Why the study?
What is the prevalence and clinical significance of multiple sarcomere gene mutations in Japanese patients with hypertrophic cardiomyopathy?
Population
93 unrelated Japanese patients with Hypertrophic Cardiomyopathy (HCM)
Design
Cross-sectional
Key result
Comprehensive genetic screening of 5 sarcomere genes in 93 Japanese patients with hypertrophic cardiomyopathy identified mutations in 28 patients, including the first report of double mutations in 2 probands.
Authors
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Double mutations may associate with severe HCM phenotypes; leaves open prevalence and screening utility in Japanese patients.
Observational (n=93)
No
What is the prevalence and clinical significance of multiple sarcomere gene mutations in Japanese patients with hypertrophic cardiomyopathy?
Double mutations in sarcomere genes occur in Japanese HCM patients and may be associated with a more severe phenotype, such as earlier onset and greater wall thickness.
Kubo et al. (2011) conducted an observational in Hypertrophic cardiomyopathy (n=93). Genetic screening of 5 sarcomere genes was evaluated on Identification of sarcomere gene mutations. Comprehensive genetic screening of 5 sarcomere genes in 93 Japanese patients with hypertrophic cardiomyopathy identified mutations in 28 patients, including the first report of double mutations in 2 probands.
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