KAWANA Masatoshi    Department   Other, Other    Position
Article types	Original article
Language	English
Peer review	Peer reviewed
Title	Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy.
Journal	Formal name：Heart and vessels Abbreviation：Heart Vessels ISSN code：09108327/16152573
Domestic / Foregin	Foregin
Publisher	Springer
Volume, Issue, Page	32(6),pp.700-707
Author and coauthor	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
Publication date	2017/06
Summary	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