Population
112 unrelated Japanese proband patients with familial hypertrophic cardiomyopathy (HCM)
Design
Cross-sectional
Key result
Genetic screening of 8 sarcomeric genes in 112 Japanese patients with familial hypertrophic cardiomyopathy identified disease-associated mutations in 43.8% of patients, most frequently in MYBPC3.
Authors
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May inform genetic testing in Japanese familial HCM; extends sarcomeric mutation prevalence data to Asian cohorts with founder effects noted.
Observational (n=112)
Yes
In Japanese patients with familial HCM, mutations in sarcomeric genes were found in 43.8% of probands, with MYBPC3 and MYH7 being the most common and showing regional distribution differences.
Otsuka et al. (2011) conducted an observational in Familial Hypertrophic Cardiomyopathy (n=112). Genetic screening of 8 sarcomeric genes was evaluated on Prevalence of sarcomeric gene mutations. Genetic screening of 8 sarcomeric genes in 112 Japanese patients with familial hypertrophic cardiomyopathy identified disease-associated mutations in 43.8% of patients, most frequently in MYBPC3.