Hypertrophic cardiomyopathy (HCM) is a disease that causes the wall of the heart muscle to thicken impacting the efficiency of the heart muscle and causing obstruction of blood flow. HCM is also an inherited disease and is associated with abnormal heart rhythms, which can sometimes be life-threatening.

People with HCM can have the following symptoms:

• Shortness of breath
• Chest pain or discomfort
• Fainting
• Palpitations or the sensation of feeling the heartbeat
• Dizziness

A minority of people with HCM will suffer from the most serious complications (i.e. sudden death, heart failure and/or stroke). It is important to note that HCM has a wide range of severity and some people may not experience any symptoms for quite a while. They could have normal heart evaluations well into their adulthood without showing any signs, while others may begin to show signs/ symptoms starting at a very young age. It is difficult to predict whether a patient will have a mild or severe form of the disease. Although the disease is extremely rare in the athletic population, it remains the #1 cause of sudden death in athletes during strenuous exercise.

Diagnosis of HCM requires thorough cardiology, a physical exam (thus listening to the heart and lungs for any abnormalities), a genetics evaluation, and a complete medical history (including family medical history). Additional tests typically include echocardiography and electrocardiogram (ECG). If tests are not conclusive, your doctor will require further tests that include a cardiac MRI, a stress test, monitoring for abnormal heart rhythms and cardiac catheterization.

Genetic Link

Being a genetic cardiac disease, if a patient is diagnosed with HCM, then their immediate family members need to undergo genetic tests to see if they also carry it. Family members can be tested for that same genetic mutation and should be followed up every few years by a cardiologist. By finding which member has the gene mutation, it can arm the carrier with knowledge on how to preserve their health while avoiding strenuous exercise. They can seek regular care with a cardiologist, who may prescribe specific medications or arrange for a pacemaker or defibrillator to be implanted.

Long QT syndrome (LQTS) is an abnormality in the heart’s electrical system that causes very fast and potentially dangerous heart rhythms, leading to a sudden loss of consciousness and in some cases — sudden cardiac death. The term “Long QT” refers to the abnormal pattern on an electrocardiogram (ECG). The “QT” interval is the ECG measure of the period when the lower chambers of your heart (the ventricles) are triggered to contract and then prepare to contract again. Long QT occurs when the contraction interval is longer than normal.

Although the exact frequency of LQTS is unknown, it may cause 2,000 to 3,000 sudden deaths in children and young adults each year in the U.S. The most common symptom is a sudden loss of consciousness or fainting, called Syncope. The condition may also cause seizures and in some instances, cardiac arrest and sudden death. These symptoms do not always occur and thus, the severity of the condition varies greatly. Some people never experience syncope and others may have frequent episodes. It is important to note that symptoms usually occur without warning and are caused by a very fast heart rhythm called torsade de pointes. Syncope may occur during or just after physical exertion, emotional excitement or sudden auditory arousal, such as from an alarm clock.

LQTS is usually diagnosed with an electrocardiogram (ECG). However, the ECG isn’t a perfect test for the condition because some people with the disorder will have normal tests, or tests might be normal on some days and abnormal on other days.

LQTS is usually inherited, which means it may affect multiple family members. Each child, irrespective of gender, has a 50% chance of inheriting the genetic mutation that causes the condition of his/her parent. Once a family member is identified with the condition, it is very important to test all other family members. All close relatives should see a cardiologist and have an ECG as well.

Genetic testing can also help diagnose LQTS. Once genetic testing has identified the genetic mutation causing the condition in a family, other family members can be tested for that same genetic mutation to see if they also inherited it. Such testing can also determine which sub-type of LQTS your family has, although it cannot find the cause of the mutation. Knowing which sub-type of LQTS a patient has can help determine which is the best mode of treatment for him/ her.

Loeys-Dietz syndrome (LDS) is a genetic disorder that affects the connective tissue in the body. Individuals with LDS exhibit a variety of medical features in the cardiovascular, musculoskeletal, skin and gastrointestinal systems. Although it is an inherited disease, it cannot be tested the same way as other genetic cardiovascular diseases because no two individuals will show the same identical medical characteristics.

The main clinical characteristics include:

• Widely spaced eyes
• Cleft palate or bifid uvula
• Aortic and arterial aneurysms/dissections with the corkscrew structure of the arteries

Other findings can include:

• Scoliosis or Kyphosis
• Indented or protruding chest wall
• Contractures of fingers and toes
• Long fingers and lax joints
• Club foot
• Premature fusion of the skull bones
• Joint hypermobility
• Congenital heart problems including patent ductus arteriosus
• Atrial septal defect
• The translucency of the skin with a velvety texture
• Abnormal junction of the brain and medulla
• Bicuspid aortic valves

Marfan syndrome is a rare, inherited disorder of connective tissue and growth. The disease affects several parts of the body and is highly variable, which means that different people with the condition will have different parts of their body affected to a greater or lesser degree. The features of the disease result from changes in the body’s connective tissue and in the control of body growth. Connective tissue holds our bodies together and is found throughout the body, which is why Marfan Syndrome can affect many different parts of the body.

