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Tests

Overview of Electroencephalogram (EEG) | Neurology

What is an electroencephalogram (EEG)?

An electroencephalogram (EEG), is a test that estimates the electrical activity of the brain. It can be done to diagnose or observe diseases that affect the brain, such as epilepsy and sleep disorders. Your doctor will inform you if you need an EEG. The loads are stretched and appear on the computer screen as a graph or a recording on paper. Then your healthcare provider will explain the reading to you.

During an electroencephalogram (EEG), your healthcare provider will usually estimate the activity of 100 pages or computer screens. He or she pays special attention to the primary waveform but also examines responses to stimuli such as brief bursts of energy and flashing lights.

Purpose of electroencephalogram

The electroencephalogram (EEG) is used to identify problems associated with certain brain disorders in the electrical activity of the brain. Measurements given by EEG are used to confirm or rule out various conditions:

  • Seizure disorders (such as epilepsy)
  • Head injury
  • Encephalitis (inflammation of the brain)
  • Brain tumor
  • Encephalopathy (a disease that causes brain dysfunction)
  • Memory problems
  • Sleep disorders
  • Stroke
  • Dementia

When someone is in a coma, an EEG can be done to determine the level of brain activity. This test can also be used to monitor activity during brain surgery.

Where is electroencephalogram (EEG) tests done?

The EEG is usually performed in the hospital at the outpatient clinic. People with epilepsy have told us that it would be helpful for them to go on a date with someone. Some people are very tired of this process and are less likely to have seizures during the test. It may help to plan how you will get home after your appointment.

You may be asked to bring some simple portable recording equipment with you. You will be shown how to operate it.

Risk factors

An electroencephalogram has been done for many years and is considered a safe procedure. The test does not cause any discomfort. Electrodes record activity. They do not produce any sensation. Also, there is no risk of electric shock.

Certain factors or conditions can interfere with the reading of the EEG test. Besides these:

  • Low blood sugar (hypoglycemia) created by fasting
  • Body or eye movement through the tests (but this will rarely, if ever, significantly prevent the interpretation of the test)
  • Lights, especially bright or flashing ones
  • Certain drugs, such as sedatives
  • Drinks such as coffee, cola, and tea (these beverages may occasionally alter EEG results, which does not significantly interfere with test interpretation)
  • Oily hair or the behavior of hair spray

Procedure

Preparing for electroencephalogram

The patient is told when the electroencephalogram is scheduled.

  • If the patient is taking restrictive medications routinely to prevent seizures, antidepressants, or stimulants, they may be asked to stop taking these medications 1 to 2 days before the test.
  • The patient is told not to ingest caffeine before the test.
  • The patient should not use hair products (hairspray or gel) on the day of the test.
  • It is prudent to take the patient to the EEG site, especially if he or she wants to refrain from taking overdose medications.
  • If the patient has a sleep EEG, they may be asked to stay awake the night before the test.

During electroencephalogram

During an electroencephalogram, 20 electrodes are placed on your scalp while you lie on the exam table or in bed. Open your eyes first, then close them and relax. You may be asked to inhale deeply and quickly or to stare at a flashing light; both activities cause changes in brain wave patterns. If you are prone to epilepsy, you will rarely experience one during the test. If you are being evaluated for a sleep disorder, you may have a continuous EEG done at night while you sleep. This recording, which assesses other bodily functions such as breathing and pulse during sleep, is called polysomnography.

After electroencephalogram

Once the test is complete, the electrodes are removed and you are allowed to stand up. The results must be analyzed at a later stage by a neurologist (a doctor who specializes in brain disorders).

Generally, if there are no abnormalities in the electrical activity of the brain, the pattern of “peaks and valleys” traced by the electroencephalogram should be fairly regular. If excited, the pattern will show considerable variation and any deviation from the regular pattern may indicate abnormalities.

Results

Once the electroencephalogram results have been analyzed, they are sent to your doctor, who will accompany you. The EEG looks like a series of wavy lines. The lines will look different depending on whether you are awake or asleep during the test, but each state will have a general pattern of brain activity. If the regular brain wave pattern is disturbed, it could be a type of epilepsy or another brain disorder.

Having an abnormal EEG does not mean you have epilepsy. The test records what is happening in your brain at that moment. Your doctor will do other tests to confirm the diagnosis.

Complications

Complications of electroencephalogram (EEG) include:

  • You move too much.
  • You take certain medicines. This involves medicines used to treat seizures (antiepileptic medicines), sedatives, tranquilizers, and barbiturates.
  • You took coffee, soda, or tea, or you ate extra foods that have caffeine before the test.
  • You are careless from severe drug poisoning or very low body temperature (hypothermia).
  • Your hair is dirty, oily, or treated with hair spray or other hair products. This can create a problem with how the electrodes are placed.
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Tests

Know the Procedure of Angiography | Neurology

What is angiography?

Angiography is an X-ray procedure in which dye is added into the chambers of your heart or into the arteries that lead to your heart (coronary arteries). Then, doctors can measure blood flow and blood pressure in the chambers of the heart and see if the coronary arteries are blocked.

When imaging is taken, an iodine-based contrast medium usually enters the system. The medium highlights the movement of blood through the vessels.

Purpose of angiography

X-ray angiography is performed to specifically diagnose and diagnose vascular diseases of the body, including the brain and heart. Traditionally, angiography has been used to diagnose pathology in these vessels, such as blockage caused by plaque buildup.

However, in current decades, radiologists, cardiologists, and vascular surgeons have practiced X-ray angiography to guide minimally invasive surgery of the blood vessels and arteries of the heart. In recent years, diagnostic vascular imaging has often been performed using MRI, CT, and/or ultrasound and has become specialized for the treatment of X-ray angiography.

Types of angiography

There are several types of angiography used to diagnose a variety of problems:

  • Computed tomography angiography (CTA) uses X-rays, software, and hardware to produce horizontal or axial images or fragments of blood vessels for diagnosis.
  • Coronary angiography is a diagnostic image that uses color and special X-rays to show the inside of the coronary (heart) arteries. These images are used to identify chest pain and arterial narrowing that can lead to future heart attacks.
  • Digital subtraction angiography (DSA): Presents a picture of the blood vessels in the brain to know a problem with blood flow. In this procedure, a catheter (small, thin tube) is injected into an artery in the leg and sent to the blood vessels in the brain. Contrast dye is injected through the catheter, and X-ray images are obtained from the blood vessels.
  • Magnetic resonance angiography (MRA) uses magnetic resonance imaging (MRI) and contrast dye to reflect blood vessels. Doctors often use MRA to examine the heart and other soft tissues and assess blood flow.
  • Pulmonary angiography: An X-ray image of blood vessels used to diagnose various conditions, such as aneurysm, stenosis (narrowing of the blood vessels), or obstruction. The dye (contrast) is injected through a thin, flexible tube that is placed into the artery. This dye makes the blood vessels visible on X-rays.
  • Renal angiography: It is an X-ray image of the renal artery, which is generally used to evaluate the occlusion of the renal artery in patients with drug-resistant hypertension.
  • Radionuclide angiography (RNA) is a type of nuclear medicine procedure. A small amount of a radioactive substance called a radionuclide (radiopharmaceutical or radioactive tracer) is used to help in the examination of the studied tissue. Specifically, relaxation assesses the chambers of the heart on the movement of RNA.

Risk factors

Risk factors for angiography include:

All medical procedures have certain risks. The risks of angiograms are minimal. Accidents include injury to the catheter insertion site, internal bleeding, hematoma or arterial damage, and a small risk of stroke. An allergic reaction to the contrast dye can cause a rash, swelling, trouble breathing, or heart problems. This test should not be given to pregnant or bleeding women.

Every effort is made to ensure that these losses are minimal. Our nurse practitioners and interventional neuroradiologists will discuss your specific risks with you before angiography.

Procedure of angiography

Preparation for angiography

  • You are usually hospitalized as a day patient for this procedure
  • Bring your referral letter or application form and all X-rays taken during the last 2 years
  • Leave the X-rays with the radiology staff because the doctor will need to see them. The radiology staff will inform you when they are ready to be picked up.
  • Wear comfortable, loose clothing
  • Leave all jewelry and valuables at home
  • You may be requested not to eat for 4 hours before the angiogram
  • You will be allowed to drink clear liquids such as black tea, coffee, clear soup, or water for four hours before your angiogram. Having fluids is very important for the kidneys.

Once the person checks in, a nurse takes them to a private room where they can put on a hospital gown.

