Hypertrophic cardiomyopathy accompanied by spinocerebellar atrophy with a novel mutation in troponin i gene

Hideki Kawai, Shin Ichiro Morimoto, Yoko Takakuwa, Akihiro Ueda, Ken Ichi Inada, Masayoshi Sarai, Takuro Arimura, Tatsuro Mutoh, Akinori Kimura, Yukio Ozaki

研究成果: Article

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We report the case of a 66 year-old woman with chronic atrial fibrillation, hypertrophic cardiomyopathy (HCM), and spinocerebellar atrophy (SCA). Her mother and first-born son had died of heart disease at the ages of 65 and 16 years, respectively. Four of her 8 siblings had died suddenly of unknown cause or of heart disease, and 2 others of cerebral infarction by the 7th decade. Genetic testing revealed that she had a novel mutation (c. 482C > A, p. Ala161Asp) in the troponin I gene (TNNI3), and no abnormality of the GAA repeat in the frataxin gene. Her older brother with SCA but without HCM was also analyzed, with no abnormality noted in either gene. The Ala161Asp mutation in TNNI3 was implicated in the pathogenesis of her HCM, though an association between HCM and SCA was not revealed.

元の言語English
ページ(範囲)507-510
ページ数4
ジャーナルInternational heart journal
57
発行部数4
DOI
出版物ステータスPublished - 01-01-2016

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine

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