Table 2 Non-chromosomal disorders associated with double outlet right ventricle

Case	Diagnosis	Segmental type	Cardiac anatomy	Significant extracardiac findings	Reference
62	Melnick–Needles syndrome	Unk	DORV	CFD, skeletal dysplasia, motor delay, phosphate reabsorption low	152
63	Melnick–Needles syndrome or ter Haar syndrome	I	DORV	Brachycephaly, congenital glaucoma, CFD, hypo nails, skeletal abnl, absent distal phalanges of toes, SUA	153
64	Gardner–Silengo–Wachtel syndrome or genito–palato-cardiac syndrome	I	DORV	Fetus (21 weeks), micrognathia, CFD, flexion deform digits	154
				Gonadal dysgenesis: 46, XY with NL female genitalia
				Family history of CHD
65	Noonan syndrome	II	DORV	Pigmented nevus, ptosis, hypertelorism, micrognathia, low set ears, short/webbed neck, widely spaced nipples, hypotonia	155
			ASD
			MA
			AoV atresia
			LV hypo
66	Kalmann syndrome	II	DORV	IUGR, microcephaly, sensory neural hearing loss, micropenis, cryptorchidism, MR, absent olfaction, undetectable LH and FSH	156
			ASD
			Pulm art: hypo
			R AoA
			Anomalous CA
67	Ritscher–Schinzel syndrome	II	DORV	CFD, Bilat iris and retinal colobomas, macrocephaly, partial syndactyly, developmental delay	157
			ASD
			Abnl SVC
68	Ritscher–Schinzel syndrome	I	DORV	CFD, Dandy–Walker malformation, bilat iris and L optic nerve colobomas, large fontanels, proximal thumb	157
68	Ritscher–Schinzel syndrome	I	DORV	Family history CHD	157
69	Robinow syndrome	III	DORV	Microcephaly, CFD, blue sclerae, pre/postnatal short stature, delayed skeletal maturation, growth delay	158
			ASD
			R isomerism
			TA, PS
70	Opitz syndrome	I	DORV	Closed bladder exstrophy, bilat double collecting system, CFD, cryptorchidism	159
			PA
			R AoA
71	Ellis–van Creveld (EVC) syndrome	III	DORV	Short limb dwarfism, thoracic defect, polydactyly, ectodermal defects, visceral heterotaxia, asplenia	160
			CAVC
			Common atrium
			R isomerism
			Unroofed CS
			LSVC
72	Adams–Oliver syndrome	II	DORV	Microcephaly, CFD, scalp defect, encephalocele, skeletal abnl, hepatoportal sclerosis, pulmonary HTN, growth delay	161
			PS
			Polyvalvular dysplasia
			Pulmonary artery: hypo
73	Kabuki syndrome	Unk	DORV	CFD	162
74	Kabuki syndrome	II	DORV	FTT, submucous CP, ear pit, CFD, MR	163
74	Kabuki syndrome	II	Ao coarctation	FTT, submucous CP, ear pit, CFD, MR	163
75	VACTERL	I	DORV	Single lobed R lung, tracheal agenesis, imperforate anus	164
75	VACTERL	I	PS	Single lobed R lung, tracheal agenesis, imperforate anus	164
76	Rhabdo-myomatous dysplasia	III	DORV	R lung hypo, bilobar R and L lung, rhabdomyomatosis	165
			ASD
			PDA
			Multiple Ao–pulmonary collaterals
			Anom drainage pulmonary veins
77	CFC1 sequence variant	III	DORV	R isomerism of lungs, intestinal malrotation, asplenia	50
			CAVC
			PA
			TAPVR
			R AoA
			Dextrocardia
78	CFC1 mutation	II	DORV		51
			Subpulmonary VSD
			AoA: hypo
79	CFC1 sequence variant	II	DORV		51
			DIRV
			PA
			Single ventricle
80	CFC1 sequence variant	III	DORV	Transverse liver, R sided stomach, asplenia	52
			AVSD
			PS
			TAVPR
			L IVC
81	CFC1 sequence variant	III	DORV	Malrotation	52
			Interrupted IVC
			Hepatic venous drainage to L sided atrium
			Bilat SVC
			PS
			Bilat/sym PVR
82	CFC1 sequence variants	III	DORV		52
			AVSD
			PA
