Why the study?
Does the type of TNNT2 genetic mutation predict prognosis and phenotype in Japanese patients with familial hypertrophic cardiomyopathy?
Population
173 unrelated Japanese patients with familial hypertrophic cardiomyopathy (HCM)
Design
Cohort
Key result
Screening of 173 Japanese patients with familial hypertrophic cardiomyopathy identified TNNT2 mutations in 11 individuals from 4 families, revealing highly variable clinical phenotypes but a consistent risk of sudden cardiac death in youth.
Authors
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Supports lifelong SCD monitoring in TNNT2 carriers with familial HCM; leaves open whether specific mutations refine phenotype or prognosis.
Observational (n=173)
Does the type of TNNT2 genetic mutation predict prognosis and phenotype in Japanese patients with familial hypertrophic cardiomyopathy?
TNNT2 mutations in Japanese patients with familial HCM are associated with variable clinical phenotypes but carry a consistent risk of sudden cardiac death in youth, necessitating careful lifelong observation.
Fujita et al. (2013) conducted an observational in Familial hypertrophic cardiomyopathy (n=173). TNNT2 gene mutations was evaluated on Identification of TNNT2 mutations and genotype-phenotype correlation. Screening of 173 Japanese patients with familial hypertrophic cardiomyopathy identified TNNT2 mutations in 11 individuals from 4 families, revealing highly variable clinical phenotypes but a consistent risk of sudden cardiac death in youth.