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Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy

N Fujino1, M Shimizu, H Ino

  • 1The Second Department of Internal Medicine, School of Medicine, Kanazawa University, Japan.

Clinical Cardiology
|May 11, 2001
PubMed

Insights

Mutations in the cardiac troponin T gene can cause familial hypertrophic cardiomyopathy (HCM) with mild hypertrophy but poor prognosis. This study found the Arg92Trp mutation leads to diverse cardiac changes, including dilated cardiomyopathy.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Cardiology

Background:

  • Familial hypertrophic cardiomyopathy (HCM) linked to cardiac troponin T gene mutations often presents with a poor prognosis despite mild hypertrophy.
  • Serial morphologic changes in HCM patients with cardiac troponin T gene mutations have not been well-documented.

Purpose of the Study:

  • To investigate the long-term clinical and morphological course of patients with familial HCM caused by the cardiac troponin T gene mutation Arg92Trp.
  • To characterize the spectrum of cardiac phenotypes associated with the Arg92Trp mutation.

Main Methods:

  • Screening of 140 probands with familial HCM for mutations in the cardiac troponin T gene.
  • Clinical and echocardiographic assessment of individuals carrying the Arg92Trp mutation.
  • Histopathological analysis of endomyocardial biopsies from affected individuals.

Main Results:

  • The Arg92Trp mutation was identified in 10 individuals from two pedigrees, exhibiting varied cardiac morphologies including dilated cardiomyopathy-like features, asymmetric septal hypertrophy, and electrocardiographic abnormalities.
  • Three patients with dilated cardiomyopathy-like features showed progressive left ventricular dilation.
  • Myocardial biopsies revealed modest hypertrophy, minimal disarray, and mild fibrosis.

Conclusions:

  • The Arg92Trp substitution in the cardiac troponin T gene demonstrates high penetrance, moderate hypertrophy, and a propensity for early progression to dilated cardiomyopathy in Japanese patients.
  • Early identification of individuals with this mutation is crucial for assessing the potential efficacy of early therapeutic interventions.
Abstract

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