Double outlet right ventricle

Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.

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Narrow down the case reports

Total: 308 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (59.0%)	11484200	Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review. Leonardi ML, Pai GS, Wilkes B, Lebel RR. Am J Med Genet. 2001;102(3):237-42. [ Show abstract ] [ Hide abstract ]
		Micrognathia Depressed nasal bridge


		Cerebellum Congenital Heart Defects Craniofacial Abnormalities Fatal Outcome Females Fetal Death Homo sapiens Infant Infant, Newborn Male Syndrome
2 (57.8%)	19283856	Gardner-Silengo-Wachtel or genito-palato-cadiac syndrome with associated autosomal aneuploidy. Golabi M, James AW, Desai N, Culver K, Cotter PD. Am J Med Genet A. 2009;149A(4):693-7. [ Show abstract ] [ Hide abstract ]
		Micrognathia


		Aneuploidy Chromosome Deletion Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 7 Cleft Palate Congenital Heart Defects Females Gonadal Dysgenesis, 46,XY Homo sapiens Infant, Newborn Male Phenotype Pregnancy Syndrome
3 (55.1%)	19303467	Frank-ter Haar syndrome with unusual clinical features. Dundar M, Saatci C, Tasdemir S, Akcakus M, Caglayan AO, Ozkul Y. Eur J Med Genet. 2009;52(4):247-9. [ Show abstract ] [ Hide abstract ]
		Brachycephaly Full cheeks Adducted thumb Bowing of the long bones
		ZNF420

		Congenital Hand Deformities Congenital Heart Defects Craniofacial Abnormalities Fatal Outcome Genes, Recessive Homo sapiens Infant Male Osteochondrodysplasias Syndrome
4 (52.0%)	2287822	[A rare adult case of double-outlet right ventricle without pulmonary stenosis: an autopsy case]. Okabe M, Sasaguri M, Ohba H, Kawano T, Nakazima Y, Fukuda K, Hiroki T, Arakawa , Yoshida T, Kikuchi M. Kokyu To Junkan. 1990;38(12):1253-8. [ Show abstract ] [ Hide abstract ]
		Facial edema Clubbing of fingers


		Adult Age Factors Double Outlet Right Ventricle Electroencephalography Females Homo sapiens Myocardium Pulmonary Valve Stenosis
5 (50.2%)	28761211 (5523052)	Holt-Oram Syndrome: A Rare Variant. Shankar B, Bhutia E, Kumar D, Kishore S, Das SP. Iran J Med Sci. 2017;42(4):416-419. [ Show abstract ] [ Hide abstract ]
		Stroke Absent radius



6 (49.1%)	28254208	Molecular cytogenetic characterization of Jacobsen syndrome (11q23.3-q25 deletion) in a fetus associated with double outlet right ventricle, hypoplastic left heart syndrome and ductus venosus agenesis on prenatal ultrasound. Chen CP, Wang LK, Wu PC, Chang TY, Chern SR, Wu PS, Chen YN, Chen SW, Lee CC, Yang CW, Wang W. Taiwan J Obstet Gynecol. 2017;56(1):102-105. [ Show abstract ] [ Hide abstract ]
		Single umbilical artery Short femur
		ARHGAP32 ETS1 FLI1 PRPF31

		Adult Chromosome Deletion Chromosomes, Human, Pair 11 Double Outlet Right Ventricle Females Fetal Growth Retardation Fluorescent in Situ Hybridization Gestational Age Homo sapiens Hypoplastic Left Heart Syndrome Jacobsen Distal 11q Deletion Syndrome Pregnancy Ultrasonography, Prenatal
7 (48.8%)	27192890	PARTIAL TRISOMY 4p AND PARTIAL MONOSOMY 13q: CASE REPORT AND A LITERATURE REVIEW. Puvabanditsin S, Herrera-Garcia G, Gengel N, Hussein K, February M, Mayne J, Mehta R. Genet Couns. 2016;27(1):35-41. [ Show abstract ] [ Hide abstract ]
		Microcephaly Overlapping toe


		Chromosome Deletion Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 4 Diseases in Twins Females Fetal Growth Retardation Homo sapiens Infant, Newborn Male Pregnancy Pregnancy Complications, Neoplastic Trisomy
8 (48.2%)	28636109	Xq26.1-26.3 duplication including MOSPD1 and GPC3 identified in boy with short stature and double outlet right ventricle. Hirota Y, Minami T, Sato T, Yokomizo A, Matsumoto A, Goto M, Jinbo E, Yamamgata T. Am J Med Genet A. 2017;173(9):2446-2450. [ Show abstract ] [ Hide abstract ]
		Short stature Small hand
		GPC3 MOSPD1 TGFB1 TGFB2