The nurse then inserts an intravenous line into a small vein in the person’s hand or wrist. They also monitor a person’s vitals, including their weight, body temperature, heart rate, and blood pressure.

During angiography

Before the angiography, a doctor will prescribe a mild sedative to help the person relax. It does not induce unconsciousness.

Then the doctor will disinfect and numb the area of the body where the catheter will be inserted. They made small incisions in the skin and inserted a catheter into the artery.

Once the catheter is inside the artery, the doctor will correctly guide them to the blood vessel they want to measure. They inject a contrast medium through a catheter and take X-ray images of the blood vessels. The person may feel a slight burning sensation when the doctor injects the contrast medium.

After angiography

You will be observed for 4 to 6 hours. During that time, the radiology nurse will discuss the instructions with you at home. A written form of these instructions will be provided to you. Follow these at home.

The radiologist will evaluate you before you are discharged. Then your doctor will discuss the test results with you.

If you have diabetes, do not take Glucophage (metformin hydrochloride) for 48 hours after the test to reduce the risk of kidney problems.

Side effects

After angiography, many people have:

  • Bruising
  • Soreness
  • A very small bump or group of blood near wherever the cut was made

These problems should get better in a few days or weeks, and you generally don’t need to worry.

You can take pain relievers like paracetamol for any discomfort if you need it.

Complications

Minor problems with the angiography procedure:

  • Excessive bleeding at the incision site
  • Infection at the incision site, which may need treatment with antibiotics
  • Mild to a moderate allergic reaction to contrast medium; This can usually be controlled through the use of allergy medications.

More serious complications can include:

  • Blood clots 
  • Kidney damage
  • Stroke
  • Blood vessel damage
  • A serious, life-threatening allergic effect (anaphylaxis) to the contrast dye

9 signs you should go see the doctor

  • Signs of infection such as fever or chills
  • Redness, swelling, growing pain, unnecessary bleeding, or any discharge from the site
  • Extreme sweating, nausea, or vomiting
  • Extreme pain
  • Extreme chest pain
  • Leg or arm feels cold, turns white or blue, or grows numb or tingly
  • Trouble breathing
  • Problems speaking or seeing
  • Weakness in the face
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Disease

Symptoms and Causes of Ventricular Fibrillation | Cardiology

What is Ventricular fibrillation?

Ventricular fibrillation is a serious heart condition that causes abnormal heart rhythms. It can be fatal. For many people with this disorder, irregular heart rhythms are the first and only sign of coronary artery disease.

Ventricular fibrillation (VFib) can be confused with atrial fibrillation (AFib). Both involve irregular heart rhythms but affect different parts of the heart.

Atrial fibrillation can also indicate a serious heart condition, but it is usually a symptom of a chronic problem, not a life-threatening feature in and of itself.

Alternative names

VF; Fibrillation – ventricular; Arrhythmia – VF; Abnormal heart rhythm – VF; Cardiac arrest – VF; Defibrillator – VF; Cardioversion – VF; Defibrillate – VF.

Causes of ventricular fibrillation

Ventricular fibrillation can have several root causes, including:

  • Insufficient blood flow to the heart muscle
  • Damage to the heart muscle (from a heart attack, for sample)
  • Cardiomyopathy
  • Problems with the aorta
  • Drug toxicity
  • Sepsis (severe body infection)

Symptoms of ventricular fibrillation

When VF occurs, the two chambers at the bottom of your heart cannot pump with enough force to move blood through your body. These lower chambers are called ventricles. This causes your blood pressure to drop quickly and prevents blood from circulating through your body. As a result, the blood cannot reach your vital organs.

Fainting or loss of consciousness are the most common symptoms of VF; early symptoms include:

  • Chest pain
  • Dizziness
  • Nausea
  • Fast, fluttering heartbeat
  • Difficulty breathing

These first symptoms may occur an hour or less before fainting or unconsciousness occurs.

Risk factors for ventricular fibrillation

The most common risk factors are:

  • A weakened heart muscle (cardiomyopathy)
  • A previous or acute heart attack
  • Genetic diseases such as extensive or short QT syndrome, Brugada disease, or hypertrophic cardiomyopathy
  • Certain medications that affect heart function
  • Electrolyte abnormalities

Diagnosis of ventricular fibrillation

To diagnose V-fib, your healthcare provider will consider:

  • Your vital marks, such as blood pressure and pulse
  • Heart function tests, such as an EKG
  • Your medical and general health history
  • An explanation of your symptoms that you, a loved one, or a bystander provide
  • A physical exam

Treatment for ventricular fibrillation

  • Cardiopulmonary resuscitation
  • Prevent new episodes

Ventricular fibrillation should be treated as an extreme emergency. Cardiopulmonary resuscitation (CPR) should be started as quickly as possible. It should be followed by defibrillation (an electric shock to the chest), as soon as the defibrillator is available. Then, medicines used to treat abnormal heart rhythms may be given to help maintain a normal heart rhythm.

When ventricular fibrillation happens within hours after a heart attack in people who are not in shock and do not have heart disappointment, immediate cardioversion restores normal rhythm in 95% of people and the prognosis is good. Shock and heart failure propose severe damage to the ventricles. If the ventricles are severely damaged, even direct cardioversion has only a 30% success rate, and 70% of people who are resuscitated die without regaining normal function.

People who are successfully resuscitated from ventricular fibrillation and survive are at high risk for another episode. If ventricular fibrillation is caused by a rescindable disorder, that disorder is treated. Otherwise, most people have an implantable cardioverter-defibrillator (ICD) surgically implanted to correct the problem if it recurs. ICDs continuously monitor the heart rate and rhythm, automatically detect ventricular fibrillation, and deliver a shock to convert the arrhythmia to a normal rhythm. These people are also often given medications to prevent recurrences.

Prevention

If you have a first-degree relative (parent, brother, or child) with an inherited heart condition (congenital heart disease), talk to your doctor about genetic screening. Early identification of an inherited heart problem can guide preventive care and reduce the risk of complications.

Complications

People who have survived VF may be in a coma or have long-term damage to the brain or other organs.

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Disease

Overview of Broken Heart Syndrome | Cardiology

What is broken heart syndrome?

A broken heart syndrome is a group of symptoms similar to those of a heart attack, which occur in response to physical or emotional stress. Most people with stress cardiomyopathy believe they are having a heart attack because symptoms, such as shortness of breath and chest pain, are similar in both conditions. However, people with broken heart syndrome do not have blocked coronary arteries, and they usually recover quickly and completely.

Broken heart syndrome is also called Takotusubo cardiomyopathy and stress-induced cardiomyopathy, which means that stress has caused dysfunction or failure of the heart muscle.

How common is broken heart syndrome?

According to the National Heart, Lung, and Blood Institute, an estimated 1.2 million people in the United States in 2007 would suffer a myocardial infarction (an interruption of the blood supply to the heart). About 1 percent of this approximation, or 12,000 people, would have experienced stress cardiomyopathy.

Symptoms of broken heart syndrome

The most mutual signs and symptoms of broken heart syndrome are angina (chest pain) and shortness of breath. You can experience these things even if you don’t have a history of heart disease.

Arrhythmias (irregular heartbeats) or cardiogenic shock can also occur with stress cardiomyopathy. Cardiogenic shock is a condition in which a suddenly weakened heart cannot pump enough blood to meet the body’s needs, and it can be fatal if not treated right away. (When individuals die from heart attacks, cardiogenic shock is the most common cause of death).

Causes of broken heart syndrome

It is believed that when you have broken heart syndrome, your body releases stress hormones that temporarily slow down the heart’s ability to pump as well as it should, and a part of your heart called the left ventricle provisionally weakens and stops pumping well. Experts also believe that the coronary arteries, which supply oxygen to the heart muscle, spasm. This can cause chest pain. A momentary “freeze” or “light-headed” of your heart can lead to circulation problems.

If stress cardiomyopathy is not treated, it can be as fatal as a heart attack.

Risk factors for broken heart syndrome

There are several known risk factors for broken heart syndrome, including:

  • The condition affects women much more often than men.
  • It seems that most people with stress cardiomyopathy are over the age of 50.
  • History of neurological disease. People who have neurological disorders, such as a head injury or a seizure disorder (epilepsy), are at increased risk for cardiomyopathy.
  • A previous or current psychiatric disorder. If you’ve had disorders, such as anxiety or depression, you’re probably at a higher risk for stress cardiomyopathy.

