Table 1. Gene mutations and outcomes in previously reported cases of infantile hypertrophic cardiomyopathy due to PRKAG2 gene.

Author name	Journal, year of publication	Age at diagnosis	Gene mutation	Outcome
Burwinkel et al 5	American Journal of Human Genetics, 2005	Neonate	Heterozygous p. Arg531Gln mutation of PRKAG2 gene	Death (21 days of life)
Kelly et al 9	Pediatric Cardiology,2009	6 months	Heterozygous p. Glu506Gln mutation of PRKAG2 gene	Underwent surgical septal myectomy
Regalado et al 10	Pediatric Cardiology, 1999	Fetus ∼31 weeks of gestation	Heterozygous p. Arg531Gln mutation of PRKAG2 gene	Death (75 days of life)
		DOL 10	Heterozygous p. Arg531Gln mutation of PRKAG2 gene	Death (60 days of life)
Akman et al 11	Pediatric Research, 2007	10 weeks of age	Heterozygous p. Arg384Thr mutation of PRKAG2 gene	Death (5 months of age)
Torok et al 12	Journal of Inherited Metabolic Disease, 2017	At birth	Heterozygous p. Lys475Glu mutation of PRKAG2 gene	Asymptomatic at 5 years
		5 weeks	Heterozygous p. Arg531Gln mutation of PRKAG2 gene	Death (4 months of age)
		2 months	Heterozygous p. Gly100Ser mutation of PRKAG2 gene	Worsening muscle weakness, asymptomatic from cardiac standpoint at 7 years of age
Present case		Fetus ∼28 weeks of gestation	Heterozygous p. Arg531Gln mutation of PRKAG2 gene	Death (7 weeks of age)

Abbreviation: DOL, days of life.