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Updated: Aug 1, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Clinical and Genetic Screening for Hypertrophic Cardiomyopathy in Paediatric Relatives: Changing Paradigms in

Claire M Lawley1,2, Juan Pablo Kaski1,3

  • 1Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London WC1N 3JH, UK.

Journal of Clinical Medicine
|April 28, 2023
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) in children requires early genetic screening. Recognizing familial disease in young children is crucial for timely intervention and management.

Area of Science:

  • Pediatric Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a significant cause of illness and death in children.
  • Most pediatric HCM cases stem from genetic variants in cardiac sarcomere genes, inherited in an autosomal dominant pattern.
  • Recent understanding highlights that HCM can manifest early in childhood, even in the pediatric age group, and may not be benign.

Purpose of the Study:

  • To review current evidence on clinical and genetic screening for hypertrophic cardiomyopathy in pediatric relatives.
  • To emphasize the evolving role of genetic testing and clinical screening in families with a history of HCM.
  • To identify unresolved aspects in the management and screening of pediatric HCM.

Main Methods:

  • Literature review of current evidence.
  • Analysis of clinical and genetic screening strategies for hypertrophic cardiomyopathy.
  • Focus on familial disease in the pediatric population.

Main Results:

  • Phenotypic expression of HCM can occur in young children.
  • Familial hypertrophic cardiomyopathy in children may present with significant morbidity.
  • Genomics plays a key role in the multidisciplinary care of affected children and families.

Conclusions:

  • Clinical and genetic screening are vital for early detection of hypertrophic cardiomyopathy in pediatric relatives.
  • A paradigm shift recognizes the importance of screening young children with a family history of HCM.
  • Further research is needed to address remaining challenges in pediatric HCM management and screening.

Keywords:
geneticshypertrophic cardiomyopathypaediatricsprecision medicinescreeningsudden death

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