Table 2.

G4.5 Gene Variants Found in 37 of 158 Children Enrolled in the Pediatric Cardiomyopathy Registry^*

Sex	n/N (%)	Hemizygous SNP, n/N (%)	Intronic Substitution, SNP, n/N (%)	Missense Substitution, Unclassified, n/N (%)	Hemizygous Mutation*, n/N (%)
Boys	2 7/110 (25)†	22/27 (81)	24/27 (89)	3/27 (11)	2/27 (7)
Girls	10/48 (22)†	3/10 (30)	10/10 (100)	0/10 (0)	0/10 (0)

^*The number of children with G4.5 gene variants as a proportion of all children with the same diagnosis were: 9 of 45 (20%) children with pure hypertrophic cardiomyopathy; 19 of 79 (24%) with pure dilated cardiomyopathy; 3 of 10 (30%) with pure restrictive cardiomyopathy; 4 of 22 (18%) with other or mixed forms of cardiomyopathy; and 2 of 2 with unknown forms.

^†Causes of cardiomyopathy in boys: idiopathic disease (n = 6); Barth syndrome or probably myocarditis (n = 2 each); Cori disease, Noonan syndrome, or familial dilated cardiomyopathy (n = 1 each); causes in girls: idiopathic disease (n = 6); familial hypertrophic cardiomyopathy or confirmed myocarditis (n = 2 each). Children with Barth syndrome patients each had two variants, denoted here as hemizygous mutations (hemizygous SNPs were not counted). [From Towbin JA, Sleeper L, Jefferies JL, et al. Genetic and viral genome analysis of childhood cardiomyopathy: the PCMR/PCSR experience [Abstract]. In: J Am Coll Cardiol 2010;55;A43.E409.

Submitted for oral presentation at the 2010 America College of Cardiology Annual Scientific Sessions, Orlando, FL.]