Arrhythmogenic right ventricular dysplasia (ARVD)
ARVD is a disease that affects the muscle of the right lower chamber of the heart. In this rare type of cardiomyopathy, the muscle tissue dies and is replaced with fatty tissue and scar tissue. This causes the heart to beat abnormally. Evaluation of the disease can be difficult for doctors because ARVD often looks like other cardiomyopathies.
Brugada syndrome
Brugada Syndrome is a genetic disease that can lead to a ventricular arrhythmia, abnormal rhythms in the bottom two chambers of the heart. Complications from this syndrome usually happen when a person is resting or sleeping. People with this disease have an abnormal heartbeat pattern.
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
CPVT is a type of abnormal heart rhythm, or arrhythmia. It occurs when the lower chamber of the heart beats too fast.
Dilated cardiomyopathy
Dilated Cardiomyopathy is a disease that affects the lower left chamber of the heart. The heart muscle becomes enlarged, making it more difficult for the heart to pump blood effectively.
Ehlers-Danlos syndrome (EDS), vascular type
EDS is a group of inherited diseases that affect the body's connective tissues (skin, joints, and blood vessel walls). Vascular EDS can lead to an increased risk of rupture in a blood vessel, intestine, uterine wall, or other hollow organs. Some signs and symptoms of vascular EDS include overly flexible joints, stretchy and fragile skin, thin translucent (see through) skin, small earlobes, and big eyes.
Fabry disease
Fabry disease is genetic disease caused by the lack of a necessary enzyme (alpha-galactosidase A). Common symptoms include difficulty breathing, chest pain, and fainting. Complications of Fabry Disease can include progressive kidney and heart damage, which can lead to heart failure or even sudden death.
Familial thoracic aortic aneurysm and dissection (FTAAD)
FTAAD is a rare disease that affects the large blood artery that moves blood from the heart to the rest of the body (aorta). Those with FTAAD can have a weakened or enlarged aorta. This can lead to a tear in the aorta (dissection), a potentially life-threatening complication.
Hypertrophic cardiomyopathy
Hypertrophic Cardiomyopathy is a disease that affects the heart muscle causing it to become abnormally thick. This thickening makes it more difficult for the heart to pump blood efficiently.
Left ventricular noncompaction (LVNC)
LVNC is a rare disease that occurs when the left lower chamber of the heart does not develop properly. This can lead to dangerous heart rhythms and often severe weakness of the heart muscle. Common symptoms include being out of breath, fatigue, ankle swelling, and not being able to exercise.
Loeys-Dietz syndrome (LDS)
LDS is a rare disease that weakens the body's connective tissues (skin, joints, and blood vessel walls). This weakening can cause small tears in the main artery of the body causing it to rupture. A rupture is a serious complication that can lead to death if it is not caught and treated early. Other symptoms of LDS include widely spaced eyes, cleft palate, weak bones, and thin translucent ("see through") skin.
Long QT syndrome
Long QT syndrome causes the heart to take longer to recharge after each beat. This can lead to an abnormal rhythm in the lower chamber of the heart (ventricular arrhythmia). Ventricular arrhythmias can cause sudden cardiac arrest.
Marfan syndrome
Marfan syndrome is a condition that affects the body's connective tissues (skin, joints, and blood vessel walls). People with Marfan tend to be tall and thin with long arms, legs, fingers, and toes. They can have eye lens dislocations. They may also have an enlargement of the large artery that carries blood to the rest of the body (aorta). This can lead to a tear in the aorta (dissection), a potentially life-threatening complication.