Circulation Journal
Online ISSN : 1347-4820
Print ISSN : 1346-9843
ISSN-L : 1346-9843
Clinical Investigation
Gene Mutations in Adult Japanese Patients With Dilated Cardiomyopathy
Masami ShimizuHidekazu InoToshihiko YasudaNoboru FujinoKatsuharu UchiyamaTomohito MabuchiTetsuo KonnoTomoya KanedaTakashi FujitaEiichi MasutaMasahiro KatohAkira FunadaHiroshi Mabuchi
Author information
JOURNAL FREE ACCESS

2005 Volume 69 Issue 2 Pages 150-153

Details
Abstract

Background Some patients with dilated cardiomyopathy (DCM) have mutations of the genes that encode sarcomeric or cytoskeletal proteins of cardiomyocytes, but the prevalence of these mutations in Japan remains unclear. Methods and Results A group of 99 unrelated adult patients with DCM (familial n=27, sporadic n=72) were screened for the following genes: cardiac β-myosin heavy chain, cardiac myosin-binding protein C (MYBPC3), regulatory and essential myosin light chains, α cardiac actin, α tropomyosin, cardiac troponin T, cardiac troponin I, cardiac troponin C, dystrophin, and lamin A/C. A mutation (R820Q) in MYBPC3 was found in an aged patient. In addition, dystrophin mutations were identified in 3 male patients (2 with exon 45-48 deletion and 1 with exon 48-52 deletion). The prevalence of dystrophin mutations in male patients with DCM was 4.4% (3 of 68). No mutations involving amino acid changes were identified in the other genes. Conclusions Although cases of adult patients with DCM caused by mutations of the genes encoding sarcomeric or cytoskeletal proteins of cardiomyocytes are infrequent in Japan, it may be advisable to screen older DCM patients for MYBPC3 mutations, and male patients with familial DCM for dystrophin mutations. (Circ J 2005; 69: 150 - 153)

Content from these authors
© 2005 THE JAPANESE CIRCULATION SOCIETY
Previous article Next article
feedback
Top