TY - JOUR
T1 - Hypertrophic cardiomyopathy accompanied by spinocerebellar atrophy with a novel mutation in troponin i gene
AU - Kawai, Hideki
AU - Morimoto, Shin Ichiro
AU - Takakuwa, Yoko
AU - Ueda, Akihiro
AU - Inada, Ken Ichi
AU - Sarai, Masayoshi
AU - Arimura, Takuro
AU - Mutoh, Tatsuro
AU - Kimura, Akinori
AU - Ozaki, Yukio
N1 - Publisher Copyright:
© 2016 International Heart Journal Association. All rights reserved.
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
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U2 - 10.1536/ihj.15-444
DO - 10.1536/ihj.15-444
M3 - Article
C2 - 27385602
AN - SCOPUS:84979625982
VL - 57
SP - 507
EP - 510
JO - International Heart Journal
JF - International Heart Journal
SN - 1349-2365
IS - 4
ER -