Diagnosis of broken heart syndrome

Because symptoms can feel like a heart attack, you should call to doctor. Even if it is not a heart attack, the initial symptoms can be life-threatening, so it is important to seek medical attention.

Treatment for broken heart syndrome

Initially, the symptoms of wrecked heart syndrome will be treated like those of a heart attack. Once a diagnosis is made, stress cardiomyopathy is treated with medications such as ACE inhibitors to lower blood pressure, beta-blockers to lower the heart rate, diuretics to decrease fluid build-up, and anti-anxiety medications to control blood pressure.

Treatments such as angioplasty, stenting, and surgery are used to treat a heart attack but are NOT used in cases of stress cardiomyopathy because they address the problem of blocked arteries, which is not found in stress cardiomyopathy.

Is broken heart syndrome dangerous?

Broken heart syndrome can be life-threatening. In some cases, it can cause plain heart muscle weakness resulting in:

  • Congestive heart failure
  • Low blood pressure
  • Shock
  • Life-threatening heart rhythm abnormalities

The good news is that this disorder can improve very quickly if patients are under the care of doctors familiar with the syndrome. Even people who are seriously ill with this condition tend to recover.

Complications

In rare cases, broken heart syndrome is fatal. However, most people who experience stress cardiomyopathy recover quickly and have no long-lasting effects.

Other complications of stress cardiomyopathy include:

  • Fluid reserve in the lungs (pulmonary edema)
  • Low blood pressure (hypotension)
  • Interruptions in your heartbeat
  • Heart failure

You may also have cardiomyopathy again if you have another stressful event. However, the chances of this happening are low.

Prevention

Broken heart syndrome sometimes reoccurs, although most people will not experience a second event. Many doctors recommend long-term treatment with beta-blockers or similar medications that block the potentially harmful effects of stress hormones on the heart. Recognizing and managing stress in your life can also help prevent broken heart syndrome, although there is currently no evidence to prove it.

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Disease

Overview of Brugada syndrome | Cardiology

What is Brugada syndrome?

Brugada syndrome is an ECG irregularity with a high incidence of sudden death in patients with structurally normal hearts.

First described in 1992 by the Brugada brothers, the disease has since seen an exponential increase in the number of reported cases. The mean age of sudden death is 41 years, and the age at diagnosis ranges from 2 days to 84 years.

High incidence in Southeast Asia, where it had previously been described as sudden unexplained nocturnal death syndrome (SUNDS).

Alternate names

  • Sudden unexplained nocturnal death syndrome
  • Bangungut
  • Pokkuri death syndrome

Causes of Brugada syndrome

Brugada syndrome can be caused by changes in one of several genes. The most frequently mutated gene in this condition is SCN5A, which is altered in about 30 percent of affected people. This gene provides instructions for creating a sodium channel, which normally carries positively charged sodium atoms (ions) to the cells of the heart muscle. This type of ion channel plays a fundamental role in maintaining the normal rhythm of the heart. Mutations in the SCN5A gene alter the structure or function of the channel, reducing the flow of sodium ions into cells. A disturbance in ion transport alters the way the heartbeats, leading to the abnormal heart rhythm characteristic of Pokkuri death syndrome.

Mutations in additional genes can also cause Brugada syndrome. Together, these other genetic changes account for less than 2 percent of cases of the condition. Some of the extra genes involved in Pokkuri death syndrome provide orders for making proteins that ensure the correct location or function of sodium channels in heart muscle cells. Proteins produced by other genes involved in the disease form or help regulate ion channels that carry calcium or potassium to or from heart muscle cells. As with sodium channels, the proper flow of ions through the calcium and potassium channels in the heart muscle helps maintain a regular heart rate. Mutations in these genes interrupt the flow of ions, affecting the normal rhythm of the heart.

In affected people without a recognized genetic mutation, the cause of Pokkuri death syndrome is often unknown. In some cases, certain medications can cause a non-genetic (acquired) form of the disorder. Medications that can induce a disturbed heart rhythm include medications used to treat some forms of arrhythmia, a condition called angina (which causes chest pain), high blood pressure, depression, and other mental illnesses. Abnormally high blood levels of calcium (hypercalcemia) or potassium (hyperkalemia), as well as remarkably low levels of potassium (hypokalemia), have also been associated with acquired Pokkuri death syndrome. In addition to causing a non-genetic form of this disorder, these factors can trigger symptoms in people with an underlying mutation in SCN5A or another gene.

Risk factors

Risk factors for Brugada syndrome include:

  • Family history of Brugada syndrome: This condition is often passed down from parent to child (hereditary). If other family members have had Brugada syndrome, you are also at higher risk for it.
  • Being a man: Men are diagnosed with Brugada syndrome more often than women.
  • Race: Brugada syndrome happens more regularly in Asians than in other races.
  • Fever: Fever does not cause Brugada syndrome, but it can irritate the heart and lead to fainting or sudden cardiac arrest in someone with Brugada syndrome, especially children.

Who is at risk for Brugada syndrome?

People who are most at risk for the disorder are those of Asian descent, particularly those of Japanese and Southeast Asian descent. It occurs 8 to 10 times more frequently in men than in women. Researchers believe that the male hormone testosterone may contribute to the difference between the genders.

Symptoms of Brugada syndrome

Symptoms that can occur with Brugada syndrome include:

  • Palpitations
  • Fainting
  • Seizures
  • Sudden death or cardiac arrest

Diagnosis of Brugada syndrome

The diagnosis of Brugada syndrome is based on a thorough clinical evaluation, a complete family and medical history that may include a family history of sudden cardiac death and a specialized test known as an electrocardiogram (ECG or EKG) that records the electrical activity of the heart. and it can reveal abnormal electrical patterns. Doctors may use specific drugs (sodium channel blockers) that cause the characteristic EKG features of Brugada syndrome.

Molecular genetics (DNA) testing is available for mutations in all genes to confirm the diagnosis, but only about 30-35% of affected persons have an identifiable gene mutation after a full genetic test. Sequence analysis of the SCN5A gene is the first step in making a molecular genetic diagnosis because mutations in this gene are the most shared cause of Brugada syndrome (nearly 25%).

Clinical tests and preparation

An electrocardiogram is recommended to determine the extent of the disease in those affected. An electrophysiological study can be used to assess the risk of sudden cardiac death.

Treatment for Brugada syndrome

The main goal of treating people with Brugada syndrome is to reduce the risk of sudden death due to severe abnormal heart rhythms, such as ventricular fibrillation or polymorphic ventricular tachycardia.  While some with this condition are at high risk for serious heart rhythm disturbances, others are at much lower risk, meaning that some may require more intensive treatment than others. In addition to treating the person with Brugada syndrome, it is often important to investigate members of their immediate family to see if they, too, have the condition.

Lifestyle

The first line of treatment, suitable for all people with Brugada syndrome regardless of their risk for arrhythmias, is lifestyle counseling. People should be warned to recognize and avoid things that can increase the risk of serious arrhythmias. These include avoiding excessive alcohol consumption, avoiding certain medications, and treating fever quickly with acetaminophen. Though the abnormal heart rhythms seen in Brugada syndrome are generally more likely to occur at rest or even during sleep, some people with Brugada syndrome knowledge arrhythmias during strenuous exercise. Therefore, some doctors may advise people with Brugada syndrome that while gentle exercise is helpful, very strenuous exercise should be avoided.

Implantable defibrillator

In people who are considered to be at increased risk for sudden cardiac death, an implantable cardioverter-defibrillator (ICD) may be recommended. These small devices implanted under the skin continuously monitor the heart rate. If the device detects a life-threatening arrhythmia, it can give the heart a small electrical shock, stunning it back to a normal rhythm.  An ICD can also function as a pacemaker, preventing abnormally slow heart rates that can also occur in people with Brugada syndrome.

Implantation of an ICD is a relatively low-risk procedure and is often performed as a day case under local anesthesia.  However, complications such as infection, bleeding, or unnecessary shock can occur and can sometimes be serious.  Because of the small risk associated with the implantation of an ICD, as well as the cost of the devices, ICDs are not recommended for all people with Brugada syndrome but are reserved for people who are considered to have an increased risk of sudden cardiac death.

Medicine

Quinidine is an antiarrhythmic drug that can reduce the chance of severe abnormal heart rhythms in some people with Brugada syndrome.  It is used most often in people with Brugada syndrome who have an ICD and have experienced several episodes of life-threatening arrhythmias, but it can also be used in people at high risk for arrhythmias but in whom an ICD is not appropriate.

