Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: Potential differences between infantile and adult onset presentation

Pediatric Cardiology

Volumn 30, Issue 8, 2009, Pages 1176-1179

  Kelly, Brendan P ^a   Russell, Mark W ^a   Hennessy, James R ^b   Ensing, Gregory J ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b NONE

Author keywords

Hypertrophic cardiomyopathy; Infant; PRKAG2

Indexed keywords

GLYCOGEN; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE KINASE; PRKAG2 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHEMISTRY; ELECTROCARDIOGRAPHY; GENETICS; HEART MUSCLE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; MALE; RISK FACTOR; ULTRASTRUCTURE;

AMP-ACTIVATED PROTEIN KINASES; CARDIOMYOPATHY, HYPERTROPHIC; ELECTROCARDIOGRAPHY; GLYCOGEN; HUMANS; INFANT; MALE; MYOCARDIUM; RISK FACTORS;

EID: 76549101528     PISSN: 01720643     EISSN: 14321971     Source Type: Journal    
DOI: 10.1007/s00246-009-9521-3     Document Type: Article

References (10)

1. Alcari R, Seidman JG, Seidman C (2008) Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol 19:104-110
2. 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 352:362-372
3. Arad M, Seidman CE, Seidman JG (2007) AMP-activated protein kinase in the heart: role during health and disease. Circ Res 100:474-488 (Pubitemid 46673257)
4. 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 8:712-715 (Pubitemid 44635320)
5. 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 76:1034-1049 (Pubitemid 40705437)
6. 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 344:1823-1831
7. Light PE (2006) Familial Wolf-Parkinson-White syndrome: a disease of glycogen storage or ion channel dysfunction. J Cardiovasc Electrophysiol 17:S158-S161
8. 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: 1251-1255 (Pubitemid 37163532)
9. 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 107:2227-2232 (Pubitemid 36547217)
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 117:144-154