Severe Hypertrophic Cardiomyopathy in an Infant with a Novel PRKAG2 Gene Mutation: Potential Differences Between Infantile and Adult Onset Presentation

Hypertrophic cardiomyopathy (HCM) is a heterogeneous disorder characterized by thickening of the heart and an increased incidence of sudden death. This study is aimed to determine the genetic cause of severe cardiac hypertrophy in an infant. An infant was assigned a diagnosis of ventricular preexcit...

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Bibliographic Details
Published in:Pediatric cardiology 2009-11, Vol.30 (8), p.1176-1179
Main Authors: Kelly, Brendan P., Russell, Mark W., Hennessy, James R., Ensing, Gregory J.
Format: Article
Language:English
Subjects:
AMP-Activated Protein Kinases - genetics
Cardiac Surgery
Cardiology
Cardiomyopathy, Hypertrophic - diagnosis
Cardiomyopathy, Hypertrophic - genetics
Cardiomyopathy, Hypertrophic - surgery
Case Report
Electrocardiography
Glycogen - analysis
Humans
Infant
Male
Medicine
Medicine & Public Health
Myocardium - chemistry
Myocardium - ultrastructure
Risk Factors
Vascular Surgery
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Description
Summary:Hypertrophic cardiomyopathy (HCM) is a heterogeneous disorder characterized by thickening of the heart and an increased incidence of sudden death. This study is aimed to determine the genetic cause of severe cardiac hypertrophy in an infant. An infant was assigned a diagnosis of ventricular preexcitation and severe biventricular HCM requiring septal myectomy. Genetic testing showed a novel heterozygous E506Q mutation of the adenosine monophosphate (AMP)-activated protein kinase (PRKAG2) gene. Endomyocardial biopsy samples did not demonstrate significant glycogen accumulation. Hypertrophic cardiomyopathy due to PRKAG2 mutations may have a degree of cardiac hypertrophy exceeding that expected from observed amounts of glycogen deposition.
ISSN:0172-0643
1432-1971
DOI:10.1007/s00246-009-9521-3