Isoprenaline, a drug that has similarities to adrenaline, can be used in an emergency for people with Brugada syndrome who have frequent and repeated life-threatening arrhythmias, known as “electrical storms.” This medicine must be given as a continuous infusion into a vein and is therefore not suitable for long-term use.

Catheter ablation

Another treatment option for folks with Brugada syndrome is radiofrequency catheter ablation. In this process, wires are passed through a vein in the leg to the heart, or through a small hole under the breastbone. These leads are used to find the area of the heart responsible for initiating arrhythmias. The tip of one of these leads is used to make a series of small burns that intentionally damage the area of the abnormal heart muscle that has been causing the problem. Current recommendations suggest that this treatment should be reserved for those with Brugada syndrome who have had repeated discharges from an ICD.

Complications

Complications of Brugada syndrome require emergency medical attention. They include:

  • Sudden cardiac arrest if not treated right away, this sudden loss of heart function, breathing, and consciousness, which often occurs while you sleep, is fatal. With prompt and proper medical care, it is possible to survive.
  • If you have Brugada syndrome and pass out, seek emergency medical attention.

Prevention

If someone in your family has Brugada syndrome, genetic testing can be done to find out if you have or are at risk for the condition.

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Disease

Overview of Peripartum cardiomyopathy | Cardiology 

What is peripartum cardiomyopathy (PPCM)?

Peripartum cardiomyopathy is a rare heart failure. It occurs during pregnancy or straightaway after delivery. This condition weakens the heart muscle and causes the heart to dilate. As a result, the heart does not pump blood decently to the rest of the body.

PPCM is similar to dilated cardiomyopathy in that it affects the left ventricle of the heart. The main pumping chamber of the heart is: pumping blood from the heart and to the rest of the body. Normally, the left ventricle sends blood from the heart efficiently with enough pressure to reach all parts of the body.

In PPCM, the left ventricular chamber expands. As the ventricle becomes larger than normal, the muscle wall expands and becomes thinner. It weakens your muscles, which means you work less. This causes less blood to be expelled from the heart and less energy than usual. Inadequate blood circulation causes fluid to build up in the tissues, especially the lungs, which means that less oxygen is available to the body’s organs. This effect is called “heart failure” when it causes symptoms such as shortness of breath, cough, and extreme fatigue because the heart does not meet the body’s normal oxygen demands.

Symptoms of Peripartum cardiomyopathy

The symptoms of peripartum cardiomyopathy are similar to the symptoms of heart failure. You can experience:

  • Fast heartbeat or palpitations
  • Chest pain
  • Excessive fatigue
  • Fatigue during physical activity
  • Difficulty breathing
  • Swelling of the feet and ankles
  • Increased urination at night

Causes of Peripartum cardiomyopathy

During pregnancy, your heart sends 50 percent more blood. This is because you need to transfer oxygen and essential nutrients to your growing baby. There is no definite cause for peripartum cardiomyopathy. However, doctors believe that this condition occurs when excessive blood pumping is combined with other risk factors. This combination puts additional pressure on the heart.

Risk factors for Peripartum cardiomyopathy

A variety of risk factors increase your chances of developing this condition, including:

  • Hypertension
  • Diabetes
  • Personal history of heart disease, including myocarditis
  • Malnutrition
  • Of smoking
  • Alcoholism
  • Multiple pregnancies
  • Those over 30
  • Medications for preterm labor 

How is peripartum cardiomyopathy diagnosed?

Your doctor will review your symptoms and perform a physical exam. A device called a stethoscope helps the doctor listen for cracking sounds in the lungs and abnormal sounds in the heart. Your doctor will also monitor your blood pressure. It can be lower than normal and can drop significantly when you stand up.

Different types of imaging tests can measure your heart rate. These tests also determine the speed of blood flow. Some lung and lung damage can also be seen on these imaging tests. Exams may include:

  • X-ray of the whole chest
  • CT scan to obtain detailed images of the heart
  • Nuclear heart scan to show the heart chambers
  • Sound waves (echocardiogram) to create moving images of the heart

What are the treatment options for peripartum cardiomyopathy?

Women who develop this condition stay in the hospital until their symptoms are under control. And your doctor will recommend treatment based on the severity of your condition. Peripartum cardiomyopathy heart damage is irreversible. However, a damaged heart can still function for a long time, depending on the severity of the damage. The severity of the damage also determines whether a heart transplant is necessary.

The outlook for women with peripartum cardiomyopathy is good for those whose hearts return to normal size after delivery. It happens to 30-50 percent of women. In all cases, 4% of patients require a heart transplant and 9% die as a result of the heart transplant procedure.

In severe cases, doctors may recommend a heart transplant or a heart balloon pump. However, for most women, symptoms are controlled and reduced during treatment.

Your doctor may prescribe the following medications to control your symptoms:

  • Beta-blockers: Drugs that lower blood pressure and improve blood flow by blocking the hormone adrenaline
  • Digitalis: Medications that strengthen the heart to improve pumping and circulation
  • Diuretics: Medications that lower blood pressure by removing excess water and salt from the body

Women with this condition must also follow a low-salt diet to maintain blood pressure. They should completely avoid alcohol and tobacco products. These products can make symptoms worse.

Peripartum cardiomyopathy can affect your health for the rest of your life, even after successful treatment. Follow up with regular check-ups and take all prescribed medications.

What are the complications associated with peripartum cardiomyopathy?

Serious problems are:

  • Arrhythmia
  • Blood clots, especially in the lungs.
  • Circulatory heart failure
  • Death

Prevention

Certain lifestyle habits can lower your risk. This is especially important for new moms. Attention:

  • Exercise regularly
  • Eat a low-fat diet
  • Avoiding cigarettes
  • Avoiding alcohol

Women diagnosed with peripartum cardiomyopathy are at increased risk of developing this condition in future pregnancies. In these cases, women may consider taking birth control to prevent pregnancy.

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Disease

Treatment and Diagnosis of Sciatica | Neurology

What is sciatica?

Sciatica is an indication of pain that radiates along the path of the sciatic nerve, which branches from the lower back through the hips and glutes and down each leg. Sciatica usually affects only one side of your body.

Sciatica occurs most often when a herniated disc, a bone spur in the spine, or narrowing of the spine (spinal stenosis) compresses part of the nerve. This causes swelling, pain, and often some deadness in the affected leg.

Although the pain associated with sciatica can be severe, most cases resolve with non-surgical treatments within a few weeks. People who have severe sciatica associated with significant leg weakness or bladder or bowel changes may be candidates for surgery.

Alternate name

  • Sciatic neuritis

Symptoms of sciatica

Pain that discharges from the lower spine (lumbar) to the buttock and back of the leg is the symbol of sciatica. You may feel the discomfort almost somewhere along the nerve path, but it likely to follow a path from the lower back to the buttock and the back of the thigh and calf.

Pain can vary widely, from a mild ache to a sharp burning impression or excruciating pain. Sometimes it can feel like a shock or electric shock. It can be worse when you cough or sneeze, and sitting for a long time can make symptoms worse. Typically only one side of your body is affected.

Some people also have shudder, tingling, or muscle weakness in the affected leg or foot. You may feel pain in one part of your leg and impassiveness in another part.

Sciatica occurs when the sciatic nerve is pinched, usually by a herniated disc in the spine or by an overgrowth of bone (bone spur) in the vertebrae. More rarely, the nerve can be compacted by a tumor or damaged by a disease such as diabetes.

Causes of sciatica

Sciatica occurs when the sciatic nerve is pinched, typically by a herniated disc in the spine or by an overgrowth of bone (bone spur) in the vertebrae. More rarely, the nerve can be compacted by a tumor or damaged by a disease such as diabetes.

Risk factors

Risk factors for sciatica include:

  • Years. Age-related changes in the spine, such as herniated discs and bone spurs, are the most common causes of sciatica.
  • Obesity. By collective stress on the spine, excess body weight can add to the spinal changes that trigger sciatica.
  • Occupation. A job that requires you to turn your back, carry heavy loads, or drive a motor vehicle for long periods of time can affect sciatica, but there is no conclusive evidence for this link.
  • Sitting for a long time. People who sit for long periods or have a sedentary lifestyle are more likely to develop sciatica than active people.
  • Diabetes. This disorder, which affects the way your body uses blood sugar, raises your risk of nerve damage.

Diagnosis of sciatica

During the physical exam, your doctor can monitor your muscle strength and reflexes. For example, you may be asked to walk on your toes or heels, get up from a squat, and while lying on your back, raise your legs one at a time. The pain that results from sciatica will generally get worse during these activities.

