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Genetic Determinants and Genotype-Phenotype Correlations in Vietnamese Patients With Dilated Cardiomyopathy

Thuy Vy Nguyen1, Minh Thu Tran Vu2, Thi Nam Phuong Do3

  • 1Department of Genetics, Faculty of Biology and Biotechnology, University of Science, VNUHCM [Vietnam National University, Ho Chi Minh City].

Circulation Journal : Official Journal of the Japanese Circulation Society
|May 20, 2021
PubMed

Insights

This study reveals the genetic landscape of dilated cardiomyopathy (DCM) in Vietnamese patients, identifying common gene variants and their clinical impact. Understanding these genetic factors is crucial for improving DCM diagnosis and management.

Area of Science:

  • Cardiology
  • Genetics
  • Genomics

Background:

  • Dilated cardiomyopathy (DCM) is a significant cause of heart failure and a leading indication for cardiac transplantation.
  • Genetic factors play a crucial role in the etiology and progression of DCM.

Purpose of the Study:

  • To determine the prevalence of DCM-associated genes in Vietnamese patients.
  • To evaluate the genotype-phenotype correlation in this population.

Main Methods:

  • Analyzed 58 genes in a cohort of 230 Vietnamese patients with DCM.
  • Classified patients into familial (10.9%) and sporadic (82.2%) DCM groups.
  • Assessed diagnostic yield and correlated genetic findings with clinical characteristics.

Main Results:

  • The overall diagnostic yield was 23.5%, higher in familial (44.0%) versus sporadic DCM (19.6%).
  • TTN truncating variants (TTNtv) were the most prevalent genetic cause (46.4%).
  • Genotype-positive patients, especially those with TTNtv, were younger, had distinct clinical features, and experienced adverse outcomes earlier than genotype-negative patients.

Conclusions:

  • This study provides a comprehensive genetic profile of DCM in Vietnamese patients.
  • Findings highlight the importance of genetic testing for DCM diagnosis and risk stratification.
  • Management of environmental factors may also be beneficial for DCM patients.
Abstract

Keywords:
Dilated cardiomyopathyGenetic mutationsNext-generation sequencingPhenotypeVietnamese

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