SHINICHI NUNODA
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine
   Position   Professor (Fixed Term)
Article types Original article
Language English
Peer review Peer reviewed
Title Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy.
Journal Formal name：Journal of human genetics
Abbreviation：J Hum Genet
ISSN code：14345161/1435232X
Domestic / ForeginForegin
Publisher Springer Nature
Volume, Issue, Page 63(9),pp.989-996
Author and coauthor Hayashi Takeharu†*, Tanimoto Kousuke, Hirayama-Yamada Kayoko, Tsuda Etsuko, Ayusawa Mamoru, Nunoda Shinichi, Hosaki Akira, Kimura Akinori*
Publication date 2018/09
Summary Hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) present a high risk for sudden cardiac death in pediatric patients. The aim of this study was to identify disease-associated genetic variants in Japanese patients with pediatric HCM and RCM. We analyzed 67 cardiomyopathy-associated genes in 46 HCM and 7 RCM patients diagnosed before 16 years of age using a next-generation sequencing system. We found that 78% of HCM and 71% of RCM patients carried disease-associated genetic variants. Disease-associated genetic variants were identified in 80% of HCM patients with a family history and in 77% of HCM patients with no apparent family history (NFH). MYH7 and/or MYBPC3 variants comprised 76% of HCM-associated variants, whereas troponin complex-encoding genes comprised 75% of the RCM-associated variants. In addition, 91% of HCM patients with implantable cardioverter-defibrillators and infant cases had NFH, and the 88% of HCM patients carrying disease-associated genetic variants were males who carried MYH7 or MYBPC3 variants. Moreover, two disease-associated LAMP2, one DES and one FHOD3 variants, were identified in HCM patients. In this study, pediatric HCM and RCM patients were found to carry disease-associated genetic variants at a high rate. Most of the variants were in MYH7 or MYPBC3 for HCM and TNNT2 or TNNI3 for RCM.
DOI 10.1038/s10038-018-0479-y
PMID 29907873