Imaging tests

Many people have herniated discs or bone limbs that will show up on X-rays and other imaging tests, but have no signs. Therefore, doctors do not usually order these tests unless the pain is severe or does not improve within a few weeks.

  • Bone scan. An X-ray of the spine may reveal an overgrowth of bone (bone spur) that may be demanding on a nerve.
  • MRI. This way uses a powerful magnet and radio waves to produce cross-sectional images of your back. An MRI produces detailed images of bones and soft tissues, such as herniated discs. During the test, you lie on a table that is moved toward the MRI machine.
  • Computed tomography. When a CT scan is used to image the spine, you may have a contrast dye injected into your spinal canal before the x-rays are taken, a procedure called a CT myelogram. The dye then circulates around the spinal cord and spinal nerves, which appear white on examination.
  • Electromyography (EMG). This test measures the electrical impulses produced by your nerves and the responses of your muscles. This test can confirm nerve compression caused by herniated discs or narrowing of the spinal canal (spinal stenosis)

Treatment for sciatica

If your pain does not improve with self-care measures, your doctor may suggest some of the following treatments.

Medicines

The types of medications that may be prescribed for sciatica pain include:

  • Anti-inflammatory
  • Muscle relaxants
  • Narcotics
  • Tricyclic antidepressants
  • Anti-seizure drugs

Physical therapy

Once your acute pain recovers, your doctor or physical therapist can design a rehabilitation program to help avoid future injuries. This generally includes exercises to correct your posture, strengthen the muscles that support your back, and improve your flexibility.

Steroid injections

In some cases, your doctor may recommend injecting a corticosteroid medicine into the area around the affected nerve root. Corticosteroids help reduce pain by suppressing irritation around the irritated nerve. The effects typically wear off in a few months. The number of steroid injections you can receive is limited because the risk of serious side effects increases when the injections occur too often.

Surgery

This option is usually kept for when the compressed nerve causes significant faintness, loss of bowel or bladder control, or when you have pain that progressively worsens or does not improve with other therapies. Surgeons can remove the bone spur or the part of the herniated disc that is pressing on the pinched nerve.

Complications

Although most people make a full recovery from sciatica, often without treatment, sciatica can potentially cause permanent nerve damage. Seek immediate medical attention if you have:

  • Loss of sensation in the affected leg
  • Weakness in the affected leg
  • Loss of bowel or bladder function

Prevention

Sciatica cannot always be prevented, and the condition may recur. The following can play a key role in protecting your back:

  • Exercise regularly. To keep your back strong, pay special helpfulness to the core muscles – the muscles in the abdomen and lower back that are important for proper posture and alignment. Ask your doctor to commend detailed activities.
  • Maintain proper posture when sitting. Choose a seat with good lower back support, armrests, and a swivel base. Reflect placing a pillow or rolled towel on your lower back to maintain your normal curve. Keep your knees and hips level.
  • Use good body mechanics. If you are standing for long periods, rest one foot on a stool or small box from time to time. When lifting something heavy, let your lower edges do the work. Move up and down. Keep your back traditional and bend only your knees. Keep the load close to your body. Avoid lifting and turning simultaneously. Find a partner to lift if the object is heavy or uncomfortable.
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Disease

7 Types and Symptoms of Fibromyalgia | Neurology

What is fibromyalgia?

Fibromyalgia is a pain syndrome characterized by chronic pain, fatigue, and sensitivity to touch.

This syndrome is the most shared medical cause of chronic widespread pain in the United States.

This affects 2% to 4% of people, mostly women.

The definition of fibromyalgia symptoms and signs includes:

  • Chronic pain, which might be in the muscles, joints, and/or bones,
  • Fatigue,
  • Trouble sleeping, and
  • Tenderness all over the body to the light touch

People with fibromyalgia may also experience

  • Depression and/or anxiety
  • Cognitive problems, such as forgetfulness and lack of concentration (fibro fog)
  • Abdominal pain
  • Dry eyes
  • Pain in the chest wall
  • Dry mouth
  • Bladder symptoms
  • Pelvic pain
  • Heart palpitations
  • Numbness and tingling
  • Chemical sensitivities and multiple allergies, and
  • Weight gain

Exercise and getting enough sleep are very important in managing fibromyalgia. Taking medicine can help relieve pain.

The fact is, there is no test to detect fibrositis. When fibromyalgia is suspected by a healthcare professional, testing is sometimes necessary to rule out other medical conditions.

Alternate name

  • Fibromyalgia syndrome (FMS)
  • Fibrositis

7 Types of fibromyalgia

  • Hyperalgesia
  • Generalized muscle pain
  • Joint pain
  • Allodynia
  • Neuropathic pain
  • Headaches
  • Abdominal and pelvic pain

Causes of fibromyalgia

Doctors and researchers do not know what causes fibromyalgia.

Based on the latest research, the cause appears to be a multi-impact theory involving a genetic disposition (inherited characteristics) complemented by a trigger, or a set of triggers, such as infection, trauma, and stress.

Let’s take a closer look at these potential factors and several others that can influence why people develop fibrositis.

Infections

A past illness could trigger fibromyalgia or make your symptoms worse. Flu, pneumonia, gastrointestinal infections, such as those caused by the bacteria Salmonella and Shigella, and the Epstein-Barr virus, all have possible links to fibrositis.

Genes

Fibromyalgia is often hereditary. If you have a family member with this condition, you are at higher risk of developing it.

Researchers believe that certain genetic mutations may play a role. They have identified some possible genes that affect the transmission of chemical pain signals between nerve cells.

Trauma

People experiencing severe physical or emotional trauma can develop fibrositis. The condition has been linked to post-traumatic stress disorder (PTSD).

Stress

Like trauma, stress can have lasting effects on your body. Stress has been related to hormonal changes that could contribute to fibromyalgia.

Healthcare providers do not fully understand what causes the chronic and widespread nature of fibrositis pain. One theory is that the brain lowers the pain threshold. Sensations that were previously not painful become very painful over time.

Another theory is that nerves overreact to pain signals.

Risk factors for fibromyalgia

Risk factors for fibromyalgia include:

  • Your sex. Fibromyalgia is diagnosed more often in females than in males.
  • Family history. You may be more likely to develop fibromyalgia if one of your parents or siblings also has the condition.
  • Other disorders. If you have osteoarthritis, rheumatoid arthritis, or lupus, you are extra likely to develop fibromyalgia.

Symptoms of fibromyalgia

In short, everything hurts. Common symptoms include:

  • Muscle pain, burning, spasms, or tightness
  • Low pain threshold or tender points
  • Draining fatigue
  • Difficulty concentrating and remembering, called “fibro fog”
  • Insomnia or not sleeping well
  • Feeling nervous, worried, or depressed

Fibromyalgia can feel similar to osteoarthritis, bursitis, and tendonitis. But instead of hurting in one specific area, the pain and stiffness could be all over the body.

Other fibro symptoms can include:

  • Stomach pain, bloating, nausea, constipation, and diarrhea (irritable bowel syndrome)
  • Headaches
  • Dry mouth, nose, and eyes.
  • Sensitivity to cold, heat, light, or sound.
  • Urinate more frequently
  • Numbness or tingling in your face, arms, hands, legs, or feet

Diagnosis of fibromyalgia

A doctor will suspect fibromyalgia founded on your symptoms. Doctors may require you to have pressure sensitivity or tender points in a specific number of certain points before saying you have fibrositis but are not required to make the diagnosis. A physical exam can be helpful in detecting tenderness and ruling out other causes of muscle pain. There are no diagnostic tests (such as X-rays or blood tests) for this problem. However, you may need tests to rule out another health problem that could be mistaken for fibromyalgia.

Because widespread body pain is the main feature of fibromyalgia, healthcare providers will ask you to describe your pain. This can help differentiate fibrositis from other conditions with similar symptoms. Other circumstances such as hypothyroidism (underactive thyroid gland) and polymyalgia rheumatic occasionally mimic fibromyalgia. Blood tests can show if you have any of these problems. Fibrositis is sometimes confused with rheumatoid arthritis or lupus. But again, there is a difference in symptoms, physical findings, and blood tests that will help your healthcare provider detect these health problems. Unlike fibrositis, these rheumatic diseases cause inflammation in the joints and tissues.

Treatment options for fibromyalgia

Medical care is needed because fibromyalgia can be difficult to manage. As it is a syndrome, each patient will knowledge a dissimilar set of symptoms, and an individual treatment plan will be necessary.

