Table 1.

LSLs with CNVs from literature; HLHS – Hypoplastic Left Heart Syndrome; CoA – Coarctation of the Aorta; AVS – Aortic Valve Stenosis; BAV – bicuspid Aortic Valve; ASD – Autism Spectrum Disorder

Source	Method	Group	Totals	HLHS	CoA	AVS/BAV	LSL + ASD
Hitz 2012 [12] (a)	Affymetrix SNP	Multiplex families	59
	Array 6.0	Trios	8
Payne 2012 [14] (a)		All Cases	43	43
		Syndromic cases	10	10
Geng 2014 [25] (b)	Agilent 244K	CHD Cases (multiple types)	410	47	74
		Isolated CHD cases		31	26
		Syndromic CHD cases	248	16	48
		Pathogenic CNV Isolated cases	162	5	5
		Pathogenic CNV Isolated and Syndromic Cases		8	19
White 2014 [25]	HumanHap550 V3	CHD Cases (multiple types)	257	122	83	51
		Pathogenic Inherited CNV All cases (c)	68
		Pathogenic de novo CNV All Cases (c)	5
Glessner 2014 [10](d)	Omni 1M	CHD cases SNP genotype array (multiple types)	415	60	97	204
	WES	CHD cases WES	358	46	65	146
		CHD Cases by Both methods	233
		Pathogenic de novo CNV All Cases		11	6		5
		Pathogenic de novo CNV cases (extracardiac lesions)		3	3		3
Warburton 2014 [18]	Nimblegen HD2	CHD Cases (Conotruncal and HLHS)	223	71
		Pathogenic de novo CNV All Cases		9

^a- CNV pathogenicity not defined, therefore CNVs not included

^b- No parental testing; CoA group includes CoA, AS, and "other"

^c- large CNVs (>269 kb)

^d– No differentiation between isolated and extracardiac; de novo events in isolated stated at 6% and in extracardiac at 31%