Genetic aetiologies should be considered in paediatric cases of acute heart failure presumed to be myocarditis

Emily E. Brown, Kristen Nelson McMilllan, Marc K Halushka, William Ravekes, Margaret Knight, Jane E. Crosson, Daniel P. Judge, Anne M Murphy

Research output: Contribution to journalArticle

Abstract

There are a variety of causes of acute heart failure in children including myocarditis, genetic/metabolic conditions, and congenital heart defects. In cases with a structurally normal heart and a negative personal and family history, myocarditis is often presumed to be the cause, but we hypothesise that genetic disorders contribute to a significant portion of these cases. We reviewed our cases of children who presented with acute heart failure and underwent genetic testing from 2008 to 2017. Eighty-seven percent of these individuals were found to have either a genetic syndrome or pathogenic or likely pathogenic variant in a cardiac-related gene. None of these individuals had a personal or family history of cardiomyopathy that was suggestive of a genetic aetiology prior to presentation. All of these individuals either passed away or were listed for cardiac transplantation indicating genetic testing may provide important information regarding prognosis in addition to providing information critical to assessment of family members.

Original languageEnglish (US)
JournalCardiology in the young
DOIs
StatePublished - Jan 1 2019

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Keywords

  • acute heart failure
  • familial cardiomyopathy
  • genetics
  • Myocarditis

ASJC Scopus subject areas

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

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