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Updated: May 7, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Genetics of hypertrophic cardiomyopathy in Norway

K E Berge1, T P Leren

  • 1Department of Medical Genetics, Oslo University Hospital Ullevaal, Oslo, Norway.

Clinical Genetics
|October 12, 2013
PubMed

Insights

Genetic testing for hypertrophic cardiomyopathy (HCM) identified mutations in 29.2% of adult probands and 15.4% of infants. Over 40% of identified mutations were novel, advancing HCM genetic diagnostics.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Diagnostics

Background:

  • Hypertrophic cardiomyopathy (HCM) is a primary genetic heart muscle disease.
  • Genetic testing is crucial for diagnosing HCM and identifying at-risk relatives.
  • The availability of genetic testing in Norway since 2003 enabled comprehensive analysis.

Purpose of the Study:

  • To report the outcomes of genetic testing for hypertrophic cardiomyopathy (HCM) in Norwegian probands.
  • To characterize the spectrum of mutations identified in HCM patients.
  • To evaluate the frequency of single and double mutations in HCM.

Main Methods:

  • Analysis of translated exons in key HCM-associated genes (MYBPC3, MYH7, TNNI3, TNNT2, MYL2, MYL3).
  • Two proband groups were studied: 696 patients >1 year and 26 infants <1 year.
  • Mutation detection rates and characteristics were assessed.

Main Results:

  • A mutation was identified in 29.2% of adult probands (Group 1) and 15.4% of infants (Group 2).
  • 5.9% of mutation-positive adult probands carried two distinct mutations.
  • 120 different mutations were found, with 51 (42.5%) being novel.

Conclusions:

  • Genetic testing reveals a significant mutation detection rate in hypertrophic cardiomyopathy (HCM) probands.
  • The identification of numerous novel mutations underscores the genetic heterogeneity of HCM.
  • These findings contribute to improved genetic diagnostics and understanding of HCM.

Keywords:
DNA sequencinggeneshypertrophic cardiomyopathymutationssarcomers

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