Double outlet left ventricle

Summary

Double outlet left ventricle (MONDO:0018090) is a disease. A subtype of conotruncal heart malformations — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 17

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Prevalence at birth	1-9 / 1 000 000	0.5	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Europe	Not yet validated

Signs & symptoms

Clinical features (HPO)

17 HPO clinical features (Orphanet curated; top 17 by frequency):

HPO ID	Term	Frequency
HP:0011581	Double outlet left ventricle	Obligate (100%)
HP:0001629	Ventricular septal defect	Very frequent (80-99%)
HP:0001643	Patent ductus arteriosus	Very frequent (80-99%)
HP:0033118	Abnormal right ventricular function	Very frequent (80-99%)
HP:0000961	Cyanosis	Frequent (30-79%)
HP:0001640	Cardiomegaly	Frequent (30-79%)
HP:0011662	Tricuspid atresia	Frequent (30-79%)
HP:0011686	Abnormal coronary artery course	Frequent (30-79%)
HP:0000028	Cryptorchidism	Occasional (5-29%)
HP:0000202	Orofacial cleft	Occasional (5-29%)
HP:0000316	Hypertelorism	Occasional (5-29%)
HP:0001508	Failure to thrive	Occasional (5-29%)
HP:0002789	Tachypnea	Occasional (5-29%)
HP:0031664	Systolic heart murmur	Occasional (5-29%)
HP:0004415	Pulmonary artery stenosis	Very rare (<1-4%)
HP:0005182	Bicuspid pulmonary valve	Very rare (<1-4%)
HP:0010882	Pulmonary valve atresia	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	double outlet left ventricle
Mondo ID	MONDO:0018090
Orphanet	3427
ICD-10-CM	Q20.2
ICD-11	2094997989
SNOMED CT	7368005
UMLS	C0265809
MedGen	120558
GARD	0001907
Is cancer (heuristic)	no

Also known as: DOLV · Double outlet left ventricle · double outlet left ventricle (disease)

Data availability: 1 HPO phenotype.

Disease family

This is a subtype of conotruncal heart malformations. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › congenital anomaly of cardiovascular system › congenital heart malformation › conotruncal heart malformations › double outlet left ventricle

Related subtypes (7): pulmonary atresia with ventricular septal defect, tetralogy of fallot, abnormal origin of the pulmonary artery, congenital aortopulmonary window, persistent truncus arteriosus, double outlet right ventricle, pulmonary valve agenesis

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.