		Chest Child Chromosomal Duplication Chromosomes, Human, X Craniofacial Abnormalities Double Outlet Right Ventricle Dwarfism Glypican Homo sapiens Intellectual Disability Intracellular Signaling Peptides and Proteins Male Membrane Proteins Neck Sex Chromosome Aberrations Sex Chromosome Disorders Transforming Growth Factor beta Trisomy
9 (47.6%)	28694400	[Co-occurrence of Carpenter syndrome and double outlet right ventricle]. Guvenc O, Cimen D, Arslan D, Guler . Turk Kardiyol Dern Ars. 2017;45(5):454-457. [ Show abstract ] [ Hide abstract ]
		Facial asymmetry Syndactyly


		Acrocephalosyndactylia Child Females Heart Ventricle Homo sapiens
10 (47.0%)	7778598	Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. Hamel BC, Draaisma JM, Pinckers AJ, Boetes C, Hoppe RL, Ropers HH, Brunner HG. Am J Med Genet. 1995;56(3):312-6. [ Show abstract ] [ Hide abstract ]
		Flat occiput Prominent coccyx


		Differential Diagnosis Family Fatal Outcome Homo sapiens Infant, Newborn Male Osteochondrodysplasias Phenotype Terminology as Topic

Phenotype(s) retrieved from Orphanet

Total: 28

HPO ID	Term	Frequency
HP:0001719	Double outlet right ventricle	Obligate (100%)
HP:0000961	Cyanosis	Very frequent (99-80%)
HP:0000160	Narrow mouth	Frequent (79-30%)
HP:0000175	Cleft palate	Frequent (79-30%)
HP:0000176	Submucous cleft hard palate	Frequent (79-30%)
HP:0000316	Hypertelorism	Frequent (79-30%)
HP:0001256	Intellectual disability, mild	Frequent (79-30%)
HP:0001508	Failure to thrive	Frequent (79-30%)
HP:0001629	Ventricular septal defect	Frequent (79-30%)
HP:0001642	Pulmonic stenosis	Frequent (79-30%)
HP:0001649	Tachycardia	Frequent (79-30%)
HP:0002789	Tachypnea	Frequent (79-30%)
HP:0004322	Short stature	Frequent (79-30%)
HP:0004383	Hypoplastic left heart	Frequent (79-30%)
HP:0005280	Depressed nasal bridge	Frequent (79-30%)
HP:0011968	Feeding difficulties	Frequent (79-30%)
HP:0030148	Heart murmur	Frequent (79-30%)
HP:0045025	Narrow palpebral fissure	Frequent (79-30%)
HP:3000022	Abnormality of cartilage of external ear	Frequent (79-30%)
HP:0000829	Hypoparathyroidism	Occasional (29-5%)
HP:0001636	Tetralogy of Fallot	Occasional (29-5%)
HP:0001660	Truncus arteriosus	Occasional (29-5%)
HP:0001680	Coarctation of aorta	Occasional (29-5%)
HP:0002566	Intestinal malrotation	Occasional (29-5%)
HP:0002901	Hypocalcemia	Occasional (29-5%)
HP:0004935	Pulmonary artery atresia	Occasional (29-5%)
HP:0010515	Aplasia/Hypoplasia of the thymus	Occasional (29-5%)
HP:0030853	Heterotaxy	Occasional (29-5%)

