The Center for Cardiovascular Genetics Offers Diagnosis and Counseling for Genetic Heart Conditions

The Center for Cardiovascular Genetics at University Hospitals Harrington Heart & Vascular Institute specializes in evaluation, treatment, diagnosis and genetic counseling for individuals of all ages and their family members. The goal of the Center for Cardiovascular Genetics is to identify and treat patients with inherited cardiac conditions, those at risk of developing an inherited cardiac condition, and those who are at risk for sudden cardiac death.

Inherited Heart Conditions

Although many cardiac conditions result from diet, smoking, lack of exercise, high cholesterol, or other medical conditions such as diabetes, some cardiac conditions are the result of a genetic abnormality. These genetic abnormalities can result in problems with the heart’s muscle function (cardiomyopathy) or problems with the heart’s electrical system, which may put patients at risk for sudden cardiac death.

A genetic abnormality can be inherited and passed down through families. Family members with the same genetic abnormality may present with a variable degree of symptoms. Some patients may have no symptoms and others will have significant symptoms.

Inherited cardiac conditions which may put patients at risk for sudden cardiac death or arrest (SCD/A) include:

• Long QT syndrome
• Brugada syndrome
• Arrhythmogenic right ventricular dysplasia or cardiomyopathy (ARVD/C)
• Catecholaminergic polymorphic ventricular tachycardia (CPVT)
• Familial dilated cardiomyopathy
• Hypertrophic cardiomyopathy
• Left ventricular noncompaction

Meeting with our Cardiovascular Genetics Team

Comprising physicians specializing in cardiomyopathy, congestive heart failure, cardiac electrophysiology, medical genetics and a certified genetic counselor, the Center for Cardiovascular Genetics is designed to identify patients with inherited conditions or genetically determined cardiac disease. Diagnosis of an inherited condition can be made using a combination of cardiac and genetic testing.

Consultation with a medical geneticist and certified genetic counselor may be recommended to determine if genetic testing will aid in the diagnosis, direct treatment strategy, and identify other at-risk or affected family members.

As an outpatient clinic, patients may meet and be evaluated by an electrophysiologist (a doctor specializing in heart rhythm disorders), a cardiologist specializing in cardiomyopathy, and a registered nurse.

Testing for Cardiac Conditions

Cardiac evaluation will include a thorough history and physical examination. Sometimes additional testing may be recommended in order to establish the patient’s diagnosis or risk. This may include one or more of the following:

• Electrocardiogram (ECG): A noninvasive recording of the electrical activity of your heart
• Holter monitor: A portable device that records a continuous record of the electrical activity of your heart for 24-48 hours
• Event monitor: A portable device usually issued for 12-30 days to record abnormal rhythms that occur infrequently
• Cardiac imaging: Including echocardiogram, magnetic resonance imaging (MRI) or stress testing

Genetic Testing

Once a diagnosis is made, the patient will meet with the medical geneticist and the genetic counselor to discuss whether genetic testing would benefit them or other members of their family. Genetic testing is done by providing a sample of blood that will be sent to a laboratory where the genetic material will be examined. The genetic analysis will look for abnormal changes in genetic information that are responsible for the inherited cardiac disease.

Once the genetic testing is complete, the patient will return to the Center for Cardiovascular Genetics where the genetic results will be discussed with the geneticist and the genetic counselor. They will explain what the findings mean for the patient and his or her family members. They can also help patients discuss this information with other family members.