J Pediatr Genet 2018; 07(04): 180-184
DOI: 10.1055/s-0038-1657763
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis

Sudheer R. Gorla
1  Division of Pediatric Cardiology, Department of Pediatrics, Jackson Memorial Hospital, University of Miami/Miller School of Medicine, Miami, Florida, United States
,
Kishore R. Raja
1  Division of Pediatric Cardiology, Department of Pediatrics, Jackson Memorial Hospital, University of Miami/Miller School of Medicine, Miami, Florida, United States
,
Ashish Garg
1  Division of Pediatric Cardiology, Department of Pediatrics, Jackson Memorial Hospital, University of Miami/Miller School of Medicine, Miami, Florida, United States
,
Deborah S. Barbouth
2  Department of Human Genetics, Dr. John T. Macdonald Foundation, University of Miami/Miller School of Medicine, Miami, Florida, United States
,
Paolo G. Rusconi
1  Division of Pediatric Cardiology, Department of Pediatrics, Jackson Memorial Hospital, University of Miami/Miller School of Medicine, Miami, Florida, United States
› Author Affiliations
Funding None.
Further Information

Publication History

01 March 2018

24 April 2018

Publication Date:
02 June 2018 (online)

Abstract

Hypertrophic cardiomyopathy (HCM) is the second most prevalent form of cardiomyopathy in children. The etiology of the HCM is heterogeneous, so is the age of onset of symptoms. The HCM associated with metabolic disorders and genetic syndromes presents early in childhood. There are very few case reports of early-onset infantile HCM secondary to the PRKAG2 gene. Here, we report a case of HCM in a neonate diagnosed prenatally and eventually diagnosed with a missense mutation in the PRKAG2 gene.

Ethical Standards

Not required.


Authors' Contributions

Dr. Gorla and Dr. Raja drafted the initial manuscript.


Dr. Garg reviewed and revised the manuscript.


Dr. Barbouth reviewed and revised the manuscript.


Dr. Rusconi critically reviewed and revised the manuscript.


All authors approved the final manuscript as submitted and agreed to be accountable for all aspects of the work.