Table 2.

Genotype and phenotype of patients with positive genetic results.

ID	NCCM Pattern	CHD	Gene	Variant	Zygosity	Parental origin	Pathogenicity
PATHOGENIC/LIKELY PATHOGENIC VARIANTS
2	BV	EA; PS; VSD	NONO	NM_001145408.1: c.246_249del, p.P83fs7*	Hemizygous	Maternal	Pathogenic
3	LV	PA; VSD; PLSVC; RAAWMIB; RDA	NONO	NM_001145408.1: c.246_249del, p.P83fs7*	Hemizygous	Maternal	Pathogenic
4	LV	PS; VSD; RVD; PLSVC	NONO	NM_001145408.1: c.246_249del, p.P83fs7*	Hemizygous	Maternal	Pathogenic
6	LV	EA; ASD; PS; ABPOTAA	NONO	NM_001145408.1: c.471del, p.Q157fs18*	Hemizygous	Maternal	Pathogenic
9	BV	NA	PRKAG2	NM_016203.3: c.G1592A, p.R531Q	Heterozygous	De novo	Pathogenic
10	BV	PS	KCNH2	NM_000238.4: c.A1847G, p.Y616C	Heterozygous	De novo	Pathogenic
17	BV	EA; PS; VSD	NONO	NM_001145408.1: c.471del, p.Q157fs18*	Hemizygous	Maternal	Pathogenic
36	LV	NA	TPM1	NM_001018005.2: c.G398A, p.R133Q	Heterozygous	De novo	Likely pathogenic
ID	NCCM	CHD	Copy Number Variant		Size (Mbp)	Parental Origin	Pathogenicity
PATHOGENIC/LIKELY PATHOGENIC COPY NUMBER VARIANTS
13	LV	VSD	seq[hg19]del(1)(q42.3q44)		12.952	De novo	Pathogenic
			chr1:g.236262500_249214999del*

ABPOTAA, abnormal branching pattern of the aortic arch; BV, biventricle; CHD, congenital heart defect; EA, Ebstein's anomaly; LV, left ventricle; NCCM, noncompaction cardiomyopathy; PA, Pulmonary atresia; PLSVC, Persistent left superior vena cava; PS, Pulmonic stenosis; RAAWMIB, Right aortic arch with mirror image branching; RDA, Right ductus arteriosus; RVD, Right ventricular diverticulum; VSD, ventricular septal defect.

^*, This CNV contains 116 genes, among which fourteen genes FH, MTR, HNRNPU, AKT3, RYR2, EDARADD, ZBTB18, GREM2, COX20, CHRM3, NLRP3, FMN2, ACTN2, and SDCCAG8 are associated with diseases in OMIM database. RYR2 gene is known to be associated with cardiomyopathy (arrhythmogenic right ventricular dysplasia-2).