Ask a Texas Heart Institute Doctor
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Question:
With a family history of sudden cardiac death, what precautions should other family members take? My friend is a marathon runner, his family has a history of sudden cardiac death. His brother died in his early 50s, his prior cardio workup (including exercise stress test) was unremarkable. My friend's GP & cardiologist have not found anything of concern. I am wondering if a second opinion is warranted with a physician who specilizes in this matter. I am a nurse practitioner and I try to keep up on the literature; some of my concerns include: long QT syndrome, hypertrophic cardiomyopathy, and an LDL count (actual # rather than density reading). Also, should we consider genetic testing in such cases? I appreciate your time and advice.
submitted by Ivan, from Houston, Texas, 1/23/09
Answer:
by Texas Heart Institute cardiologist, Christopher Frank, MD 
The presence of a family history of sudden death, particularly if the exact cause was not identified, can be a major source of concern for immediate family members. The most important tests, beyond physical examination and a history of alarm symptoms, are an electrocardiogram (EKG) and echocardiogram (echo); however, it is important that they be reviewed by a physician who is giving specific attention to causes of sudden death, since there are a variety of subtle abnormalities that could be overlooked if the interpreting doctor is not familiar with some of the rarer causes. Patients who die suddenly after the age of approximately 35 are quite likely to have had coronary artery disease as the underlying cause, but there are a variety of more unusual causes (hypertrophic cardiomyopathy, long QT syndrome, Brugada syndrome, and many others) seen in younger patients.
Genetic testing of asymptomatic people is probably not warranted unless a specific disorder was identified in the patient who experienced sudden death or there is an abnomality on the EKG or echocardiogram. On the other hand, patients who have had sudden cardiac arrest and survived should be carefully evaluated for a cause in order to know what their family should be screened for. Finally, the topic of screening for coronary artery disease in patients with a family history is extremely complex; at present, the most sensitive noninvasive test (that is, the least likely to miss something) is probably a coronary calcium score with or without coronary CT angiography - but this test lacks specificity, meaning that it is abnormal in many people who are not at high risk.
Of course, patients with a family history of sudden death that might have been due to coronary disease should be particularly careful to have high blood pressure, high cholesterol, and high blood sugar treated aggressively whether they have screening tests for the heart or not, and should certainly not smoke. Unfortunately, the majority of American patients who die suddenly have no identifiable symptoms leading up to their events, and many have had completely normal cardiac stress tests.
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Updated January 2009
