What is HCM?

Hypertrophic Cardiomyopathy is a condition that causes a thickening of the heart muscle causing it to become too bulky. The hypertrophy or growth can become so significant that it interferes with how the heart pumps. HCM is the most common cardiomyopathy and occurs in about 1 in 300 individuals. HCM runs in families and specific genetic mutations having been identified that are linked to HCM. The vast majority of people with HCM live long and healthy lives. Most individuals with HCM don’t even show symptoms. However, a small number of individuals with HCM are at increased risk for a serious complication due to heart failure. This risk is particularly high in young people with this condition. Watch

What are the symptoms of HCM?

Most people with HCM do not have any symptoms of the disease. However, it is important for both family members and healthcare providers to recognize the symptoms when they occur. Here are some common symptoms:

• Chest pain (particularly worse when exercising or after heavy meals)
• Shortness of breath (particularly worse when exercising or after heavy meals)
• Feeling tired (fatigue)
• Feeling of fluttering or fast heartbeats (palpitations)
• Lightheadedness
• Passing out spells (syncope)
• Swelling in your arms or legs (edema)
• Heart murmur (detected by doctor)

How is HCM diagnosed?

Since HCM runs in families, it is important to screen those individuals with family members who have the disease. A physician may suspect HCM if the individual has some of the symptoms listed above or if a family member has HCM, particularly at a young age. The goal of screening for HCM is:

• To determine whether the individual has HCM
• To determine the severity of HCM if it is present

The initial test done to diagnose HCM is an Electrocardiogram or EKG. This test looks for any abnormal electrical activity in the heart. Most individuals with HCM have abnormal electrical activity in the heart that shows up on the EKG. Some individuals may be asked to wear a Holter monitor (a portable version of the EKG) for 24-48 hours. Another test is a Trans-Thoracic Echocardiogram which looks at the structure of the heart. Individuals with HCM will have increased growth of their left ventricle (lower chamber). Some individuals will undergo a treadmill Exercise Stress Test. This test looks at how the heart responds to exercise.

The results from these tests along with the description of an individual’s symptoms and the clinical evaluation will help the physician determine whether the individual has HCM and to what severity. HCM runs in families, so it’s important to screen family members of those who have HCM.

How is HCM Treated?

The risk of serious complications (sudden death) among individuals with HCM is due to the overgrowth of the left ventricle (lower chamber). The left ventricle can grow so much that it blocks the ability of blood to leave the heart which makes it more difficult to pump the blood to the body. The treatment of HCM is directed towards preventing this scenario from occurring.

Physicians and patients can work together to ensure that individuals with HCM live long and healthy lives. Some possible therapies or treatments for HCM include:

• Avoiding dehydration
• Consulting a physician before increasing physical exertion or participation in competitive sports
• Screening close relatives of the individuals with HCM for HCM
• Taking medications to relieve chest pain or shortness of breath.
• Taking medicines to control the heart’s rhythm
• Undergoing surgery to implant a device called an implantable cardioverter-defibrillator, or ICD. (This device keeps the heart beating normally)
• Surgery or other treatments may be used to reduce the size of the left ventricle. (This is done only when medicines do not work)

What are some healthy lifestyle choices I can make if I am diagnosed with HCM?

Individuals with HCM should drink plenty of water to prevent dehydration and consult their physician for guidance on participation in competitive sports.

 

HCM: IMPORTANT TERMINOLOGY

Atrium (Atria pl): The upper chamber of the heart. There are two atria: left and right.

Cardiomyopathy: Cardiomyopathy is a long-term disease of the heart muscle (myocardium).

Echocardiogram: An echocardiogram is a type of ultrasound test that is used to look at the structure of the heart. The sonographer will move a transducer, with cool gel on it, across your chest and upper ribs. The transducer uses painless sound waves to look at the structure of the heart. Watch

Electrocardiogram (EKG or ECG): An electrocardiogram is a test that measures the electrical activity in the heart. A number of electrodes (stickers) are put on the skin on the upper chest, arms, and legs. These are then connected to a monitor that records a snapshot or picture of how the heart is pumping. This test is used to look for any abnormal electrical activity in the heart. Watch

Exercise Stress Test: The exercise stress test is done while the individual walks or runs on a treadmill while connected to the EKG machine (see EKG). The test determines how the heart responds to exercise. Watch

Genetic Mutation: A genetic mutation is a change in an individual’s DNA that can lead to improper functioning of their body’s cells. These mutations or changes may be passed down through generations. Watch

Hypertrophy: Hypertrophy is the increased growth of a tissue or organ (in this case the heart).

