Cardiovascular Genetic Conditions We Treat

There are four types of cardiomyopathy. Each type can be caused by genetic factors, environmental influences, or a combination of both genetics and environment.

Dilated Cardiomyopathy

Dilated cardiomyopathy (DCM) is characterized by an enlargement of the left ventricle chamber of the heart. DCM can be related to coronary artery disease (ischemic) or may arise purely from a defect in the cardiac muscle itself (non-ischemic). DCM usually begins as an enlarged heart and may progress into diminished functionality of the heart, and as the disease progresses, can lead to congestive heart failure.

Among patients diagnosed with DCM, over half of those with non-ischemic cardiomyopathy can be attributed to a genetic cause. More than 30 different genes have been associated with DCM, and genetic testing is available for a number of these genes.

In the cases of inherited DCM, there may be a family history of DCM (“enlarged heart”) or congestive heart failure. DCM can also be associated with life-threatening irregular heart rhythms (arrhythmias), which can be treated and prevented. Because of the risk of irregular heart rhythms, it is important to identify family members at risk. A family history of sudden death may be an indicator that some family members have DCM.

Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is characterized by a thickening of the heart walls, which interferes with the heart’s ability to pump. This condition can lead to congestive heart failure. Many people with HCM also have irregular heart rhythms (arrhythmia).

Thickening can occur in several places: The wall of the heart’s left ventricle, the wall of the right ventricle or the septum (the wall between the left and right ventricles). In some cases, thickening occurs in more than one location.

HCM can cause irregular heart rhythms — a problem that can be life-threatening — but can be prevented with device or medical management. So, it is important to identify the problem and take steps to help prevent it. A family history of sudden cardiac death or fainting may suggest the presence of HCM and the need for diagnostic testing. 

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by an enlargement of primarily the right ventricle of the heart with a change in the consistency of the heart tissue. ARVD/C can also affect the left ventricle with a similar change in the cells that occupy the heart (called “fibrofatty infiltration”). ARVD/C can also be associated with life-threatening irregular heart rhythms such as ventricular tachycardia. Cardiologists at UChicago Medicine can treat these irregular heart rhythms with medication or other interventions.

Restrictive Cardiomyopathy

Restrictive cardiomyopathy is characterized by normal left ventricular size but diastolic dysfunction. Restrictive cardiomyopathy that is infiltrative (amyloidosis, hemochromatosis, glycogen storage disease) can have a genetic component, for which genetic testing is available.

UChicago Medicine is one of few institutions in the country with expertise in cardiac amyloidosis. Our physicians specialize in the diagnosis and management of primary amyloidosis and hereditary/nonhereditary transthyretin (TTR) amyloidosis.

Patients with hereditary transthyretin amyloidosis can get the gene from one or both of their parents. ATTR proteins build up in the heart, leading to fluid retention and, if not treated, congestive heart failure. If you have a family history of cardiac amyloidosis, genetic testing can diagnosis if you have inherited this condition.

Because primary cardiac amyloidosis typically starts in the bone marrow, and heredity amyloidosis can impact the heart or the brain, we have a multidisciplinary team that include cardiology, hematology/oncology and neurology, that works together to diagnoses and treat your individual condition.

Aneurysms (outpouchings or bulges of the blood vessels) can develop as part of Marfan syndrome or can grow independently. Because aneurysms can run in families, early screening and proper treatment prevent a serious or deadly condition.

Marfan Syndrome
Marfan syndrome is a connective tissue disorder that can affect the heart valves and the aorta. Marfan syndrome is caused by mutations in the fibrillin-1 gene. These mutations can lead to abnormalities of the skeleton, tall stature, and problems involving the aorta or heart, such as aortic valve insufficiency, mitral valve insufficiency (mitral valve prolapse) or atrial fibrillation. People with Marfan syndrome are at risk for an enlarged aorta, which can lead to aneurysm and life-threatening rupture. Early diagnosis and medical management can slow the development of aortic enlargement.

Ehlers-Danlos syndrome
Someone with Ehlers-Danlos syndrome inherits very distinctive characteristics, such as skin that bruises easily, and usually has particular features, including thin nose, small ears and tight lips. Aside from their physical appearance, those with Ehlers-Danlos syndrome are also more at risk for vascular disease, more specifically, a weakened aorta and other main arteries in the body. If Ehlers-Danlos is not diagnosed and treated, large damaged arteries can leak or even burst, which is life threatening.
To understand your risk, knowing your family history is crucial. Our genetic counselors can perform genetic testing to identify if you or your family are at risk for Ehlers-Danlos and help you navigate any genetic patterns in order to prevent or minimize the condition.

Loeys-Dietz syndrome
Loeys-Dietz syndrome, a connective tissue disorder, is usually associated with autoimmune diseases, including lupus, scleroderma, rheumatoid arthritis and more. Loeys-Dietz syndrome can impact the heart and vascular system, which is often caused by an enlarged aorta (the biggest artery in the body). When the aorta grows bigger, it makes the artery more likely to rip, tear or rupture. Because this is a genetic condition that can affect a family, our team can provide genetic testing and counseling, and for those at risk, we can provide preventive care or treatment before this becomes serious condition.

Learn more about inherited aneurysms.

Congenital heart defects are present at birth. Adults born with congenital heart defects may require lifelong cardiovascular management of their defect — even if the defect was repaired surgically during childhood. Some congenital heart defects are caused by gene mutations and, therefore, may present a risk to other relatives including children. Genetic testing is available for some congenital heart defects. Working with our team, we can diagnose, prevent or treat these conditions.

A family history of sudden death raises suspicion for an inherited form of cardiovascular disease. We work closely with families and review their medical records in order to understand potential causes of sudden death. Our team can provide a risk assessment and walk you through genetic testing options. We can also work with the local medical examiners to determine if postmortem genetic testing is possible.