Phenotype(s) retrieved from case reports

Total: 116

HPO ID	Term	# of case reports
HP:0001629	Ventricular septal defect	92
HP:0000822	Hypertension	13
HP:0001643	Patent ductus arteriosus	12
HP:0001642	Pulmonic stenosis	8
HP:0032092	Left ventricular outflow tract obstruction	8
HP:0000961	Cyanosis	7
HP:0001746	Asplenia	6
HP:0011536	Right atrial isomerism	6
HP:0001750	Single ventricle	5
HP:0004415	Pulmonary artery stenosis	5
HP:0005301	Persistent left superior vena cava	5
HP:0011537	Left atrial isomerism	5
HP:0011553	Discordant atrioventricular connection	5
HP:0011565	Common atrium	5
HP:0001653	Mitral regurgitation	4
HP:0004756	Ventricular tachycardia	4
HP:0005180	Tricuspid regurgitation	4
HP:0011604	Aortopulmonary window	4
HP:0031854	Left Isomerism	4
HP:0004383	Hypoplastic left heart	3
HP:0004749	Atrial flutter	3
HP:0011683	Restrictive ventricular septal defect	3
HP:0012722	Heart block	3
HP:0030853	Heterotaxy	3
HP:0031834	Aortopulmonary collateral arteries	3
HP:0031853	Isomerism	3
HP:0100584	Endocarditis	3
HP:0000252	Microcephaly	2
HP:0001511	Intrauterine growth retardation	2
HP:0001635	Congestive heart failure	2
HP:0001659	Aortic regurgitation	2
HP:0001667	Right ventricular hypertrophy	2
HP:0002105	Hemoptysis	2
HP:0002777	Tracheal stenosis	2
HP:0004322	Short stature	2
HP:0004942	Aortic aneurysm	2
HP:0005160	Total anomalous pulmonary venous return	2
HP:0010866	Abdominal wall defect	2
HP:0011563	Abnormal ventriculoarterial connection	2
HP:0011571	Parachute mitral valve	2
HP:0011611	Interrupted aortic arch	2
HP:0011623	Muscular ventricular septal defect	2
HP:0012304	Hypoplastic aortic arch	2
HP:0012382	Left-to-right shunt	2
HP:0012383	Bidirectional shunt	2
HP:0030048	Colpocephaly	2
HP:0031625	Pseudoaneurysm	2
HP:0000047	Hypospadias	1
HP:0000062	Ambiguous genitalia	1
HP:0000133	Gonadal dysgenesis	1
HP:0000238	Hydrocephalus	1
HP:0000248	Brachycephaly	1
HP:0000286	Epicanthus	1
HP:0000316	Hypertelorism	1
HP:0000347	Micrognathia	1
HP:0000369	Low-set ears	1
HP:0000470	Short neck	1
HP:0000767	Pectus excavatum	1
HP:0000819	Diabetes mellitus	1
HP:0000960	Sacral dimple	1
HP:0001195	Single umbilical artery	1
HP:0001250	Seizures	1
HP:0001269	Hemiparesis	1
HP:0001274	Agenesis of corpus callosum	1
HP:0001281	Tetany	1
HP:0001297	Stroke	1
HP:0001394	Cirrhosis	1
HP:0001409	Portal hypertension	1
HP:0001508	Failure to thrive	1
HP:0001518	Small for gestational age	1
HP:0001638	Cardiomyopathy	1
HP:0001649	Tachycardia	1
HP:0001691	Muscular subvalvular aortic stenosis	1
HP:0001694	Right-to-left shunt	1
HP:0001712	Left ventricular hypertrophy	1
HP:0001718	Mitral stenosis	1
HP:0001748	Polysplenia	1
HP:0001762	Talipes equinovarus	1
HP:0001845	Overlapping toe	1
HP:0001873	Thrombocytopenia	1
HP:0002007	Frontal bossing	1
HP:0002014	Diarrhea	1
HP:0002089	Pulmonary hypoplasia	1
HP:0002090	Pneumonia	1
HP:0002094	Dyspnea	1
HP:0002098	Respiratory distress	1
HP:0002204	Pulmonary embolism	1
HP:0002243	Protein-losing enteropathy	1
HP:0002575	Tracheoesophageal fistula	1
HP:0002617	Dilatation	1
HP:0002650	Scoliosis	1
HP:0002808	Kyphosis	1
HP:0002937	Hemivertebrae	1
HP:0004937	Pulmonary artery aneurysm	1
HP:0004961	Pulmonary artery sling	1
HP:0005176	Dysplastic aortic valve	1
HP:0005182	Bicuspid pulmonary valve	1
HP:0010464	Streak ovary	1
HP:0010882	Pulmonary valve atresia	1
HP:0011556	Double inlet right ventricle	1
HP:0011624	Apical muscular ventricular septal defect	1
HP:0011641	Coronary artery fistula	1
HP:0011668	Bilateral superior vena cava with no bridging vein	1
HP:0011675	Arrhythmia	1
HP:0011681	Subarterial ventricular septal defect	1
HP:0011682	Perimembranous ventricular septal defect	1
HP:0011699	Atrial reentry tachycardia	1
HP:0011719	Supracardiac total anomalous pulmonary venous connection	1
HP:0012115	Hepatitis	1
HP:0030732	Dysplastic tricuspid valve	1
HP:0030882	Coronary artery aneurysm	1
HP:0031667	Holosystolic murmur	1
HP:0031671	Typical atrial flutter	1
HP:0031855	Right isomerism	1
HP:0100545	Arterial stenosis	1
HP:0100790	Hernia	1

Causative gene(s) retrieved from Orphanet

Total: 0

Gene Symbol	Gene Name	Entrez Gene ID