MKSAP Quiz: Familial screening for hypertrophic cardiomyopathy
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. 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 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 item is available to MKSAP 17 subscribers as item 62 in the Cardiovascular Medicine section. More information on MKSAP 17 is available online.
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.