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Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling

Takashige Tobita1,2, Seitaro Nomura3,4, Takanori Fujita3

  • 1Department of Cardiology, Tokyo Women's Medical University, Tokyo, Japan.

Scientific Reports
|February 2, 2018
PubMed

Insights

Genetic variants in TTN and LMNA impact cardiomyopathy outcomes. TTN variants predict better prognosis and myocardial recovery in dilated cardiomyopathy (DCM) patients, unlike LMNA variants.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Epidemiology

Background:

  • Dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) exhibit significant genetic and phenotypic heterogeneity.
  • Predictors of long-term outcomes and myocardial recovery in cardiomyopathy patients remain incompletely understood.
  • Understanding the genetic landscape of cardiomyopathy in Japan is crucial for personalized treatment strategies.

Purpose of the Study:

  • To investigate the genetic basis of DCM and HCM in a Japanese cohort.
  • To identify genetic predictors of prognosis and left ventricular reverse remodeling (LVRR) in DCM patients.
  • To compare genotype-phenotype correlations with findings in Caucasian populations.

Main Methods:

  • Targeted sequencing was performed on 120 DCM and 52 HCM patients.
  • Genotypes were integrated with clinical phenotypes, including prognosis and LVRR.
  • Variant frequencies and clinical outcomes were analyzed for DCM and HCM cohorts.

Main Results:

  • TTN truncating variants were a major cause of sporadic DCM (21.4%), while LMNA variants (including a novel recurrent variant) were most frequent in familial DCM (24.0%).
  • MYH7 and MYBPC3 variants were most common in HCM patients (23.1% and 21.2%, respectively).
  • DCM patients with TTN variants showed better prognosis and higher rates of LVRR compared to those with LMNA variants.

Conclusions:

  • TTN truncating variants are significant genetic drivers of DCM in Japan, associated with favorable outcomes.
  • LMNA variants, particularly in familial DCM, present a different prognostic profile.
  • Genetic profiling offers insights into predicting treatment response and myocardial recovery in cardiomyopathy.

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