Key result
Alpha-tropomyosin gene mutations account for ~5% of familial hypertrophic cardiomyopathy in Japan, causing severe left ventricular hypertrophy that progresses to dilatation and frequent sudden death.
Population
60 Japanese patients with familial hypertrophic cardiomyopathy, specifically focusing on 3 unrelated…
Design
Cohort
Authors
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Indicates severe prognosis in Japanese familial HCM with alpha-tropomyosin mutations; extends global data but requires prospective validation.
Observational (n=60)
Alpha-tropomyosin gene mutations in Japanese patients with familial HCM are associated with a severe clinical course, including progression to LV dilatation and a high risk of sudden death.
Yamauchi‐Takihara et al. (1996) conducted an observational in Hypertrophic cardiomyopathy (n=60). Alpha-tropomyosin gene mutations was evaluated on Clinical, electrocardiographic and echocardiographic characteristics. Alpha-tropomyosin gene mutations account for ~5% of familial hypertrophic cardiomyopathy in Japan, causing severe left ventricular hypertrophy that progresses to dilatation and frequent sudden death.
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