			Interrupted IVC
			Hepatic venous drainage to R sided atrium
83	CFC1 sequence variants	III	DORV	Transverse liver, asplenia, malrotation	52
			AVSD
			MA
			TAPVR
			Absent LSVC
			Hepatic venous drainage to RA
84	CFC1 sequence variants	II	DORV		52
			AVSD
			PS
			Interrupted IVC
85	CRX mutation	II	DORV		54
85	CRX mutation	II	ASD		54
86	CRX mutation	Unk	DORV		55
87	Cn43 mutations	I	DORV		166
88	Unk	III	DORV	Situs inversus	167
			PS
			TAPVC
			Dextrocardia
89	Unk	III	DORV		167
			PS
			TAPVC
			Dextrocardia
90	Unk	I	DORV	Total situs inversus	146
90	Unk	I	Major Ao–pulmonary collaterals	Total situs inversus	146
91	Unk	III	DORV	Asplenia, visceral heterotaxia, symmetrical liver	168
			CAVC
			PS
			TAPVC
			L SVC
			IVC drains to LA
92	Unk	I	DORV	Partial situs inversus	169
92	Unk	I	TGA	Partial situs inversus	169
93	Unk	I	DORV	Total situs inversus	169
93	Unk	I	PS	Total situs inversus	169
94	Unk	I	DORV	Total situs inversus	169
			AVSD
			PS
			Common atrium
95	Unk	III	DORV	Total situs inversus	130
95	Unk	III	TGA	Total situs inversus	130
96	Unk	III	DORV		130
			RV hypo
			AVSD
			L isomerism
97	Unk	III	DORV		130
			AVSD
			TAPVR
			R isomerism
98	Unk	III	DORV	Malrotation of gut	130
			AVSD
			TGA
			CoA
			IAA
			L isomerism
99	Unk	III	DORV		130
			AVSD
			TGA
			LVNC
			L isomerism
100	Unk	III	DORV	Fetus (29 weeks), IUGR, holoprosencephaly, fused eyes, absent nose, Abnl facial bones, omphalocele, 2/3 R syndactyly, bilat radial aplasia, hypoplastic L thumb, aplastic R thumb, polysplenia, incomplete lobation R lung, kyphosis	170
101	Unk	II	DORV	Accessory spleen	171
			ASD
			MS
			AoV atresia
			TV dysplasia
102	Unk	III	DORV	Polyhydramnios, ascites, hepatomegaly, non-immune hydrops, polysplenia, midgut malrotation	172
			CAVC
			AoV atresia
			MS (cleft)
			LV hypo
			AoA hypo
			Double AoA
			Interrupted IVC
			LSVC
103	Unk	III	DORV	Bilat R bronchial isomerism, undersized spleen, midline liver	173
			ASD
			PS
			R isomerism
			IVC drains to LA
			TAPVD
104	Unk	Unk	DORV	Ectopia cordis	174
105	Unk	I	DORV	Ectopia cordis, CL/CP, encephalocele, hydrocephalus, CDH, ventral hernia	175
			Dextrocardia
			LV diverticulum
106	Unk	I	DORV	Ectopia cordis	130
107	Unk	I	DORV	Premature, ectopia cordis, omphalocele, CDH	175
			PS
			Dextrocardia
108	Unk	I	DORV	Pentalogy of Cantrell (omphalocele, short sternum with defective formation lower third, CDH, CHD), hydronephrosis, sensory neural hearing loss, cryptorchidism, asthma, growth and developmental delay	176
108	Unk	I	PS		176
109	Unk	II	DORV	Ectopia cordis, sternal cleft, diastasis recti, pericardial defect	177
			ASD
			Ao coarct
			LSVC
110	Unk	II	DORV	Ectopia cordis, incomplete split sternum, pericardium absent	177
			ASD
			LV hypo
			LSVC
111	Unk	III	DORV	CDH, polysplenia	57
			ASD
			LV hypo
112	Unk	I	DORV	CDH	178
113	Unk	Unk	DORV	CDH	179
114	Unk	Unk	DORV	CDH	180
115–123	Unk	Unk	DORV	CDH	181
124	Unk	II	DORV	Renal–hepatic–pancreatic dysplasia	169
			MS, AS
			LV hypo
125	Unk	II	DORV	Micrognathia, SUA	169
			TGA
			LV hypo
126	Unk	I	DORV	Omphalocele, SUA	169
			PS
			TGA
127	Unk	I	DORV	Bilat renal agenesis, oligohydramnios	169
128	? new AR syndrome	II	DORV		182
			CAVC
			ASD
			LV hypo
			PS
129	? new AR syndrome	II	DORV	Growth delay	183
