Cardiovascular Genetics Program

Amyloidosis is a group of conditions characterized by abnormal proteins building up in the heart and other organs. Cardiac amyloidosis can cause cardiac function to deteriorate and possibly fail as the heart becomes stiffer. There are several recognized forms of amyloidosis. Genetic changes in the transthyretin (TTR) gene can cause familial transthyretin amyloidosis, which can be inherited. Many therapies are approved for hereditary amyloidosis. Inova Cardiovascular Genomics Center can assist in genetic confirmation of suspect amyloidosis and help develop a therapeutic management strategy for your family.

Aortopathy is any disease affecting the aorta, the main artery in the body within the chest, including aortic enlargement, aneurysms, and dissection/tearing. Twenty percent of aortopathies are caused by inherited, problematic genes that cause weakening in the aortic wall that can force the artery to expand and tear. Some conditions that predispose people to aortopathy include:

• Aneurysms
• Loeys-Dietz
• Marfan syndrome
• Vascular Ehlers-Danlos

People with immediate family members with aortopathy should undergo genetic testing for the predisposing gene for early diagnosis, treatment, and routine monitoring.

Arrhythmogenic right ventricular cardiomyopathy (ARVC), also called arrhythmogenic right ventricular dysplasia (ARVD), is a heart muscle disease. Fatty, fibrous tissue replaces normal heart muscle, interrupting normal electrical signals in the heart and potentially causing irregular and possible life-threatening heart rhythms. As a result, the heart becomes weaker over time, leading to heart failure.

Brugada syndrome is a hereditary cardiac condition characterized by ventricular arrhythmia or irregular heartbeats of the lower chambers. This arrhythmia can cause fainting, palpitations, and sudden death. Brugada syndrome can run through families, with the children of a person with Brugada syndrome having a 50/50 chance of inheriting the same condition.

Learn more about Brugada syndrome

Dilated Cardiomyopathy (DCM) refers to an enlarged heart size that compromises the heart's ability to pump blood throughout the body leading to dyspnea and fatigue. Patients can develop fluid retention that is termed heart failure. DCM is the most common form of cardiomyopathy and can have several causes. In younger patients and families with multiple individuals with DCM, we can detect a genetic change that can be passed down through generations in approximately 40% of patients. More than 40 genes have been associated with familial dilated cardiomyopathy. A genetic testing panel with many genes or a smaller test may be useful for you.

learn more about Dilated (nonischemic) Cardiomyopathy

Familial hypercholesterolemia is a genetic condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods. While the body needs this substance, too much cholesterol increases a person's risk of developing coronary artery disease. Inherited forms of hypercholesterolemia lead to coronary artery disease (CAD) at earlier-than-normal ages. Three different genes are known to cause 60-80% of cases of familial hypercholesterolemia.

Around 20 percent of people with thoracic aortic aneurysm and dissection (TAAD) are genetically predisposed to it, meaning it runs in the family. Inova offers the necessary genetic testing to diagnose and treat this condition.

Thoracic aortic aneurysms are often asymptomatic enlargements of the aorta (the artery that takes blood away from the heart) in the thoracic cavity (chest area). Without surgical repair, they can lead to a sudden tear/dissection of the inner wall of the aorta, allowing blood to flow between the aorta’s inner and outer walls. Subsequently, thoracic aortic aneurysms and dissections increase the risk of aortic rupture, which can cause life-threatening internal bleeding.

First-degree relatives of individuals known to have thoracic aortic aneurysms should undergo screening for Familial Thoracic Aortic Aneurysm and Dissection, as early detection and treatment are crucial.

Hypertrophic Cardiomyopathy (HCM) is an inherited disease of the heart muscle that affects an estimated 1 in 500 people worldwide. It is the most common genetic heart disease in the United States. The most consistent feature in HCM is thickening of the left ventricle, leading to obstruction of blood flow to the rest of the body. HCM also involves disarray or disorganization of the heart muscle cells, which can lead to an irregular heart rhythm (called arrhythmias) and sudden cardiac death. HCM can affect men and women of all ages, and symptoms can appear in childhood or adulthood. Mutations in one of several genes can cause HCM, and there is often variability in presentation amongst family members.

Learn more about Hypertrophic Cardiomyopathy

Loeys-Dietz Syndrome is a genetic disorder involving connective tissue. Connective tissue provides strength and flexibility to structures such as bones, muscles, and blood vessels. Abnormalities in the vasculature can lead to aortic dissection without appropriate medical and surgical therapy. There are four types of Loeys-Dietz syndrome, which are distinguished by their different genetic causes. Regardless of the type, signs and symptoms of Loeys-Dietz syndrome can become apparent anytime in childhood or adulthood, and the severity is variable. Common signs include wide-set eyes, aortic or arterial aneurysm or dissection, and various skeletal, skin and digestive features.

Learn more about Loeys Dietz syndrome:

• Loeys-Dietz Syndrome Foundation
• National Institutes of Health

Long QT syndrome (LQTS) is a disease that you can inherit or that can be acquired. It affects the bottom pumping chambers of the heart (ventricles) by impacting the highly coordinated ion channels regulating the flow of electricity needed to generate normal heartbeats. In LQTS, a problem in the ion channels leads to electrical instability, causing a very rapid and dangerous heart rhythm that can lead to fainting or sudden death. The name long QT stems from the abnormal wavelength read on the electrocardiogram (ECG) machine used to evaluate an individual's heartbeat. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. There are different types of LQTS caused by mutations in different genes.

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Marfan syndrome is a connective tissue disorder that affects approximately 1 in every 5,000 people worldwide. Marfan syndrome affects multiple parts of the body, but the cardiac complications are typically the most serious. People with this condition often have mitral valve prolapse, arrhythmia, dilation of the aorta, and are at high risk for aortic dissection without appropriate medical or surgical therapy. Genetic changes in the FBN1 gene cause Marfan syndrome, which can be inherited from parent to child.

Learn more about Marfan syndrome

Sudden cardiac arrest occurs when an acute cardiac event causes a person to die within minutes. Sometimes, a specific cause is identified and other times, the death remains unexplained and unrecognized as a cardiac arrest. There are several hereditary cardiac conditions that can cause sudden cardiac arrest, including cardiomyopathies or arrhythmias. Families with young or multiple individuals who had a sudden unexplained death or sudden cardiac may benefit from genetic testing to predict other relative's risk of sudden cardiac arrest.