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Am I at risk for heart disease?

Hereditary heart conditions

How will Genetic Counseling help me?

 

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Information provided by the Cardiovascular Program of Ferre Institute, Inc -
a community based-community supported program.

Hereditary Heart Conditions

The following provides a summary of some of the cardiovascular conditions for which genetic testing is available. These conditions are inherited in an autosomal dominant manner. This means that a person affected by the condition (who carries a gene mutation), has a 50% chance of passing on the condition to their children, regardless of gender. Sometimes an individual is the first person in a family to have the mutation, but their future offspring are at risk. If you are concerned about your risks for one of these conditions, please contact us if you are in the upstate New York area, or talk with your local physician.

Familial Hypercholesterolemia

Familial hypercholesterolemia is a hereditary condition in which individuals have very elevated LDL levels, sometimes since birth. These individuals are therefore at increased risk for very early-onset heart attacks/coronary artery disease. A gene called LDLR (low density lipoprotein receptor) is known to cause familial hypercholesterolemia when mutated. Individuals with one or two mutated copies of the LDLR gene are at high risk for coronary heart disease (those with two are at extremely high risk).

Long QT

Long QT syndrome affects the rhythm of the heart. Individuals with Long QT are usually otherwise healthy, but an electrical disturbance to the heart's rhythm can cause shortness of breath, fainting, or more seriously sudden death. Symptoms can be present at all ages. Long QT has even been linked to a portion of cases of sudden infant death syndrome (SIDS). The name “Long QT” comes from the waves of an electrocardiogram (ECG or EKG). The different points on the wave of the EKG are labeled with letters, two of which are Q and T. Individuals with Long QT have a particularly long interval between the Q and T locations on the EKG. There are six genes linked to Long QT, and clinical testing for five of them is available.

Brugada Syndrome

Brugada syndrome is another hereditary condition affecting the heart rhythm, very much like Long QT. The bottom chambers of the heart, called the ventricles, beat too fast. Again, symptoms include fainting and sudden death within minutes without immediate treatment. Like Long QT, it can affect individuals of all ages, but usually in one's 30s. Mutation analysis of the SCN5A gene known to cause Brugada syndrome is available.

Cardiomyopathies

The cardiomyopathies are diseases of the heart muscle, causing the heart to not be able to pump blood properly. Genetic testing for several types of cardiomyopathies are available.

Arrhythmogenic Right Ventricular Dysplasia (ARVD)

ARVD is a type of cardiomyopathy in which the muscle tissue of the right ventricle of the heart (a chamber of the heart) is replaced by fat, which affects the heart rhythm. One study found that 25% of those affected have a mutation in a gene called PKP2. There are other genes linked to ARVD, but clinical testing is only available for PKP2.

Congenital Heart Disease (CHD)

There are many genetic conditions/syndromes associated with congenital heart disease (heart disease present since birth, such as a hole in the heart). A thorough family history review and perhaps an evaluation by a medical geneticist may be necessary to elucidate whether a known gene is the cause of the congenital heart disease in the individual. Genetic counselors can help individuals understand how the congenital heart defect in their family may be inherited.

References:

Brugada Syndrome: Official Site of the Ramon Brugada Senior Foundation: www.brugada.org

GeneReviews: www.genetests.com

MacLeod, H. Genetic testing for cardiovascular disease. Perspectives in Genetic Counseling Spring 2006; 28:1: 6.

What about conditions like heart attacks, diabetes, stroke, or high blood pressure?

Many of the above conditions are quite common in the population. Is also quite common for an individual to be concerned for their own health when family members are affected. While we do not yet know of a single gene causing heart attacks, diabetes, strokes, or high blood pressure, we do know that genetic factors are involved. Certainly these conditions can run in families, but some family members will be affected while others will not. It is believed that there are susceptibility genes involved, meaning that someone with a gene change that makes them susceptible to heart disease who is in the right "environment" (whether it be lifestyle-related or other health factors) can develop the condition. this is called multifactorial inheritance, meaning that both genetic and environmental facors play a role in the development of disease.

For More Information

Congenital Heart Information Network
www.tchin.org

American Heart Association
www.americanheart.org

National Society of Genetic Counselors
www.nsgc.org

You can contact us.

We welcome comments, general questions or inquiries in regards to scheduling an appointment.

Text for this site provided by Erin Houghton, MS, CGC
Genetic Counselor, Ferre Institute, Inc


2008 Ferre Institute Inc. All rights reserved. Use of this site constitutes acceptance of Ferre Insitute's privacy policy. The information provided on this site is designed to support, not replace, the relationship that exists between a patient/site visitor and his/her existing physician. Last Modified: January 28, 2010