Implantable Cardioverter Defibrillator (ICD): The ICD is a device put under the skin that tracks the heartbeat and can deliver a shock to correct the heartbeat if an irregular heartbeat occurs.Watch

Ventricle: The lower chamber of the heart. There are two ventricles: left and right.

Pediatric Cardiomyopathies

In addition to Hypertrophic Cardiomyopathy (HCM), there are several other types of cardiomyopathies caused by abnormalities in the heart muscle, including Dilated Cardiomyopathy (DCM), Restrictive Cardiomyopathy (RCM), Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and Left Ventricular Non-Compaction Cardiomyopathy (LVNC).

For more information, visit:

Children’s Cardiomyopathy Foundation

What is LV Non-compaction (LVNC)?

Left Ventricular Non-compaction is an uncommon congenital disease in which the left ventricle has an abnormal structure. This abnormal structure interferes with the way the heart beats and pumps blood. LVNC can run in families.

What are the symptoms of LV Non-compaction?

LV Non-compaction may be diagnosed by the initial symptoms of the patient. Some possible symptoms include:

• Shortness of breath
• Chest pain
• Feeling of heart racing
• Fainting

Some major complications of LVNC include:

• Stroke
• Heart Failure
• Irregular Heart Beat

How is LV Non-compaction diagnosed?

The diagnosis of LVNC focuses on identifying an abnormal structure of the left ventricle (the left bottom chamber of the heart). LVNC may be diagnosed by a physical exam, an abnormal electrocardiogram (EKG or ECG), or an abnormal echocardiogram.

How is LV Non-compaction treated?

The treatment for LVNC depends on the stage of disease and complications.

For possible heart failure, there are a number of medications that can help with the symptoms. For individuals who are at risk of having a stroke, blood thinning medications may be required. Individuals with LVNC are screened yearly for the presence of an abnormal heart beat.

Certain patients with LVNC may need to consult their physician for guidance on participation in exercise or high endurance sports. For patients with advanced disease, heart transplantation is an option for treatment. Family members of individuals with LVNC should be tested for the disease as it runs in families.

 

LVNC: IMPORTANT TERMINOLOGY

Atria (s. Atrium): The upper chambers of the heart. There are two atria: Left and Right.

Congenital: Any disease that has been present in an individual since birth.

Echocardiogram: An echocardiogram is a type of ultrasound test that is used to look at the structure of the heart. The sonographer will move a transducer, with cool gel on it, across your chest and upper ribs. The transducer uses painless sound waves to look at the structure of the heart. Watch

Electrocardiogram (EKG or ECG): An electrocardiogram is a test which measures the electrical activity in the heart. A number of electrodes (stickers) are put on the skin on your upper chest, arms, and legs. These are then connected to a monitor that records a snapshot or picture of how the heart is contracting. This test is used to look for any abnormal electrical activity in the heart. Watch

Ventricles (s. Ventricle): The lower chambers of the heart. There are two ventricles: left and right.

What are the Congenital Long QT Syndromes?

The heart is a muscle that contracts due to an electrical current that flows through it. This electrical current makes sure the heart beats with a regular rhythm. If there are changes to this electric current then the heart can beat with an abnormal rhythm. Congenital Long QT syndromes are a group of disorders that result in an abnormality in this electric current. This defect can cause the heart to go into a dangerous rhythm. Individuals are at risk of serious complications from this rhythm.

What are the Symptoms of Congenital Long QT Syndromes?

Many patients with Long QT will not have any symptoms of the disease. Some symptoms that can happen with Long QT syndromes are:

• Fainting (syncope)
• Feeling of fluttering or rapid heartbeats (palpitations)
• Lightheadedness
• Seizures or episodes which cause an individual to move or behave strangely
• Trouble hearing

How are the Congenital Long QT Syndromes Diagnosed?

The first step in diagnosing Long QT Syndromes is an Electrocardiogram or EKG. This test measures the electrical activity of the heart. Individuals with one of the Long QT Syndromes have specific irregularities on the EKG. An individual may be asked to wear a Holter monitor, which is a portable EKG monitor, for about 24-48 hours. This can monitor an individual’s heart rhythm for a longer period of time. The individual may undergo a treadmill Exercise Stress Test that determines how the heart responds to exercise.

Congenital Long QT Syndromes run in families. Individuals may require a blood test to see if they have the gene for the Long QT Syndromes. Because Long QT often runs in families, it is important to screen individuals with family members who have Long QT.

The results from these tests will help the physician determine whether an individual has a Long QT Syndrome and how severe the disease has become. Some specific names of Long QT syndromes include: Romano-Ward Syndrome and Lange-Nielsen Syndrome.

