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

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.

Keywords

Infantile Hypertrophic Cardiomyopathy - PRKAG2 gene mutation - worse outcome

• References

• 1 Lipshultz SE, Sleeper LA, Towbin JA. , et al. The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med 2003; 348 (17) 1647-1655
• 2 Nugent AW, Daubeney PE, Chondros P. , et al; National Australian Childhood Cardiomyopathy Study. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 2003; 348 (17) 1639-1646
• 3 Colan SD, Lipshultz SE, Lowe AM. , et al. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry. Circulation 2007; 115 (06) 773-781
• 4 Blair E, Redwood C, Ashrafian H. , et al. Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum Mol Genet 2001; 10 (11) 1215-1220
• 5 Burwinkel B, Scott JW, Bührer C. , et al. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet 2005; 76 (06) 1034-1049
• 6 Bayrak F, Komurcu-Bayrak E, Mutlu B, Kahveci G, Basaran Y, Erginel-Unaltuna N. Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation. Eur J Heart Fail 2006; 8 (07) 712-715
• 7 Yang KQ, Lu CX, Zhang Y. , et al. A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation. Sci Rep 2017; 7 (01) 2407
• 8 Porto AG, Brun F, Severini GM. , et al. Clinical spectrum of PRKAG2 syndrome. Circ Arrhythm Electrophysiol 2016; 9 (01) e003121
• 9 Kelly BP, Russell MW, Hennessy JR, Ensing GJ. Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation. Pediatr Cardiol 2009; 30 (08) 1176-1179
• 10 Regalado JJ, Rodriguez MM, Ferrer PL. Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency. Pediatr Cardiol 1999; 20 (04) 304-307
• 11 Akman HO, Sampayo JN, Ross FA. , et al. Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase. Pediatr Res 2007; 62 (04) 499-504
• 12 Torok RD, Austin SL, Phornphutkul C. , et al. PRKAG2 mutations presenting in infancy. J Inherit Metab Dis 2017; 40 (06) 823-830