肥大型心筋症の表現型にわたる遺伝子検査

Hypertrophic cardiomyopathy (HCM) is a genetic disease with variable penetrance and expressivity. Even in first-degree family members with the same pathogenic sarcomere gene mutation, there can be a wide array of clinical presentations, ranging from asymptomatic to sudden cardiac death. In this case series, we report 3 father-son pairs who have identical gene mutations but vastly different phenotypes and clinical presentations. Our findings highlight the importance of gene testing in identifying patients with HCM and subsequent risk stratification. These cases highlight the limitations of a classical monogenic HCM model and suggest that a more inclusive endophenotypic model may be more appropriate.