How are the Congenital Long QT Syndromes treated?

The focus of treatment for the Long QT Syndromes is to prevent the heart from going into an abnormal rhythm.

The treatment focuses on identifying and avoiding possible triggers for the abnormal rhythm. Possible triggers include: exercise; loud noises; emotional outbursts; and certain medications.

Medications for Long QT syndromes may include a beta-blocker which is a class of medication that slows down the heart rate. Some possible side effects of beta-blockers include: feeling tired, headache, upset stomach, constipation, dizziness, and shortness of breath.

Pacemakers or ICDs may be placed to monitor an individual’s heart beat and correct it if necessary.

In case the individual stops breathing or loses a pulse (Cardiac Arrest), Emergency Medical Services (EMS) should be notified. CPR should be performed, until the EMS arrives.

What lifestyle changes should I make if I am diagnosed with Long QT Syndrome?

Try to avoid the triggers that may cause the heart to go into an abnormal rhythm. Follow up regularly with your physician and follow their recommendations.

 

LONG QT SYNDROMES: IMPORTANT TERMINOLOGY

Arrhythmia: An arrhythmia is an abnormal heart beat. Some abnormal heartbeats are harmless while others can be dangerous. An arrhythmia is identified on an Electrocardiogram or EKG. Watch

Automated External Defibrillator (AED): An AED is a device that can detect life-threatening abnormal heart rhythms and can correct them by delivering an electric shock. If a life-threatening heart rhythm is present, the AED will deliver an electric shock to the individual.  An AED is simple to use- just open the lid and the instructions will be read to you. The AED will not shock somebody if they have a normal pulse. AED devices should be used with care. It is important to make sure that noone else is touching the patient when the shock is delivered. Watch

Cardiopulmonary Resuscitation (CPR): CPR is needed when an individual is unresponsive and they don’t have pulse and/or they are not breathing.  CPR can keep blood flowing to the brain and other important organs. CPR involves pushing hard and fast on the center of the chest until medical personnel arrives or an automated external defibrillator (AED) is available. Watch

Congenital: A congenital condition is a condition that an individual has since birth.

Electrocardiogram (EKG or ECG): An electrocardiogram is a test which measures the electrical activity in the heart. A number of electrodes (stickers) are put on the skin on your upper chest, arms, and legs. These are then connected to a monitor that records a snapshot or picture of how the heart is contracting. This test is used to look for any abnormal electrical activity in the heart. Watch

Exercise Stress Test: The exercise stress test is done while the individual walks or runs on a treadmill while connected to the EKG machine (see EKG). The test determines how the heart responds to exercise. Watch

Gene/Genetic: A gene is a segment of DNA which determines how the cells of the body function. Genes determine everything from an individual’s hair color to height. The alteration of a gene is called a genetic mutation. Watch

Holter Monitor: A Holter monitor is a portable form of an EKG that keeps track of an individual’s heartbeat. An individual will usually have to wear a Holter monitor for 24-48 hours. Watch

Implantable Cardioverter Defibrillator (ICD): The ICD is a device put under the skin that tracks the heartbeat and can deliver a shock to correct the heartbeat if an irregular heartbeat occurs.Watch

Pacemaker: Pacemakers are devices that are implanted under the skin. The pacemaker has wires that connect to the heart. A pacemaker can detect an abnormal heart beat and then send an electrical impulse to correct it. Watch

Seizure: A neurologic event due to abnormal electrical activity in the brain. Seizures can range from affecting a single body part to affecting the whole body. Watch

What is Marfan Syndrome?

Marfan syndrome is a condition caused by abnormal fibers within the tissues of the body. The abnormal tissues can be found in the aorta, which can start to bulge and become enlarged, which is known as an aneurysm. This can lead to the aorta tearing or breaking completely. The valves of the left side of the heart can also be affected. Both the aortic valve (which sits between the left ventricle and the aorta) and the mitral valve (which sits between the left atrium and left ventricle) are also affected by the abnormal fibers, causing them to become weak and unable to stand up to the pressures put on them by blood flowing through the heart. The aortic valve may also be stretched apart due to the enlarged aorta. This leads to blood flowing backwards into the heart from the aorta.

What are the symptoms of Marfan Syndrome?

People with Marfan syndrome are usually very tall, with long arms, legs, fingers, and toes. They may have a curved back and flexible joints and they may have problems with vision. People may have the following symptoms:

• Fatigue
• Shortness of breath
• Heart palpitations
• Chest pain (that can be felt in the back as well)

How is Marfan Syndrome diagnosed?

