Heterogeneity of clinical manifestation of hypertrophic cardiomyopathy caused by deletion of lysine 183 in cardiac troponin I gene: Insight from two autopsy cases with an identical sarcomeric gene mutation

フォーマット:

論文

責任表示:

Funada, Akira ; Masuta, Eiichi ; Fujino, Noboru ; Hayashi, Kenshi ; Ino, Hidekazu ; Kita, Yoshihito ; Ikeda, Hiroko ; Fujii, Takahiko ; Nakanuma, Yasuni ; Yamagishi, Masakazu

言語:

英語

出版情報:

International Heart Journal Association, 2010-01-01

著者名:

Funada, Akira

Masuta, Eiichi

Fujino, Noboru

Hayashi, Kenshi

Ino, Hidekazu

Kita, Yoshihito

Ikeda, Hiroko

Fujii, Takahiko

Nakanuma, Yasuni

Yamagishi, Masakazu

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掲載情報:

International Heart Journal

ISSN:

1349-2365      

巻:

51

通号:

3

開始ページ:

214

終了ページ:

217

バージョン:

publisher

概要:

Hypertrophic cardiomyopathy (HCM) is associated with gene mutations that encode sarcomeric proteins. However, the relationship between genotype and histopathologic fndings is unclear. We report on two autopsy cases with advanced HCM associated with deletion of lysine 183 mutation in the cardiac troponin I gene. One case, a 74-year-old female exhibited dilated cardiomyopathy-like features. Transmural scarring was diffuse and circumferential, involving the … whole left ventricle, especially the ventricular septum which was replaced with extensive fbrosis and showed marked wall thinning. The other case, a 92-year-old male revealed typical HCM fndings. Patchy scars which corresponded to replacement fbrosis were found extending from the septum to the anterior wall. These two autopsy cases indicate the clinical heterogeneity of HCM even within the same disease-causing mutation and suggest that the degree and extent of fbrosis determine differences in the clinical manifestations of HCM. This is the frst autopsy report that demonstrates identical sarcomeric gene mutations causing different clinical manifestations and histologic fndings. The fndings suggest that additional genetic or environmental factors infuence the phenotypic expressions and clinical courses of HCM caused by genetic mutation of sarcomeric proteins. 続きを見る

URL:

http://hdl.handle.net/2297/31473