Conditions

The Cardiovascular Genetics Clinic provides comprehensive diagnostic evaluations, genetic counseling and follow-up for individuals and families of individuals with a history of or are at risk for:

• Arrhythmia
• Brugada Syndrome
• Catecholaminergic Polymorphic Ventricular Tachycardia
• Long QT Syndrome
• Short QT Syndrome
• Sudden Cardiac Arrest/Death
• Cardiomyopathy
• Hypertrophic Cardiomyopathy
• Dilated Cardiomyopathy
• Arrhythmogenic Cardiomyopathy
• Left Ventricular Noncompaction
• Transthyretin Amyloidosis
• Hemochromatosis
• RASopathies
• Muscular Dystrophy
• Aortopathy
• Marfan Syndrome
• Loeys-Dietz Syndrome
• Thoracic Aortic Aneurysm / Dissection
• Connective Tissue Disorder
• Hypercholesterolemia
• Pulmonary Hypertension
• Pulmonary Arterial Hypertension
• Hereditary Hemorrhagic Telangiectasia
• Congenital Heart Disease
• Athlete’s Heart

Conditions in Detail:

Cardiomyopathy: Cardiomyopathy refers to diseases of the heart muscle where the heart loses its ability to pump blood effectively and maintain normal electrical function.

1. Familial Dilated CM
2. HCM:

Hypertrophic cardiomyopathy (HCM) is a common condition where the heart loses its ability to pump blood effectively and maintain normal electrical function. It occurs because of an enlargement of heart cells, leading to the thickening of the walls of the heart (usually in the left ventricle). This is what can cause a blockage of blood flow from out of the heart. Hypertrophic cardiomyopathy is usually caused by changes, or mutations, in heart muscle proteins, causing the heart muscle to grow abnormally thick.  People with hypertrophic cardiomyopathy also have an abnormal arrangement of heart muscle cells, a condition known as myofiber disarray. This disarray can contribute to arrhythmias in some people, including atrial fibrillation, ventricular tachycardia and ventricular fibrillation.

1. Restrictive CM
2. Ischemic CM
3. ARVC

Channelopathy:

Channelopathies refer to a diverse group of disorders caused by mutations in the genes for ion channels. Ion channels are present in all cells throughout the body and are responsible for many important cell functions. Dysfunction of ion channels results in diseases that can affect many different systems of the body, including the nervous system and the cardiovascular system (including diabetes, hypertension, long QT syndrome, short QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia).

1. Long QT syndrome
2. Short QT syndrome
3. Brugada syndrome
4. CPVT (Catecholaminergic Polymorphic Ventricular Tachycardia)

Aortopathy:

Aortopathy refers to any disease of the aorta, or the major artery that leaves the left ventricle of the heart to supply the body with oxygen-rich blood. It is frequently encountered in patients with congenital heart disease (CHD). Various aortopathies include:

• Coarctation of the aorta (CoA), the narrowing of the aorta, which causes the left ventricle to pump blood at a higher pressure than normal. It can lead to high blood pressure or heart damage. Many people, however, have no symptoms and the condition often isn't detected until adulthood. CoA accounts for 5 to 8 percent of all congenital heart defects.
• Bicuspid aortic valve disease (BAVD), where the one-way valve between the heart and the aorta, the aortic valve, has only two flaps instead of the normal three. These flaps or leaflets open widely and close securely to regulate blood flow, allowing blood to flow from the heart to the aorta and preventing blood from flowing backwards into the heart. In BAVD, although the aortic valve doesn’t function perfectly, it may function adequately for years without causing symptoms or obvious signs of a problem. People with BAVD can also have abnormal coronary arteries, aortic aneurysm and high blood pressure. BAVD is a congenital heart defect, meaning it is present from birth. About 2% of the population has BAVD, and it is twice as common in males as in females.
• Tetralogy of Fallot (TOF), a disease of the heart that presents as four problems: a hole between the lower chambers of the heart (a ventricular septal defect, or VSD), an obstruction from the heart to the lungs (stenotic pulmonary valve), the aorta lying over the hole in the lower chambers (the VSD), and the muscle surrounding the right ventricle becoming thickened.

Aortopathies can also be key feature in genetic syndromes with connective tissue disorders, such as Marfan, Loeys-Dietz, vascular Ehlers-Danlos, aneurysm-osteoarthritis and Turner syndrome.

Congenital Heart Disease:

“Congenital heart disease” and “congenital heart defect” refer to the same thing: a variety of heart defects or abnormalities that are present from birth. A defect results when the heart or blood vessels near the heart don't develop normally before birth, and can be both inherited or the result of environmental exposures. Many of the conditions treated in the clinic, such as aortopathy, channelopathy and cardiomyopathy are associated with CHD.