The most common and serious feature of Marfan syndrome is dilation or widening of the aorta, which is the main blood vessel carrying blood from the heart to the entire body. The dilation can progress until the wall of the aorta tears, a condition called aortic dissection. This is the most serious or life-threatening feature of Marfan syndrome. However, aortic dissection can be avoided by taking appropriate medicine and also with preventive surgery to replace a dilated aorta before it tears.

Since Marfan syndrome is partly caused by changes in growth regulation, people with the disorder can often have some of the following traits:

• They are taller than people in their family who do not have Marfan syndrome
• They may have long, thin fingers and long arms and legs
• They may have a dislocation of the lens in the eye that also causes nearsightedness or myopia that can progress quickly
• They may have a detached retina, early glaucoma or early cataracts

There is not one simple test to make a diagnosis for Marfan syndrome, so when a patient is being checked for the possibility of the condition there are a few features that need to be looked for. These features consist of observing four skeletal signs with one or more signs in another body system, such as ocular and cardiovascular in one individual before further testing can be considered. The most common and serious feature of Marfan syndrome is the dilation or widening of the aorta, which is the main blood vessel that carries blood out of the heart to the rest of the body.

Genetic testing can help with the diagnosis because it can look to see if the FBN1 gene has a mutation. Since this gene is hereditary, if the FBN1 mutation is found in a patient then the rest of the family should also be tested.

Noncompaction cardiomyopathy is a heart muscle condition that occurs in the left ventricle when the muscular wall of the main pumping chamber of the heart becomes spongy and “non-compacted”. This type of cardiomyopathy is not fully understood and is a topic of ongoing research. Moreover, it is difficult to predict the prognosis of people affected by this condition. Non-compaction cardiomyopathy is thought to result from a halt in the normal development of a fully thick compacted surrounding wall for the heart muscle. This abnormal development reduces the mass of the heart muscle and blood circulation.

Symptoms caused by noncompaction cardiomyopathy are not specific and are mainly determined by how much heart function is affected. Individuals who have the described structural features, but the normal performance of the heart, maybe entirely free of symptoms. Typical symptoms that may appear are usually:

• S.O.B. (shortness of breath)
• Fatigue
• Swelling of the lower extremities
• limited physical capacity and exercise intolerance

This condition is also thought to be associated with an increased risk of blood clots in the meshwork of prominent heart muscle bands. In other words, the blood flow in this region is relatively slow compared to other parts of the heart. Another risk possibly associated with this condition is a fast cardiac rhythm, which may result in a drop in blood pressure, loss of consciousness and, if not treated, death in rare cases.

Restrictive cardiomyopathy refers to a set of changes in how the heart muscle functions, and is one of the causes for cardiac amyloidosis. These changes cause the heart to fill poorly (more common) or squeeze poorly (less common). Sometimes, both problems are present. In a case of restrictive cardiomyopathy, the heart muscle is normal size or slightly enlarged. Most of the time it also pumps normally. However, it does not relax normally during the time between heartbeats when the blood returns from the body (diastole). When the disease progresses, the heart may not pump blood strongly. The abnormal heart function can affect the lungs, liver, and other body systems. Restrictive cardiomyopathy may affect either or both of the lower heart chambers (ventricles). It is very often linked to a disease of the heart muscle. Restrictive cardiomyopathy is a rare condition. The most common causes, in addition to amyloidosis, are scarring of the heart from an unknown cause (idiopathic myocardial fibrosis). It also can occur after a heart transplant.

Causes:

• Carcinoid heart disease
• Diseases of the heart lining (endocardium), such as endomyocardial fibrosis and Loeffler’s syndrome (rare)
• Iron overload (hemochromatosis)
• Sarcoidosis
• Scarring after radiation or chemotherapy
• Scleroderma
• Tumors of the heart

Symptoms:

• Cough
• Breathing problems that occur at night
• Fatigue and inability to exercise
• Loss of appetite
• Swelling of the abdomen
• Swelling of the feet and ankles
• Uneven or rapid pulse
• Chest pain
• Lack of focus
• Low urine output
• Need to urinate at night (in adults)
• Testing :
• Cardiac catheterization and coronary angiography
• Chest CT scan
• Chest x-ray
• ECG (electrocardiogram)
• Echocardiogram and Doppler study
• MRI of the heart
• Nuclear heart scan (MUGA, RNV)
• Serum iron studies
• Serum or urine protein tests

Symptoms caused by noncompaction cardiomyopathy are not specific and are mainly determined by how much heart function is affected. Individuals who have the described structural features, but the normal performance of the heart, maybe entirely free of symptoms. Typical symptoms that may appear are usually:

• S.O.B. (shortness of breath)
• Fatigue
• Swelling of the lower extremities
• limited physical capacity and exercise intolerance

This condition is also thought to be associated with an increased risk of blood clots in the meshwork of prominent heart muscle bands. In other words, the blood flow in this region is relatively slow compared to other parts of the heart. Another risk possibly associated with this condition is a fast cardiac rhythm, which may result in a drop in blood pressure, loss of consciousness and, if not treated, death in rare cases.