Phenocopies of sarcomere gene mediated hypertrophic cardiomyopathy in children

Emily Brown, Anne M. Murphy

Research output: Contribution to journalReview articlepeer-review


Background: This article summarizes the non-sarcomere genes that result in hypertrophic cardiomyopathy that may present in childhood. Aim of review: While some of these forms of hypertrophic cardiomyopathy are quite rare, they are important to recognize and consider when providing genetic testing for early onset hypertrophic cardiomyopathy disease. Notably, some of these conditions have specific treatments. Key scientific concepts of review: This review will allow pediatric cardiomyopathy specialists to consider a broad range of genetic mutations that lead to pediatric onset hypertrophic cardiomyopathy.

Original languageEnglish (US)
Article number101419
JournalProgress in Pediatric Cardiology
StatePublished - Sep 2021


  • AMP-activated protein kinase
  • Danon disease
  • Fabry disease
  • Noonan syndrome
  • Pediatric cardiomyopathy
  • Pompe disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Cardiology and Cardiovascular Medicine


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