Research progress in genetics of hypertrophic cardiomyopathy in children

Author: Yan-min ZHANG ¹
Author Information

1. Department of Cardiology,Affiliated Children’s Hospital of Xi’an Jiaotong University;Children’s Research Institute of Shanxi Province;Xi’an Key Laboratory of Children’s Health and Diseases Xi’an 710003,China
Publication Type:Journal Article
Keywords: hypertrophic cardiomyopathy; gene mutation; child
From: Chinese Journal of Practical Pediatrics 2019;34(05):362-367
CountryChina
Language:Chinese
Abstract: Hypertrophic cardiomyopathy(HCM)is one of the leading causes of sudden cardiac death(SCD)in children and young adults. The incidence of HCM in adults is 1/500,which is mainly coding sarcomere-associated protein gene mutations. The most common are MYH7 and MYBPC3. The incidence of HCM in children is unclear,and the etiology is more complicated. The clinical manifestations are highly heterogeneous. There are many kinds of non-sarcomere mutations,including metabolic storage diseases,RASopathies,neurodegenerative diseases and mitochondrial diseases. Up to now,more than 40 genes are associated with pediatric HCM. Multiple modes of inheritance account for HCM,among which autosomal dominant inheritance is the most common mode. Others include autosomal recessive,X-linked,and mitochondrial inheritance.