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.
Recommended Hypertrophic Cardiomyopathy Screening Intervals
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Age Group
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Recommendation
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|---|
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<12 years
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Screening optional except in the following situations: (1) presence of symptoms; (2) family history of malignant ventricular tachyarrhythmias; (3) patient is competitive athlete in an intense training program; or (4) presence of other clinical suspicion of early left ventricular hypertrophy
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12 to 18-21 years
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Every 12 to 18 months
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>18-21 years
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At symptom onset or at least every 5 years (more frequently in families with malignant tachyarrhythmias or late onset)
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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.