Marfan syndrome is usually diagnosed by a combination of your presenting symptoms and family history.

How is Marfan Syndrome treated?

There is no treatment for Marfan syndrome. The symptoms of Marfan syndrome are treated individually as they present. Regular visits to the cardiologist are needed to monitor the aorta and heart valves for any problems that may arise. Medications may be used to prevent high blood pressure and irregular heartbeats. If the aorta or heart valves become extensively damaged, surgery is necessary to fix the problem.

 

MARFAN SYNDROME: IMPORTANT TERMINOLOGY

Atrium (Atria pl.): The upper chambers of the heart. There are two atria: left and right.

Aorta: The great artery arising from the left ventricle of the heart; the largest artery in the human body.

Aortic valve: The three-leafed valve that separates the left ventricle from the aorta.

Echocardiogram: An echocardiogram is a type of ultrasound test that is used to look at the structure of the heart. The sonographer will move a transducer, with cool gel on it, across your chest and upper ribs. The transducer uses painless sound waves to look at the structure of the heart. Watch

Electrocardiogram (EKG or ECG): An electrocardiogram is a test that measures the electrical activity in the heart. A number of electrodes (stickers) are put on the skin on your upper chest, arms, and legs. These are then connected to a monitor that records a snapshot or picture of how the heart is contracting. This test is used to look for any abnormal electrical activity in the heart. Watch

Genetic Mutation: A genetic mutation is a change in an individual’s DNA which can lead to improper functioning of their body’s cells. These mutations or changes may be passed down through generations. Watch

Mitral valve: The two-leafed valve that separates the left atrium from the left ventricle.

Ventricle (Ventricles pl.): The lower chambers of the heart. There are two ventricles: left and right.

What is Mitral Valve Prolapse?

Mitral Valve Prolapse (MVP), present in about 2% of the population, is a condition in which one of the valves of the heart doesn’t close properly. This defect allows blood to flow backward through the heart. This backward flow can cause damage to the heart and decreases its ability to pump blood to the body. MVP can be a congenital disease and can occur in families or in individuals with no prior family history. The condition develops gradually as the leak increases.

MVP can lead to infections of the heart valves, strokes or abnormal heart rhythms over time. Watch

What are symptoms of Mitral Valve Prolapse?

There are a number of symptoms that may occur with Mitral Valve Prolapse. These symptoms include:

• Rapid heartbeat (Palpitations)
• Trouble breathing
• Dizziness
• Numbness
• Tingling
• Passing out spells [Fainting (Syncope)]
• Chest pain
• Anxiety disorders

An individual should consult a healthcare professional if any of these symptoms are present.

How is Mitral Valve Prolapse Diagnosed?

There are certain signs and symptoms that may be present with MVP. The physician will check for a heart murmur (extra or abnormal sound) when listening to your heart. Some tests to diagnose MVP may include an Electrocardiogram (EKG) or Echocardiogram.

How is MVP Treated?

Those who have Mitral Valve Prolapse but don’t have symptoms may not need treatment. Many patients appear to benefit from a change in lifestyle, including aerobic exercise training and avoidance of stimulants (caffeine), alcohol, and undue fatigue. Individuals with MVP may also benefit from stress reduction. If you have symptoms your doctor may prescribe certain medications:

• Beta blockers– These medications slow your heart down
• Diuretics- These medications decrease the load on the heart. They may make individuals go to the bathroom frequently.
• Heart rhythm medications- These medication prevent the heart from going into an abnormal rhythm
• Blood thinning medications- These medications decrease the load on the heart. Individuals on blood thinning medication may experience easy bleeding or bruising.

Magnesium is a medication which may help with some symptoms, especially chest pain.

 

MITRAL VALVE PROLAPSE: IMPORTANT TERMINOLOGY

Cardiovascular MRI (CV MRI): The CV MRI looks at the structure of the heart to identify any abnormalities. Watch

Congenital Disease: Congenital refers to a condition diagnosed at birth.

Echocardiogram: An echocardiogram is a type of ultrasound test that is used to look at the structure of the heart. The sonographer will move a transducer, with cool gel on it, across your chest and upper ribs. The transducer uses painless sound waves to look at the structure of the heart. Watch

Electrocardiogram (EKG or ECG): An electrocardiogram is a test that measures the electrical activity in the heart. A number of electrodes (stickers) are put on the skin on your upper chest, arms, and legs. These are then connected to a monitor that records a snapshot or picture of how the heart is contracting. This test is used to look for any abnormal electrical activity in the heart. Watch

Valve: The heart has valves that direct blood flow through its chambers (the atria and ventricles). The valves open to let blood through and close to prevent blood from moving backward.