Treatment may include some or all of the following:

  • An active exercise program
  • Acupuncture
  • Psychotherapy
  • Behavior modification therapy
  • Chiropractic care
  • Massage
  • Physical therapy
  • Low-dose antidepressants, although not a first-line treatment

People with fibrositis should work with their doctor to come up with a treatment plan that will provide the best results.

Drugs

Medications may be recommended to treat certain symptoms.

These may include over-the-counter (OTC) pain relievers. Though, the European League Against Rheumatism (EULAR) issued a recommendation against the use of non-steroidal anti-inflammatory drugs (NSAIDs) to treat fibrositis in its efficient 2016 guidelines.

Antidepressants, such as duloxetine or Cymbalta and milnacipran or Savella, can help reduce pain. Anti-seizure medications may be prescribed, such as gabapentin, also known as Neurontin, and pregabalin, or Lyrica.

However, a review has suggested that patients often stop using these medications because they are not effective in relieving pain or because of their adverse effects.

Patients should inform the physician of any other medications they are taking to avoid side effects and interactions with other medications.

Exercise

A combination of aerobic exercise and resistance training, or strength training, has been linked to a reduction in pain, tenderness, stiffness, and sleep disturbances in some patients.

If exercise helps symptoms, it’s important to stay consistent to see progress. Exercising with a partner or a personal trainer can help keep your exercise program active.

Acupuncture

Some patients have experienced developments in their quality of life after starting acupuncture therapy for fibrositis. The number of sessions required will be contingent on the symptoms and their severity.

One study found that 1 in 5 people with fibromyalgia uses acupuncture within 2 years of diagnosis. The researchers concluded that it can improve pain and stiffness. However, they ask for more studies.

Behavior modification therapy

Behavior modification therapy is a form of cognitive-behavioral therapy (CBT) that aims to reduce negative behaviors that increase stress or pain and improve positive, mindful behaviors. It includes learning new coping skills and relaxation exercises.

Prevention

If the medications your healthcare provider prescribes do not completely relieve your fibrositis symptoms, you can seek alternatives. Many natural treatments focus on reducing stress and reducing pain. You can use them alone or in conjunction with traditional medical treatments.

Natural remedies for fibromyalgia include:

  • Physical therapy
  • Acupuncture
  • 5-hydroxytryptophan (5-HTP)
  • Meditation
  • Yoga, use with caution if there is hypermobility
  • Exercise
  • Massage therapy
  • A healthy and balanced diet

Therapy can potentially reduce the stress that triggers symptoms of fibromyalgia and depression.

Group therapy may be the cheapest option and will give you the opportunity to meet other people who are experiencing the same problems.

Cognitive-behavioral therapy (CBT) is another option that can help you manage stressful situations. Individual therapy is also available if you prefer personalized help.

It is important to note that most alternative fibromyalgia treatments have not been thoroughly studied or proven effective.

Ask your healthcare provider about the benefits and risks before trying any of these treatments.

Complications

Fibromyalgia can cause pain, incapacity, and a lower quality of life. American adults with fibrositis can have complications such as:

  • More hospitalizations. If you have fibromyalgia, you are double as likely to be hospitalized as someone without fibrositis.
  • Lower quality of life. Females with fibromyalgia may knowledge a lower quality of life.
  • Higher rates of major depression. Adults with this disease are extra than 3 times more probable to have major depression than adults without fibrositis. Detecting and treating depression is extremely important.
  • Higher rates of death from suicide and injuries. Rates of death from suicide and injury are higher among fibromyalgia patients, but overall mortality among adults with fibrositis is similar to that of the general population.
  • Higher rates of other rheumatic conditions. Fibromyalgia often coexists with other types of arthritis such as osteoarthritis, rheumatoid arthritis, systemic lupus erythematosus, and ankylosing spondylitis.
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Disease

Pulmonary Atresia Treatments and Preventive Options | Cardiology

What is pulmonary atresia?

Pulmonary atresia is a congenital heart defect that is usually diagnosed immediately after birth. In pulmonary atresia, the valve that allows blood from the heart to go to your or your baby’s lungs (pulmonary valve) does not form properly. Instead of opening and closing so blood can travel from the heart to the lungs, a solid sheet of tissue is formed. Therefore, the blood does not travel through its normal way to take oxygen from the lungs. Instead, some blood travels to the lungs and lungs through the heart and other natural components in your arteries.

These passages are necessary as your baby develops in the womb, and they usually close immediately after birth. Children with pulmonary atresia often have a blue cast on their skin because they are not getting enough oxygen. Pulmonary atresia is a life-threatening condition. Procedures to correct your baby’s heart condition and medications to help your baby’s heart work more efficiently are the first steps in treating pulmonary atresia.

Symptoms of pulmonary atresia

Symptoms of pulmonary atresia usually appear in the first hours or days of the baby’s life and may include:

  • Fast breathing
  • Blue on the skin, especially on the lips, fingers, and toes.
  • Cold, pale, or burning skin
  • Respiratory problems
  • Fatigue or tiredness
  • Irritated
  • Bad nutrition

Causes of pulmonary atresia

There is no cause for pulmonary atresia. To understand the problems caused by pulmonary atresia, it helps to know how the heart works.

How does the heart work

The heart is divided into four hollow chambers, two on the right and two on the left. In performing its basic function, pumping blood throughout the body, the heart uses its left and right sides for different tasks. The right side of the heart carries blood to the lungs through vessels called pulmonary arteries. In the lungs, the blood carries oxygen and returns to the left side of the heart through the pulmonary veins. Your baby sends blood through the aorta to the left side of the heart to supply oxygen to the body and the rest of the body.

Blood moves in one direction through your baby’s heart through valves that open and close when the heartbeats. The valve that allows your baby to draw oxygen from the heart and lungs to the lungs is called the pulmonary valve. In pulmonary atresia, the pulmonary valve does not develop properly, preventing it from opening. Blood does not flow from the right ventricle to the lungs.

Before birth, a malformed valve is not fatal because the placenta provides oxygen to your baby instead of the lungs. Blood entering the right side of your baby’s heart passes through the hole (foramen ovale) between the upper chambers of your baby’s heart, whereby oxygen-rich blood is pumped through the aorta to the rest of your baby’s body. After birth, your baby’s lungs need to supply her body with oxygen. In pulmonary atresia, without a functioning pulmonary valve, the blood must find another way to get to your baby’s lungs.

Foremen’s ovary usually closes immediately after birth, but remains open in pulmonary atresia. Newborns also have a temporary connection between the aorta and the pulmonary artery (ductus arteriosus). This route allows oxygen to travel through the lungs to the lungs, where your baby can take in oxygen to supply the body. The ductus arteriosus usually closes immediately after birth, but it can be left open with medication.

In some cases, there may be a second hole in the tissue that separates the main pumping chambers of your baby’s heart, called a ventricular septal defect (VSD). VSD allows blood to pass through the right ventricle to the left ventricle. Children with pulmonary atresia and VSD often have additional abnormalities in the lungs and the arteries that carry blood to the lungs. Without VSD, the right ventricle receives less blood flow before birth and often does not fully develop. This is a condition known as pulmonary atresia with the intact ventricular septum (PA / IVS).

Risk factors for pulmonary atresia

In most cases, the exact cause of a congenital heart defect such as pulmonary atresia is unknown. However, there are several factors that increase the risk of having a baby with congenital heart defects, including:

  • Parents with congenital heart disease
  • That delays the mother before conception
  • Smoking before or during pregnancy
  • A mother who does not adequately control her diabetes.
  • The use of certain types of medications during pregnancy, such as some acne medications and blood pressure medications.

Diagnosis of pulmonary atresia

Tests to diagnose pulmonary atresia may include:

  • Bone scan: X-rays show the size and shape of your baby’s internal tissues, bones, and organs. This will help your pediatrician see the extent of your baby’s pulmonary atresia.
  • Electrocardiogram (ECG): In this test, sensor pads attached to wires (electrodes) measure the electrical impulses that your child’s heart gives off. This test detects any abnormal heart rhythms (arrhythmia or dysrhythmia) and shows the tension of the heart muscle.
  • Echocardiogram: In an echocardiogram, sound waves create detailed images of your child’s heart. Your pediatrician will usually use an echocardiogram to diagnose pulmonary atresia. Before delivering your baby (fetal echocardiogram), your doctor can diagnose your baby’s pulmonary atresia using an echocardiogram of your abdomen.
  • Cardiac catheterization: In this test, your pediatrician will insert a thin, flexible tube (catheter) into the blood vessel in your baby’s groin and guide your baby’s heart using X-ray images. This test provides complete information about the structure of your heart. baby and his heart, pulmonary artery, and aortic blood pressure and oxygen levels. Your pediatrician may inject a special dye into the catheter so that the arteries are visible under the X-ray.

