Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 507-510 |
| Number of pages | 4 |
| Journal | International Heart Journal |
| Volume | 57 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - 01-01-2016 |
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All Science Journal Classification (ASJC) codes
- Cardiology and Cardiovascular Medicine
Cite this
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Hypertrophic cardiomyopathy accompanied by spinocerebellar atrophy with a novel mutation in troponin i gene. / Kawai, Hideki; Morimoto, Shin Ichiro; Takakuwa, Yoko; Ueda, Akihiro; Inada, Ken Ichi; Sarai, Masayoshi; Arimura, Takuro; Mutoh, Tatsuro; Kimura, Akinori; Ozaki, Yukio.
In: International Heart Journal, Vol. 57, No. 4, 01.01.2016, p. 507-510.Research output: Contribution to journal › Article
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
PY - 2016/1/1
Y1 - 2016/1/1
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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UR - http://www.scopus.com/inward/citedby.url?scp=84979625982&partnerID=8YFLogxK
U2 - 10.1536/ihj.15-444
DO - 10.1536/ihj.15-444
M3 - Article
VL - 57
SP - 507
EP - 510
JO - International Heart Journal
JF - International Heart Journal
SN - 1349-2365
IS - 4
ER -