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Updated: Sep 30, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study

Cheng Shen1,2, Lei Xu1, Xiaoning Sun3

  • 1Department of Cardiology, Zhongshan Hospital, Fudan University, Shanghai Institute of Cardiovascular Diseases, Shanghai, China.

Annals of Translational Medicine
|March 14, 2022
PubMed

Insights

Genetic variations in dilated cardiomyopathy (DCM) are common in sporadic DCM (SDCM) patients. These findings suggest genetic factors contribute to the development of SDCM.

Area of Science:

  • Cardiovascular Genetics
  • Genomics
  • Molecular Cardiology

Background:

  • Familial dilated cardiomyopathy (DCM) has known genetic links.
  • The genetic basis of sporadic DCM (SDCM) remains largely unknown.
  • This study investigates genetic variations in Chinese SDCM patients.

Purpose of the Study:

  • To identify genetic variations associated with sporadic DCM in a Chinese cohort.
  • To determine the frequency and potential pathogenicity of these variants.
  • To explore the contribution of genetic factors to SDCM pathogenesis.

Main Methods:

  • Targeted next-generation sequencing of 24 key DCM-associated genes.
  • Analysis of 66 unrelated Chinese patients diagnosed with SDCM.
  • Comparison of identified variants against population databases (1000 Genomes, NHLBI Go Exome Sequencing Project).
  • Pathogenicity evaluation using PolyPhen 2 and SIFT algorithms.

Main Results:

  • Eighty-five nonsynonymous variants were detected in 17 genes.
  • Forty-nine variants showed significantly higher frequencies in SDCM patients compared to the general population.
  • Risk variants were found in 61% of patients, with 25% carrying multiple variants.
  • MYBPC3, SCN5A, MYH7, MYPN, and LDB3 were identified as high-risk genes.

Conclusions:

  • Genetic variants potentially increasing DCM risk are prevalent in SDCM patients.
  • Genetic factors likely play a significant role in the pathogenesis and onset of SDCM.
  • This study highlights the importance of genetic screening in SDCM.
Abstract

Keywords:
Sporadic dilated cardiomyopathy (SDCM)mutationsrisky genes

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