Hostname: page-component-586b7cd67f-r5fsc Total loading time: 0 Render date: 2024-12-01T01:12:48.698Z Has data issue: false hasContentIssue false
  • English
  • Français

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]
Get access Rights & Permissions [Opens in a new window]

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 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Hsu, DT, Pearson, GD. Heart failure in children. Circ: Heart Fail 2008; 2: 480–488.Google Scholar
Nandi, D, Rossano, JW. Epidemiology and cost of heart failure in children. Cardiol Young 2015; 25: 1460–1468.10.1017/S1047951115002280CrossRefGoogle ScholarPubMed
Rossano, JW, Shaddy, RE. Heart failure in children: etiology and treatment. J Pediatr 2014; 165: 228–233.10.1016/j.jpeds.2014.04.055CrossRefGoogle ScholarPubMed
Foerster, SR, Canter, CE, Cinar, A, et al. Ventricular remodeling and survival are more favorable for myocarditis than for idiopathic dilated cardiomyopathy in childhood an outcomes study from the Pediatric Cardiomyopathy Registry. Circ: Heart Fail 2010; 3: 688–687.Google ScholarPubMed
Canter, CE, Simpson, KE. Diagnosis and treatment of myocarditis in children in the current era. Circulation 2014; 128: 115–128.10.1161/CIRCULATIONAHA.113.001372CrossRefGoogle Scholar
Caforio, AL, Pankuwiet, S, Arbustini, E, et al. Current state of knowledge on aetiology, diagnosis, management, and therapy of myocarditis: a position statement from the Heart Failure Association of the European Society of Cardiology Working Group on myocardial and pericardial diseases. Euro J Heart Fail 2013; 34: 2636–2648.10.1093/eurheartj/eht210CrossRefGoogle Scholar
Belkaya, S, Kontorovich, AR, Byun, M, et al. Autosomal recessive cardiomyopathy presenting as acute myocarditis. J Am Coll Card 2017; 68: 1653–1665.10.1016/j.jacc.2017.01.043CrossRefGoogle Scholar
Ponikowski, P, Voors, AA, Anker, SD, et al. 2016 ESC guidelines for the diagnosis and treatment of acute and chronic heart failure: the task force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC) developed with the special contribution of the Heart Failure Association (HFA) of the ESC. Euro J Heart Fail 2016; 27: 2128–2200.Google Scholar
Richards, S, Aziz, N, Bale, S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405–424.10.1038/gim.2015.30CrossRefGoogle ScholarPubMed
Morales, A, Hershberger, RE. The rationale and timing of molecular genetic testing for dilated cardiomyopathy. Can J Cardiol 2015; 31: 1309–1312.10.1016/j.cjca.2015.06.034CrossRefGoogle ScholarPubMed
Ellepola, CD, Knight, LM, Fischbach, P, et al. Genetic testing in pediatric cardiomyopathy. Pediatr Cardiol 2018; 39: 491.10.1007/s00246-017-1779-2CrossRefGoogle ScholarPubMed
Rusconi, P, Wilkinson, JD, Sleeper, LA, et al. Outcomes in children with familial dilated cardiomyopathy compared to children with idiopathic dilated cardiomyopathy (abstract). Circulation 2010; 122: A16092.Google Scholar
Hershberger, RE, Siegfried, JD. Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Card 2011; 57: 1641–1648.10.1016/j.jacc.2011.01.015CrossRefGoogle ScholarPubMed
Wilkinson, JD, Westphal, JA, Bansal, N, et al. Lessons learned from the pediatric cardiomyopathy registry (PCMR) study group. Cardiol Young 2015; 25: 140–153.10.1017/S1047951115000943CrossRefGoogle ScholarPubMed