March 2008

Genetic Testing Offers Prevention, Early Treatment for Heart Disease

Colleen Brown
Genetic Counselor
UCSF Program in Cardiovascular Genetics

To properly diagnose and treat cardiovascular disease, physicians often rely on invasive, expensive and sometimes painful procedures. Today, many genes associated with hereditary cardiovascular diseases have been identified. A blood test and genetic evaluation can identify patients who are likely to develop a familial disease and allow doctors to stop heart disease before it starts.

Marfan syndrome, familial cardiomyopathies, congenital heart defects and hereditary arrhythmias are caused by inherited genetic mutations and may be life-threatening if untreated. But many people don't know they are at risk. If your patient has a family history of cardiovascular disease, they're candidates for genetic evaluation and DNA testing. If discovered early, disease may be prevented or slowed with medication, surgery, lifestyle changes or an implanted cardiac defibrillator (ICD). Genetic testing also can relieve worry by identifying family members who are not at risk.

For patients who already have cardiovascular disease, testing may help identify the most effective treatment plan. Accurate tests and treatment can help reduce the number of related mortalities.

Cardiovascular Genetics

The UCSF Heart and Vascular Center has established the Program in Cardiovascular Genetics, one of the first programs of its kind on the West Coast. Its multidisciplinary team provides integrated cardiology and genetics evaluations and care for families with hereditary cardiovascular disease. Experts work closely with referring physicians through the evaluation process. They provide referring physicians and families with reports summarizing the outcome of a patient's evaluation.

The program specializes in the following conditions:

The program emphasizes family outreach, counseling and treating the entire family, not just the affected individual. The cardiovascular genetics team works with each patient to ensure that his or her family gets the counseling, testing and care needed.

Specialty Clinics

The program includes two specialty clinics:

  • Familial Cardiomyopathy Clinic — Offers evaluation and treatment to patients with cardiomyopathies and their families to determine the precise diagnosis and provide disease management and family outreach. The team includes specialists in genetics, cardiomyopathy and cardiovascular failure; interventional cardiologists; and electrophysiologists as well as cardiothoracic surgeons.

  • Marfan Clinic — Offers care to patients with Marfan syndrome and other genetic aortopathies and connective tissue diseases. Individuals who have, or may have Marfan syndrome, are evaluated on the same day by a team of specialists, including those in genetics, ophthalmology, cardiology and orthopedics.


To refer a patient, contact the Program in Cardiovascular Genetics at (415) 476-5354.

For more information, contact the Physician Referral Service at UCSF Medical Center:
Phone (888) 689-UCSF or (888) 689-8273

Other Resources

Primary Care Connections — March 2008