What is myocarditis?

Myocarditis is an inflammation of the heart. Usually viruses cause myocarditis, but other factors can also contribute including bacteria, toxins, or autoimmune processes. Myocarditis may go away on its own, but sometimes it can lead to more serious issues, such as dilated cardiomyopathy and arrhythmias.

What are the symptoms of myocarditis?

Symptoms of myocarditis include the following:

• Tiredness
• Chest pain
• A feeling that the heart is skipping a beat
• Swelling of the legs and feet (edema)
• Trouble breathing

How is myocarditis diagnosed?

Diagnosis of myocarditis is made by a combination of presenting symptoms and lab tests, which will show the doctor that the heart has been damaged and is currently inflamed. An EKG can also show whether there is an arrhythmia. Your doctor may also do imaging studies like a chest x-ray, MRI, echocardiogram, or cardiac catheterization.

How is myocarditis treated?

Myocarditis is treated depending on the cause. Usually, medicines are given to help the patient’s heart beat properly, decrease inflammation, and keep fluid from building up. Rest and oxygen may be required as well until the myocarditis is gone.

MYOCARDITIS: IMPORTANT TERMINOLOGY

Cardiac catheterization: A procedure to look at the heart more closely. During this procedure, a tube is placed through the patient’s arm into the blood vessel and advanced to the heart. Once in place, the doctor puts dye through the tube into the heart that shows up on x-ray. This lets the doctor see how the chambers, valves, and arteries of the heart are working.

Echocardiogram: An echocardiogram is a type of ultrasound test that is used to look at the structure of the heart. The sonographer will move a transducer, with cool gel on it, across your chest and upper ribs. The transducer uses painless sound waves to look at the structure of the heart. Watch

Electrocardiogram (EKG or ECG): An electrocardiogram is a test that measures the electrical activity in the heart. A number of electrodes (stickers) are put on the skin on your upper chest, arms, and legs. These are then connected to a monitor that records a snapshot or picture of how the heart is contracting. This test is used to look for any abnormal electrical activity in the heart. Watch

What is SVT?

SVT is a condition that causes an abnormal electric current in the heart. This abnormal current can cause the heart to beat abnormally fast. This can last from a few minutes to a few hours. The symptoms may come on at rest or when an individual exercises or moves around.

What are symptoms of SVT?

The fast heartbeat can cause some of the following symptoms:

• Feelings that your heart is racing
• Episodes of passing out
• Lightheadedness or dizziness
• Excessive sweating
• Chest pain
• Shortness of breath 

How is SVT diagnosed?

A physician will look for signs of SVT on the physical exam. They will feel your pulse to see if the heart is beating fast. The most important test for SVT is the Electrocardiogram or EKG. The EKG will help diagnose SVT as well as to determine which type of SVT. A Holter monitor may be used to record the heart’s electrical activity for a longer period of time.

How is SVT Treated?

The treatment for SVT focuses on fixing the electrical abnormality. There are a variety of treatments which include:

• Certain medications
• Cardioversion
• Ablation

Medications can help fix the unusual rhythm. If the medications don’t work, cardioversion may be attempted. If these approaches don’t work then a surgical procedure, called an ablation, may be performed.

 

SVT: IMPORTANT TERMINOLOGY

Ablation: A surgical procedure to correct an abnormal heart rhythm. The goal is to remove or destroy the region of the heart where the abnormal rhythm is originating from. Watch

Cardioversion: A mild electric current to correct an abnormal heart rhythm. The procedure involves placing a pad on the patient’s bare chest which senses the abnormal electric current and applies a mild electric shock to correct it. Patients are usually sedated so that they don’t feel the shock.

Electrocardiogram (EKG or ECG): An electrocardiogram is a test that measures the electrical activity in the heart. A number of electrodes (stickers) are put on the skin on your upper chest, arms, and legs. These are then connected to a monitor that records a snapshot or picture of how the heart is contracting. This test is used to look for any abnormal electrical activity in the heart. Watch

Holter Monitor: A Holter monitor is a portable EKG monitor which keeps track of your heartbeat. An individual will usually have to wear a Holter monitor for 24-48 hours. Watch

Paroxysmal: Symptoms that come suddenly and unexpectedly.

Supraventricular: This term refers to any abnormal electric current in the heart which starts in the upper chambers of the heart (atria).

Tachycardia: This term refers to a fast heartbeat. A fast heartbeat is one this greater 100 beats per minute. The heart rate can be measured by feeling a person’s pulse over a minute’s time.