Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy

J Card Fail. 2002 Feb;8(1):28-32. doi: 10.1054/jcaf.2002.31157.

Abstract

Background: The gene for cardiac troponin T (TNNT2) is 1 of 7 autosomal disease genes implicated in familial dilated cardiomyopathy (FDC). Identical deletions in exon 13 of TNNT2 have been reported in 2 families with FDC, but little is known about the frequency of this deletion among patients with FDC and idiopathic dilated cardiomyopathy (IDC) and the associated phenotype.

Methods and results: Exon 13 of the cardiac troponin T gene was sequenced in 61 subjects with FDC and 53 subjects with IDC. A 3-base pair deletion (DeltaLys210), identified in 1 family with at least 7 clinically affected family members, is reported. Age of disease onset and disease severity varied widely among affected individuals; phenotypic findings included dilated cardiomyopathy, sudden cardiac death, conduction system disease including atrial fibrillation and atrioventricular block, and heart failure. Sudden-onset, rapidly progressive disease was observed in younger individuals.

Conclusions: Cardiac troponin T exon 13 lysine deletions can cause FDC of varying severity and are an important but uncommon cause of FDC.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Hypertrophic, Familial / genetics
  • Exons
  • Female
  • Gene Deletion
  • Humans
  • Lysine / genetics
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Troponin T / genetics*

Substances

  • Troponin T
  • Lysine