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

Published online by Cambridge University Press:  14 June 2019

Emily E. Brown ,
Kristen Nelson McMilllan ,
Marc K. Halushka ,
William J. Ravekes ,
Margaret Knight ,
Jane E. Crosson ,
Daniel P. Judge  and
Anne M. Murphy
Emily E. Brown*
Affiliation:
Division of Cardiology, Department of Medicine, Center for Inherited Heart Disease, Johns Hopkins University, Baltimore, MD, USA
Kristen Nelson McMilllan
Affiliation:
Department of Pediatrics, Pediatric Cardiology, Johns Hopkins University, Baltimore, MD, USA
Marc K. Halushka
Affiliation:
Department of Pathology, Johns Hopkins University, Baltimore, MD, USA
William J. Ravekes
Affiliation:
Department of Pediatrics, Pediatric Cardiology, Johns Hopkins University, Baltimore, MD, USA
Margaret Knight
Affiliation:
Department of Pediatrics, Pediatric Cardiology, Johns Hopkins University, Baltimore, MD, USA
Jane E. Crosson
Affiliation:
Department of Pediatrics, Pediatric Cardiology, Johns Hopkins University, Baltimore, MD, USA
Daniel P. Judge
Affiliation:
Division of Cardiology, Department of Medicine, Center for Inherited Heart Disease, Johns Hopkins University, Baltimore, MD, USA Division of Cardiology, Department of Medicine, Medical University of South Carolina, Charleston, SC, USA
Anne M. Murphy
Affiliation:
Department of Pediatrics, Pediatric Cardiology, Johns Hopkins University, Baltimore, MD, USA
*
Author for correspondence: Emily E. Brown, MGC, Johns Hopkins University, 600 N. Wolfe Street, Blalock 572, Baltimore, MD 21287, USA. Tel: 410-502-2578; Fax: 443-873-5073; E-mail: [email protected]
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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.

Keywords

Myocarditisgeneticsacute heart failurefamilial cardiomyopathy
Type
Original Article
Information
Cardiology in the Young , Volume 29 , Issue 7 , July 2019 , pp. 917 - 921
Copyright
© Cambridge University Press 2019 

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