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01-11-2009 | Case Report

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

Authors: Brendan P. Kelly, Mark W. Russell, James R. Hennessy, Gregory J. Ensing

Published in: Pediatric Cardiology | Issue 8/2009

Abstract

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.

Alcari R, Seidman JG, Seidman C (2008) Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol 19:104–110

Arad M, Maron BJ, Gorham JM, Johnson WH, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Siedman CE, Seidman JG (2005) Glycogen storage disease presenting as hypertrophic cardiomyopathy. N Engl J Med 352:362–372CrossRefPubMed

Arad M, Seidman CE, Seidman JG (2007) AMP-activated protein kinase in the heart: role during health and disease. Circ Res 100:474–488CrossRefPubMed

Bayak F, Komurcu-Bayrack E, Mutlu B, Kahveci G, Basaran Y, Erginel-Unaltuna N (2006) Ventricular preexcitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation. Eur J Heart Fail 8:712–715CrossRef

Burwinkel B, Scott JW, Buhrer C, van Landeghem FK, Cox GF, Wilson CJ, Hardie DG, Kilimann MW (2005) Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the γ2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet 76:1034–1049CrossRefPubMed

Gollob MH, Green MS, Tang AS, Gollob T, Karibe A, Al Sayegh AH, Ahmad F, Lozado R, Shah G, Fananapazir L, Bachinski LL, Roberts R (2007) Identification of a gene responsible for familial Wolf-Parkinson-White syndrome. N Engl J Med 344:1823–1831CrossRef

Light PE (2006) Familial Wolf-Parkinson-White syndrome: a disease of glycogen storage or ion channel dysfunction. J Cardiovasc Electrophysiol 17:S158–S161CrossRefPubMed

Oliveira SM, Ehtisham J, Redwood CS, Ostman-Smith I, Blair EM, Watkins H (2003) Mutation analysis of AMP-activated kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis. J Mol Cell Cardiol 35:1251–1255CrossRefPubMed

Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet J, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M (2003) Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 107:2227–2232CrossRefPubMed

10.

Wolf CM, Arad A, Ahmad F, Sanbe A, Berstein SA, Toka O, Konno T, Morley G, Robbins J, Seidman JG, Seidman CE, Berul CI (2008) Reversability of PRKAG2 glycogen-storage cardiomyopathy and electrophsiological manifestations. Circulation 117:144–154CrossRefPubMed

Title: Severe Hypertrophic Cardiomyopathy in an Infant with a Novel PRKAG2 Gene Mutation: Potential Differences Between Infantile and Adult Onset Presentation
Authors: Brendan P. Kelly
Mark W. Russell
James R. Hennessy
Gregory J. Ensing
Publication date: 01-11-2009
Publisher: Springer-Verlag
Published in: Pediatric Cardiology / Issue 8/2009
Print ISSN: 0172-0643
Electronic ISSN: 1432-1971
DOI: https://doi.org/10.1007/s00246-009-9521-3

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

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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