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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Genetic basis of hypertrophic cardiomyopathy in children

Stefan Rupp1, Moataz Felimban2, Anne Schänzer3

  • 1Pediatric Heart Center, Justus-Liebig University, Feulgenstrasse 12, 35385, Giessen, Germany. Stefan.rupp@paediat.med.uni-giessen.de.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society
|August 15, 2018
PubMed

Insights

Next-generation sequencing and multidisciplinary collaboration significantly increase genetic diagnosis rates in pediatric hypertrophic cardiomyopathy (HCM), reaching nearly 80% of cases.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Genetic mutations are identified in 50-60% of pediatric hypertrophic cardiomyopathy (HCM) cases.
  • Further diagnostic approaches are needed to improve genetic identification rates.

Purpose of the Study:

  • To determine if next-generation sequencing (NGS) and multidisciplinary case discussions can increase the genetic diagnosis rate in pediatric HCM.
  • To evaluate the diagnostic yield of advanced genetic testing and collaborative analysis.

Main Methods:

  • Retrospective analysis of 42 pediatric HCM patients treated between 2000 and 2016.
  • Genetic analysis using next-generation sequencing (28 genes) in 36 patients.
  • Discussion of unsolved cases in an interdisciplinary board.

Main Results:

  • A genetic defect was detected in 78% (29/36) of patients.
  • Pathogenic variants were found in sarcomere protein genes (42%), RAS/MAPK pathway genes (14%), GAA gene (Pompe disease, 11%), and Frataxin repeat expansions (Friedreich's ataxia, 8%).
  • Interdisciplinary board discussions identified the genetic cause in an additional 25% (9/36) of previously unsolved cases.

Conclusions:

  • A definitive genetic diagnosis is achievable in nearly 80% of pediatric HCM cases.
  • NGS combined with multidisciplinary cooperation substantially enhances diagnostic yield.
  • Improved genetic diagnosis aids risk stratification, treatment planning, and genetic counseling.
Abstract

Keywords:
ChildrenHypertrophic cardiomyopathyNext-generation sequencing

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