MKSAP: 56-year-old man with a family history of hypertrophic cardiomyopathy (HCM)

Test your medicine knowledge with the MKSAP challenge, in partnership with the American College of Physicians.

A 56-year-old man is being evaluated after his 18-year-old son had a syncopal episode during a high school basketball game and was diagnosed with hypertrophic cardiomyopathy (HCM). The patient has had no symptoms, including with physical activity such as golfing or playing tennis. Medical history is unremarkable, and a review of family history is negative for other relatives with HCM, sudden cardiac death, or tachyarrhythmias. He takes no medications.

Findings of a comprehensive physical examination are unremarkable.

An electrocardiogram and echocardiogram are normal, with no evidence of HCM.

When should this patient next be screened for HCM?

A. In 6 months
B. In 1 to 2 years
C. In 5 years
D. No further screening is necessary

MKSAP Answer and Critique

The correct answer is C. In 5 years.

This patient should again be screened for hypertrophic cardiomyopathy (HCM) in 5 years. All first-degree relatives of patients with HCM should undergo screening for the disorder with a comprehensive physical examination, electrocardiogram, and echocardiogram. Because HCM can manifest at any age, lifetime screening of first-degree relatives in whom the disorder has not yet been diagnosed is indicated. The recommended HCM screening intervals, which are based on clinical suspicion, patient age, family history, and participation in competitive athletics, are shown.

These recommendations are for relatives of patients with HCM in whom genetic testing is negative, inconclusive, or not performed. Genetic testing of probands can be used to identify pathologic mutations, which can then be used to screen family members and, if negative, may obviate the need for continued imaging. The yield of genetic testing, which can be costly, varies according to the phenotypic expression and familial nature of HCM. Thus, referral to a cardiovascular specialist or a genetic counselor is recommended for clinical decision-making based on genetic testing in patients with HCM.

Key Point

  • All first-degree relatives of patients with hypertrophic cardiomyopathy should undergo screening for the disorder with a comprehensive physical examination, electrocardiogram, and echocardiogram; lifetime screening of those in whom the disorder has not yet been diagnosed is indicated.

This content is excerpted from MKSAP 17 with permission from the American College of Physicians (ACP). Use is restricted in the same manner as that defined in the MKSAP 17 Digital license agreement. This material should never be used as a substitute for clinical judgment and does not represent an official position of ACP. All content is licensed to KevinMD.com on an “AS IS” basis without any warranty of any nature. The publisher, ACP, shall not be liable for any damage or loss of any kind arising out of or resulting from use of content, regardless of whether such liability is based in tort, contract or otherwise.

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