イナイ　ケイ   Inai Kei   稲井　慶    所属   医学部 医学科（東京女子医科大学病院）    職種   准教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy.
掲載誌名	正式名：Heart and vessels 略　 称：Heart Vessels ISSNコード：09108327/16152573
掲載区分	国外
出版社	Springer
巻・号・頁	32(6),pp.700-707
著者・共著者	CHIDA Ayako, INAI Kei, SATO Hiroki, SHIMADA Eriko, NISHIZAWA Tsutomu, SHIMADA Mitsuyo, FURUTANI Michiko, FURUTANI Yoshiyuki, KAWAMURA Yoichi, SUGIMOTO Masaya, ISHIHARA Jun, FUJIWARA Masako, SOGA Takashi, KAWANA Masatoshi, FUJI Shinya, TATENO Shigeru, KURAISHI Kenji, KOGAKI Shigetoyo, NISHIMURA Mitsuhiro, AYUSAWA Mamoru, ICHIDA Fukiko, YAMAZAWA Hirokuni, MATSUOKA Rumiko, NONOYAMA Shigeaki, NAKANISHI Toshio
発行年月	2017/06
概要	Although some studies have attempted to find useful prognostic factors in hypertrophic cardiomyopathy (HCM), those results are not fully helpful for use in actual clinical practice. Furthermore, several genetic abnormalities associated with HCM have been identified. However, the genotype-phenotype correlation in HCM remains to be elucidated. Here, we attempted to assess patients with different types of gene mutations causing HCM and investigate the prognosis. A total of 140 patients with HCM underwent a screening test for myofilament gene mutations by direct sequencing of eight sarcomeric genes. Patients with a single mutation in cardiac troponin T, cardiac troponin I, α-tropomyosin, and regulatory and essential light chains were excluded from the study because the number of cases was too small. The clinical presentations and outcomes of the remaining 127 patients with HCM, 31 β-myosin heavy chain (MYH7) mutation carriers, 19 cardiac myosin-binding protein C (MYBPC3) mutation carriers, and 77 mutation non-carriers were analyzed retrospectively. MYBPC3 mutation carriers had a high frequency of ventricular arrhythmia and syncope. Kaplan-Meier curves revealed no significant difference in prognosis among the three groups, but a lack of family history of sudden death (SD) and a past history of syncope were significantly related to poor prognosis. An absence of family history of SD and past history of syncope are useful prognostic factors in patients with HCM. MYH7 and MYBPC3 mutations did not significantly influence prognosis compared to non-carriers. However, patients with the MYBPC3 mutation should be closely followed for the possibility of SD.
DOI	10.1007/s00380-016-0920-0
PMID	27885498