			ASD	Family history CHD, consanguinity
			PS	Family history CHD, consanguinity
130	? new AR syndrome	II	DORV	CFD, microcephaly, growth delay, micrognathiaFamily history CHD, consanguinity	183
			ASD
			PS
			LSVC
131	Unk	Unk	DORV	Absent testes, communicating hydrocephalus, peroxisomal dysfunction per Robinow and Beemer (1990)	184
131	Unk	Unk	DORV	Family history CHD, consanguinity	184
132	Unk	II	DORV	Fetus (17 weeks), IUGR, hydraencephaly, hypoplastic L forearm w/abs L hand, R radial aplasia, hydrocephaly, hydrops	185
			MS
			AoV atresia
			LV hypo
			PA
			TV dysplasia
133	Unk	Unk	DORV	CFD, psychomotor retardation, ataxia	146
134	Unk	I	DORV	Unilateral otic hypoplasia/hemifacial microsomia, spinal abnl, absent sacrum, bilat hypoplastic lungs, single cystic/dyspl kidney	186
134	Unk	I	PS		186
135	Unk	II	DORV	Unilateral otic hypoplasia/hemifacial microsomia, unilobed lungs	186
			ASD
			Ventricular inversion
			PS
136	Unk	I	DORV	CFD, sacral dimple, growth and motor delay	150
136	Unk	I	PDA	CFD, sacral dimple, growth and motor delay	150
137	Unk	I	DORV	CFD	150
			TGA
			PS
138	Unk	II	DORV	Anal atresia, thumb contractures, growth delay	150
			ASD
			PS
139	Unk	III	DORV	CFD, renal agenesis, Bilat syndactyly fingers and toes, bifid uvula, MR	150
			PA
			R isomerism
			Atypical ductus
			LV hypo
140	Unk	III	DORV	Sacral dimple, bilat camptodactyly fingers	150
			CAVSD, ASD
			R isomerism
			Atypical ductus
141	Unk	II	DORV	Fetus (14 weeks), cystic hygroma, CL/CP, SUA, bilat hypoplastic thymus	187
			MA
			AoV atresia
			LA hypo
			PA
			Abnl CA
			LSVC
142	Unk.	II	DORV	Fetus (21 weeks), cystic hygroma, SUA, absent thymus	187
			AoV atresia
			PA
143	Unk	II	DORV	Polydactlyly, webbed neck	130
			AVSD
			Absent PV
144	Unk	I	DORV	CL, hemivertebrae	130
			TGA
			Overriding TV
145	Unk	II	DORV	Inguinal hernia, hydronephrosis	130
			AVSD
			TGA
			PA

Abnl, abnormal; Ao, aorta; AoA, aortic arch; AoV, aortic valve; ASD, atrial septal defect; AVSD, atrioventricular septal defect; Bilat, bilateral; CA, coronary artery; CAVC, complete atrioventricular canal; CDH, congenital diaphragmatic hernia; CFD, craniofacial dysmorphism; CL/CP, cleft lip/cleft palate; Coarct, coarctation; CS, coronary sinus; DILV, double inlet left ventricle; DORV, double outlet right ventricle; dyspl, dysplastic; ECA, extracardiac anomalies; FTT, failure to thrive; HTN, hypertension; Hypo, hypoplastic; IAA, interrupted aortic arch; IVC, inferior vena cava; IUGR, intrauterine growth retardation; LA, left atrium; LPA, left pulmonary artery; LSVC, persistent left superior vena cava; LV, left ventricle; LVNC, left ventricular non-compaction; MA, mitral atresia; Malrot, malrotation; MD, Meckel’s diverticulum; MV, mitral valve; NL, normal; PA, pulmonary atresia; PS, pulmonary stenosis; Pulm art, pulmonary artery; PV, pulmonary valve; RA, right atrium; RSCA, right subclavian artery; RV, right ventricle; SUA, single umbilical artery; TAPVC, total anomalous pulmonary venous connection; TAPVR, total anomalous pulmonary venous return; TGA, transposition of the great arteries; TOF, tetralogy of Fallot; TV, tricuspid valve; Unk, unknown; VCFS, velocardiofacial syndrome; VPI, velopharyngeal insufficiency; VSD, ventricular septal defect.