Treatment of pulmonary atresia

Your child will need emergency medical help once symptoms of pulmonary atresia develop. The choice of surgeries or procedures depends on the severity of your child’s condition.

Drugs

An intravenous drug called prostaglandin prevents the closure of the natural connection (ductus arteriosus) between the pulmonary artery and the aorta. This is not a permanent solution, but it will give your doctor more time to decide what type of surgery or procedure is best for your child.

Catheterization procedures

In some cases, it can be repaired through a long, thin tube (catheter) that is inserted into a large vein in your baby’s groin and connected to the heart. These policies include:

  • Balloon atrial septostomy: A balloon can be used to expand the natural hole (foramen ovale) in the wall between the two upper chambers of the heart. This hole usually closes immediately after birth. Expanding this increases the amount of blood available to travel to the blood vessels.
  • Stent placement: Your pediatrician can place a stent tube at the natural connection between the aorta and the pulmonary artery (ductus arteriosus). This opening usually closes immediately after birth. Keeping it open allows blood to travel to the lungs.

Heart surgery

The surgical repair needed depends on the size of your child’s right ventricle and pulmonary artery. Babies with pulmonary atresia often require heart operations over time. Some examples:

  • Maneuvers: Creating a shunt (shunt) of the main blood vessels leading from the heart (aorta) to the pulmonary arteries allows adequate blood flow to the lungs. However, babies usually get over this shunt within a few months.
  • Glenn’s approach: In this surgery, one of the large veins that normally returns blood to the heart is connected directly to the pulmonary artery. Another large vein continues to supply blood to the right side of the heart, which sends it through a surgically repaired pulmonary valve. This helps the right ventricle grow.
  • Fonton approach: If the right ventricle is too small to be useful, surgeons can create a pathway using the Fontaine procedure, which, if not most, allows blood to flow directly into the pulmonary artery.
  • Heart transplant: In some cases, the heart is too damaged to repair and a heart transplant may be necessary.

Future treatments

Pulmonary atresia is likely to be repaired one day with fetal surgery during pregnancy. A recent small study has shown good results, but more research is needed.

Lifestyle and home remedies

Here are some tips for caring for your child after you return home from the hospital:

  • Make regular subsequent appointments with your pediatrician: Your baby will need regular appointments with a doctor trained in congenital heart conditions. These appointments should continue even as your child grows older. Ask your pediatrician how often to see your child.
  • Help your child stay active: Encourage regular play and activities that your child can tolerate, with plenty of opportunities for rest and sleep. Being active can help keep your child heart-healthy. As your child grows, talk with a cardiologist about what activities are best for him.
  • Keep up with routine well-child care: Standard vaccinations are encouraged for children with congenital heart defects, as well as vaccines against the flu, pneumonia, and respiratory syncytial virus infections.
  • Preventive antibiotics: Your child’s cardiologist may recommend that your child take preventive antibiotics before certain dental and other procedures to prevent bacteria from entering the bloodstream and infecting the inner lining of the heart (infective endocarditis). Practicing good oral hygiene — brushing and flossing teeth, getting regular dental checkups — is another good way of preventing infection.

Complications

  • Without treatment, pulmonary atresia is almost always fatal. Even after surgical repairs, you should carefully monitor your child’s health for any changes that may indicate a problem.
  • People with structural heart problems such as pulmonary atresia have a higher risk of developing endocarditis than the general population. Infective endocarditis is an inflammation of the valves and lining of the heart caused by a bacterial infection.
  • Even after treatment, people born with pulmonary atresia appear to be at higher risk for certain heart problems, such as abnormal heart rhythms (arrhythmia) and heart failure in adults.

Prevention of pulmonary atresia

Since the exact cause of pulmonary atresia is unknown, it may not be possible to prevent it. However, there are some things you can do to lower your baby’s risk of congenital heart defects, including:

  • Manage chronic medical conditions: If you have diabetes, controlling your blood sugar can lower your risk of heart disease. If you have other chronic conditions, such as high blood pressure or epilepsy, and you need medications, talk with your doctor about the risks and benefits of these medications.
  • Do not smoke: Smoking cigarettes during pregnancy increases the risk of heart defects in your baby.
  • Maintain a healthy weight: If you’re obese, you have a higher risk of having a baby with a congenital heart defect.
  • Get a German measles (rubella) vaccine: If you develop German measles during pregnancy, it may affect your baby’s heart development. Being vaccinated before you try to conceive likely eliminates this risk. However, no link has been shown between rubella and the development of pulmonary atresia.
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Disease

Diagnosis and Causes of Dravet Syndrome | Neurology

What is dravet syndrome?

Dravet syndrome is rare drug-resistant epilepsy that begins in the first year of life in an otherwise healthy baby. It is for life. It usually offerings with a prolonged seizure with a fever that affects one side of the body.

  • Most cases are due to severe mutations in the SCN1A gene.
  • Most children progress varying degrees of developmental disability.
  • Treatment involves finding the best combination of medications to treat seizures and prevent seizure emergencies. Diet therapy and vagus nerve stimulation can also be helpful.
  • The FDA approved two new drugs specifically for dravet syndrome. These include Epidiolex (cannabadiol, CBD) oral explanation approved in June 2018 and Stiripentol approved in August 2018. Fenfluramine (Fintepla) was approved in June 2020.
  • A multidisciplinary team and a primary developmental calculation are needed to address the many ways that Dravet syndrome can affect a child and their family.

Alternate name

Dravet syndrome, before known as severe myoclonic epilepsy of infancy (SMEI)

Types of dravet syndrome

Dravet syndrome is an unadorned form of epilepsy characterized by prolonged seizures that usually appear in the first year of life. As the disease develops, different types of seizures start to occur.

Seizures are classified into three main types depending on the part of the brain they affect: focal onset or partial seizures, widespread seizures, and unknown onset seizures. Focal start seizures start on one side of the brain while widespread seizures affect both sides of the brain simultaneously. In unknown onset seizures, the location in the brain where the seizure starts are not known.

Seizures also may be secret based on their cause such as, for instance, febrile seizures, or seizures caused by high temperature, as well as symptoms they cause, myoclonic seizures, clonic seizures, tonic seizures, tonic-clonic seizures, absence seizures, atonic seizures, principal impaired-awareness seizures.

Febrile seizures

Febrile seizures usually are generalized seizures. They are a convulsion activated by a fever that often accompanies childhood illnesses. In children with dravet syndrome, they typically occur within the first year after birth and often are much more severe than those seen in children with other diseases.

Most febrile seizures are brief and do not typically cause long-term health problems. However, repetitive prolonged febrile seizures increase children’s risk of emerging epilepsy and are the first sign that a child may have dravet syndrome.

Myoclonic seizures

Myoclonic seizures are another type of generalized seizure. This type of seizure causes children’s muscles to rapidly agree and relax, resulting in jerky movements. In children with dravet syndrome and other epilepsy disorders, these jerking movements happen on both sides of the body. These seizures usually do not affect the child’s consciousness, leave-taking them aware and able to think during the episode. When these seizures are current in children with dravet syndrome they usually occur by the age of two.

Clonic seizures

Clonic seizures can be either focal onset or widespread onset in origin. This type of seizure causes jerky movements in which the person’s muscles stiffen and relax. It often is difficult to differentiate a myoclonic seizure from a clonic seizure, but clonic seizures usually involve a more rhythmic jerky movement. This type of seizure most commonly occurs in babies and may last from a few seconds to one minute. These seizures cannot be stationary by restraining the child.

Tonic seizures

Tonic seizures can be also focal onset or generalized onset in origin. This type of seizure causes a person’s body to develop unexpectedly stiff. They usually happen while the person is sleeping and last less than 60 seconds. A person experiencing a tonic seizure may be completely aware of the episode or their awareness may be slightly impaired. They may feel tired or disordered after the event and have a headache. Tonic seizures are very rare in dravet syndrome.

Tonic-clonic seizures

Tonic-clonic seizures usually are widespread onset, but also can be focal onset. This type of seizure involves a combination of symptoms from tonic and clonic seizures. The tonic stage of the convulsion begins first with the person’s body abruptly becoming stiff, followed by the clonic phase in which the person’s body jerks rhythmically. These seizures typically last one to three minutes. Toward the end of the seizure, the jerky actions slow to a stop and the person’s body relaxes. During this time, the person may lose the switch of the bladder or bowels. A tonic-clonic seizure permanent for more than five minutes requires immediate medical help.

