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Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy

Christiane Gruner1, Melanie Care, Katherine Siminovitch

  • 1Division of Cardiology, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada. christiane.gruner@gmx.ch

Circulation. Cardiovascular Genetics
|April 23, 2011
PubMed

Insights

Genetic testing revealed fewer positive genotypes in apical hypertrophic cardiomyopathy (HCM) patients compared to nonapical HCM. The most common genetic variants involved MYBPC3 and MYH7, suggesting further research is needed for apical HCM.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology

Background:

  • Apical hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy localized to the cardiac apex.
  • Understanding the genetic underpinnings of apical HCM is crucial for diagnosis and treatment.

Purpose of the Study:

  • To investigate and report genetic findings in a large cohort of unrelated patients with apical HCM.
  • To compare genetic profiles of apical HCM with those of nonapical HCM.

Main Methods:

  • Genetic testing was performed on 429 patients with HCM, including 61 diagnosed with apical HCM.
  • A panel of 11 genes (8 sarcomere protein genes, GLA, PRKAG2, LAMP2) was utilized for genetic analysis.

Main Results:

  • A positive genotype was identified in only 13% of apical HCM patients, significantly lower than the 40% in nonapical HCM (P<0.001).
  • MYBPC3 and MYH7 were the most frequently implicated genes in genotype-positive apical HCM cases.
  • No significant difference in maximal wall thickness or HCM-related event frequency was observed between genotype-positive and genotype-negative apical HCM patients.

Conclusions:

  • Genetic mutations are less prevalent in apical HCM compared to nonapical HCM, primarily involving MYBPC3 and MYH7.
  • The low rate of positive genotypes in apical HCM highlights the need for genome-wide association studies and gene expression profiling.
  • The study found no significant genotype-phenotype correlation within the apical HCM cohort.
Abstract

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