Hypertrophic cardiomyopathy: Two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy

Luisa Nanni, Maurizio Pieroni, Cristina Chimenti, Barbara Simionati, Rosanna Zimbello, Attilio Maseri, Andrea Frustaci, Gerolamo Lanfranchi

Research output: Contribution to journalArticlepeer-review

Abstract

About 10% of cases of hypertrophic cardiomyopathy (HCM) evolve into dilated cardiomyopathy (DCM) with unknown causes. We studied 11 unrelated patients (pts) with HCM who progressed to DCM (group A) and 11 who showed "typical" HCM (group B). Mutational analysis of the β-myosin heavy chain (MYH7), myosin-binding protein C (MYBPC3), and cardiac troponin T (TNNT2) genes demonstrated eight mutations affecting MYH7 or MYBPC3 gene, five of which were new mutations. In group A-pts, the first new mutation occurred in the myosin head-rod junction and the second occurred in the light chain-binding site. The third new mutation leads to a MYBPC3 lacking titin and myosin binding sites. In group B, two pts with severe HCM carried two homozygous MYBPC3 mutations and one with moderate hypertrophy was a compound heterozygous for MYBPC3 gene. We identified five unreported mutations, potentially "malignant" defects as for the associated phenotypes, but no specific mutations of HCM/DCM.

Original languageEnglish
Pages (from-to)391-398
Number of pages8
JournalBiochemical and Biophysical Research Communications
Volume309
Issue number2
DOIs
Publication statusPublished - Sep 19 2003

Keywords

  • Compound heterozygous
  • Dilated cardiomyopathy
  • Homozygous mutation
  • Hypertrophic cardiomyopathy
  • Mutation detection
  • Myosin heavy chain 7
  • Myosin-binding protein C
  • Troponin T2

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

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