Univentricular heart
disease diseaseOn this page
Also known as Double inlet left ventricle
Summary
Univentricular heart (MONDO:0015451) is a disease and 22 clinical trials. Top therapeutic interventions include sildenafil and horse chestnut. A subtype of univentricular cardiopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide) [Orphanet-validated]
- ClinVar variants: 1
- Phenotypes (HPO): 14
- Clinical trials: 22
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 7.5 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
14 HPO clinical features (Orphanet curated; top 14 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0030950 | Pulmonary venous hypertension | Very frequent (80-99%) |
| HP:0034350 | Valvular pulmonary stenosis | Very frequent (80-99%) |
| HP:0001508 | Failure to thrive | Frequent (30-79%) |
| HP:0001635 | Congestive heart failure | Frequent (30-79%) |
| HP:0002098 | Respiratory distress | Frequent (30-79%) |
| HP:0002789 | Tachypnea | Frequent (30-79%) |
| HP:0004383 | Hypoplastic left heart | Frequent (30-79%) |
| HP:0030148 | Heart murmur | Frequent (30-79%) |
| HP:0000961 | Cyanosis | Occasional (5-29%) |
| HP:0001640 | Cardiomegaly | Occasional (5-29%) |
| HP:0002040 | Esophageal varix | Occasional (5-29%) |
| HP:0002240 | Hepatomegaly | Occasional (5-29%) |
| HP:0011675 | Arrhythmia | Occasional (5-29%) |
| HP:0012418 | Hypoxemia | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | univentricular heart |
| Mondo ID | MONDO:0015451 |
| MeSH | D000080039 |
| Orphanet | 1464 |
| ICD-11 | 1786413029 |
| SNOMED CT | 253283000 |
| UMLS | C0344622 |
| MedGen | 488862 |
| GARD | 0018725 |
| MedDRA | 10045545 |
| Is cancer (heuristic) | no |
Also known as: Double inlet left ventricle
Data availability: 1 ClinVar variant.
Disease family
This is a subtype of univentricular cardiopathy. 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 › univentricular cardiopathy › univentricular heart
Related subtypes (2): hypoplastic left heart syndrome, hypoplastic right heart syndrome
Subtypes (1): univentricular heart with single atrio-ventricular valve
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
ClinVar germline variants
1 retrieved; paginated sample, class counts are floors:
1 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 268037 | 46;XY;t(2;14)(p22;q24.3)dn | Likely pathogenic | criteria provided, single submitter |
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: 22.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 18 |
| PHASE3 | 1 |
| PHASE2 | 1 |
| PHASE1 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03997097 | PHASE3 | WITHDRAWN | Efficacy of Phosphodiesterase-type 5 Inhibitors in Patients With Univentricular Congenital Heart Disease |
| NCT04035317 | PHASE2 | WITHDRAWN | Aesculus Hippocastanum L. on Fontan Circulation |
| NCT05647213 | PHASE1 | RECRUITING | Autologous Induced Pluripotent Stem Cells of Cardiac Lineage for Congenital Heart Disease |
| NCT05744934 | EARLY_PHASE1 | COMPLETED | Interstage Monitoring Using an Implantable Loop Recorder: A Pilot Study |
| NCT04782232 | Not specified | RECRUITING | Registry to Assess the Safety and Feasibility of the Subpulmonary Support with the Novel Venous Cannula in Patients with Failing/Absence of the Right Heart |
| NCT05563376 | Not specified | RECRUITING | Fontan-Sprechstunde |
| NCT05620030 | Not specified | RECRUITING | Prospective Evaluation of Univentricular Hearts |
| NCT06735521 | Not specified | RECRUITING | Cardiac Magnetic Resonance Stress-perfusion Study in Patinets with Fontan Circulation |
| NCT07532369 | Not specified | NOT_YET_RECRUITING | Occlutech AFR Fontan Study |
| NCT07535203 | Not specified | RECRUITING | Fontan Outcomes in Oligemia vs Plethora in Univentricular CHD |
| NCT01107990 | Not specified | TERMINATED | Global and Regional Myocardial Strain and Power Output In Patients With Single Ventricles Using Novel MRI Techniques |
| NCT02283255 | Not specified | COMPLETED | Cardiovascular, Pulmonary and Skeletal Muscle Evaluation Postoperative in Fontan Patients: Effects of Exercise Training |
| NCT03379805 | Not specified | UNKNOWN | Lymphatic Function in Patients With a Fontan-Kreutzer Circulation |
| NCT03667144 | Not specified | UNKNOWN | Survival of Double Inlet Left Ventricle Patients Without Fontan Circulation |
| NCT03818373 | Not specified | COMPLETED | Respiratory Drive in Patients With Univentricular Congenital Heart Disease |
| NCT04026542 | Not specified | COMPLETED | Factors Associated With Normal Exercise Capacity in Patients With Single Ventricle |
| NCT04163653 | Not specified | COMPLETED | Lymphatic Morphology of Fontan Patients |
| NCT04394507 | Not specified | COMPLETED | Lymphatic Function in Patients With a Fontan Circulation From Brazil |
| NCT04581668 | Not specified | UNKNOWN | Impact of NAVA Ventilation on Brain Oxygenation and Perfusion in Children With Congenital Heart Disease |
| NCT05454254 | Not specified | COMPLETED | Effect of Muscle Strengthening Training in Adults with Fontan Circulation |
| NCT05617534 | Not specified | UNKNOWN | Impact of Exercise Training on Single Ventricle Function in Paediatric Fontan Patients |
| NCT05934578 | Not specified | COMPLETED | Lymphatic Function in Patients With Fontan Circulation: Effect of Physical Training |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| SILDENAFIL | 4 | 1 |
| HORSE CHESTNUT | 2 | 1 |
Related Atlas pages
- Drugs: Sildenafil