Absence seizures

Absence seizures are a type of generalized onset seizure. This kind of seizure causes children to have lapses of consciousness where they have no recollection of the incident afterward. These seizures are abrupt and previous only a few seconds. They are considered by non-motor symptoms, although brief twitches may be present. A common symptom of this type of seizure is blank staring that is often mistaken for daydreaming. Once diagnosed, absence seizures can be controlled with anti-seizure medications. It is possible for children to enlarge absence seizures and this commonly happens in their teenage years.

Children with dravet syndrome also can have an additional type of absence seizure known as atypical absenteeism seizure. These seizures also are a kind of generalized onset seizures and usually happen after age two. Unlike regular absence seizures, children experiencing atypical absence seizures may be able to respond to external stimuli.

Atonic seizures

Atonic seizures can be focal onset or generalized onset. These seizures are also known as falling attacks because there is a loss of muscle control that results in flabby muscles. They usually last less than 15 seconds. They do not cause direct damage but can cause indirect injuries from falls. Head protection is often recommended for children with these types of seizures.

Focal seizures of altered consciousness

Focal deficient consciousness seizures usually occur after the age of two years and generally lasts one to two minutes. They originate on one side of the brain. The patient loses consciousness, so the main symptoms are lack of response and confusion. In addition, children can have automaticities such as lip-smacking or clumsiness.

Status epilepticus

Status epilepticus can occur in children with dravet syndrome. This is when a seizure lasts more than five minutes or when several seizures occur together with no recovery time in between. There are two types of rank epilepticus: convulsive and non-convulsive. Convulsive status epilepticus usually results from a prolonged tonic-clonic seizure. This type needs emergency medical treatment because it is life-threatening. Non-convulsive status epilepticus is usually caused by the prolonged absence or by seizures of focal altered consciousness. These seizures are harder to recognize because the symptoms are subtler.

What causes dravet syndrome?

Dravet syndrome is a genetic condition. In 80 percent of Dravet patients, the disease is caused by changes in the SCN1A gene. The remaining 20% of cases are believed to be the result of mutations in other genes, some of which have yet to be identified.

Most disease-causing mutations occur de novo, which means they are new and are not passed down from parents. But up to 10% of the time, mutations that cause dravet syndrome are inborn from parents in an autosomal dominant manner, meaning that just one defective copy of the disease-causing gene is enough for the condition to develop.

Dravet syndrome risk factors

As children with dravet syndrome grow older, their decline in cognitive function stabilizes. The degree of intellectual disability varies widely from mild to profound, however, most adolescents and adults with dravet syndrome are dependent on caregivers. Gait abnormalities appear to worsen during adolescence. Seizures tend to decrease in amount and duration with age. People with dravet syndrome are at higher risk than the general population for a sudden and unexpected death, but that risk remains low.

Dravet syndrome symptoms

The following list includes the most mutual signs and symptoms in persons with dravet syndrome. These characteristics can vary from one person to another. Some persons may have more symptoms than others, and symptoms can range from slight to severe. This list does not include all the symptoms or characteristics that have been described in this condition.

Signs and symptoms include:

  • Many different types of seizures.
  • Sudden muscle jerks (myoclonus)
  • Loss of developmental skills.
  • Intellectual disability
  • Trouble walking
  • Speech disability
  • Autistic-like behavior

The first seizures appear before one year of age and are often associated with fevers. In childhood, other types of seizures develop, and the incidence of seizures increases. Loss of cognitive and developmental skills can occur along with speech problems and difficulty walking. In adulthood, the number of seizures may decrease and nocturnal seizures may occur. More serious complications include the risk of ongoing seizures (status epilepticus) and sudden unexplained death.

This table lists the symptoms that people with this disease may have. For most diseases, symptoms vary from person to person. People with the same disease may not have all of the listed symptoms. This information originates from a database called Human Phenotype Ontology (HPO). The HPO collects information around symptoms that have been labeled in medical resources. The HPO is periodically updated. Use the HPO ID to access more detailed information about a symptom.

Dravet syndrome diagnosis

Dravet syndrome is a clinical diagnosis that was recently determined to affect 1: 15,700 babies born in the US. Approximately 80% of those diagnosed with dravet syndrome have an SCN1A change (1: 20,900), but the attendance of a mutation alone is not sufficient for the diagnosis, nor does the absence of a mutation exclude the diagnosis. Dravet syndrome is at the more severe end of the spectrum of SCN1A-related disorders, but it can also be associated with other mutations.

In the 2015 study, the clinical diagnostic criteria included at least 4 of the following:

  • Normal or near-normal cognitive and motor development before the onset of seizures
  • Two or more seizures with or without fever before one year of age
  • History of seizures consisting of generalized myoclonic, hemiclonic, or tonic-clonic seizures
  • Two or more seizures lasting more than 10 minutes
  • Lack of response to first-line antiepileptic drug therapy with continuous seizures after 2 years of age

Other hallmarks of the syndrome include seizures associated with vaccinations, hot baths, or warm temperatures; developmental slowdown, stagnation or regression after the first year of life; behavior problems; and speech delay.

Genetic test

Because many of these criteria are not apparent in the first year of life, and babies with dravet syndrome initially experience typical development, the study determined that genetic testing through an epilepsy panel should be considered in patients with either of the following:

  • 2 or more prolonged seizures per year of age
  • 1 prolonged seizure and any hemiclonic seizure (sustained rhythmic jerking of one side of the body) at 1 year of age
  • 2 seizures of any duration that appear to affect alternate sides of the body
  • History of seizures before 18 months of age and subsequent onset of myoclonic and/or absence seizures

If you suspect that your loved one might have dravet syndrome, ask your neurologist about the tests, which are available finished by your doctor or commercially. An epilepsy panel will test for SCN1A, as well as many other genes commonly related to epilepsy. After testing, it is optional to consult with a genetic counselor.

Dravet syndrome treatment options

Seizures in dravet syndrome can be difficult to control but can be reduced with anti-seizure medications such as clobazam, stiripentol, topiramate, and valproate. Because the course of the disorder varies from one individual to another, treatment protocols may vary. A high-fat, low carbohydrate diet can also be beneficial, known as a ketogenic diet. Although adjusting your diet can help, it does not eliminate symptoms. Until a better form of treatment or cure is discovered, people with this disease will have myoclonic epilepsy for the rest of their lives.

It is now known that certain anti-seizure medications that are classified as sodium channel blockers make seizures worse in most dravet patients. These medications include carbamazepine, gabapentin, lamotrigine, and phenytoin. Treatments include cognitive rehabilitation through psychomotor and speech therapy. In addition, valproate is often given to prevent the recurrence of febrile seizures, and benzodiazepine is used for long-lasting seizures, but these treatments are often insufficient.

Stiripentol was the only drug for which a randomized, double-blind, placebo-controlled trial was conducted, and this drug showed efficacy in trials. It acts as a GABAergic agent and as a positive allosteric modulator of the GABAA receptor. Stiripentol, which can improve refractory focal epilepsy as well as dravet syndrome, supplemented with clobazam and valproate, was approved in Europe in 2007 as a therapy for dravet syndrome and has been found to reduce the overall rate of seizures by 70%. For more drug-resistant seizures, topiramate and the ketogenic diet are used as alternative treatments.

Cannabidiol (CBD) was approved in the United States for the treatment of dravet syndrome in 2018. A 2017 study showed that the frequency of seizures per month decreased from 12 to 6 with the use of cannabidiol, compared to a decrease from 15 to 14 with placebo.

Dravet syndrome complications

  • Although the decline in cognitive function stabilizes with age in some people with dravet syndrome, most adolescents and adults with the disorder have mild to profound intellectual disability and require 24-hour supervision. This disability, along with seizures and other comorbidities, can also cause severe anxiety and social isolation, which inevitably affects the quality of life of caregivers as well.
  • Gait and balance problems associated with dravet syndrome can lead to falls. These falls, along with an increased risk of osteopenia (low bone mass), can cause bones to break. A survey study found that 70 percent of respondents use a wheelchair or adaptive stroller sometimes.
  • Seizures can cause drowning if they occur while a person is in or near water. Seizures can also increase the risk of lung complications, such as aspiration pneumonia, which occurs when you breathe in food, stomach acid, or saliva into your lungs, which can lead to sepsis.