Cardiac diverticulum

Summary

Cardiac diverticulum (MONDO:0015677) is a disease. A subtype of congenital heart malformation — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 42

Clinical features

Signs & symptoms

Clinical features (HPO)

42 HPO clinical features (Orphanet curated; top 42 by frequency):

HPO ID	Term	Frequency
HP:0003115	Abnormal EKG	Frequent (30-79%)
HP:0000775	Abnormality of the diaphragm	Occasional (5-29%)
HP:0001279	Syncope	Occasional (5-29%)
HP:0001537	Umbilical hernia	Occasional (5-29%)
HP:0001539	Omphalocele	Occasional (5-29%)
HP:0001540	Diastasis recti	Occasional (5-29%)
HP:0001627	Abnormal heart morphology	Occasional (5-29%)
HP:0001629	Ventricular septal defect	Occasional (5-29%)
HP:0001631	Atrial septal defect	Occasional (5-29%)
HP:0001635	Congestive heart failure	Occasional (5-29%)
HP:0001651	Dextrocardia	Occasional (5-29%)
HP:0001669	Transposition of the great arteries	Occasional (5-29%)
HP:0001679	Abnormal aortic morphology	Occasional (5-29%)
HP:0001680	Coarctation of aorta	Occasional (5-29%)
HP:0001681	Angina pectoris	Occasional (5-29%)
HP:0001712	Left ventricular hypertrophy	Occasional (5-29%)
HP:0001962	Palpitations	Occasional (5-29%)
HP:0004415	Pulmonary artery stenosis	Occasional (5-29%)
HP:0004971	Pulmonary artery hypoplasia	Occasional (5-29%)
HP:0005301	Persistent left superior vena cava	Occasional (5-29%)
HP:0006682	Ventricular extrasystoles	Occasional (5-29%)
HP:0006714	Aplasia/Hypoplasia of the sternum	Occasional (5-29%)
HP:0010773	Partial anomalous pulmonary venous return	Occasional (5-29%)
HP:0010866	Abdominal wall defect	Occasional (5-29%)
HP:0011628	Congenital defect of the pericardium	Occasional (5-29%)
HP:0011675	Arrhythmia	Occasional (5-29%)
HP:0100749	Chest pain	Occasional (5-29%)
HP:0001647	Bicuspid aortic valve	Very rare (<1-4%)
HP:0001650	Aortic valve stenosis	Very rare (<1-4%)
HP:0001655	Patent foramen ovale	Very rare (<1-4%)
HP:0001663	Ventricular fibrillation	Very rare (<1-4%)
HP:0001718	Mitral stenosis	Very rare (<1-4%)
HP:0001907	Thromboembolism	Very rare (<1-4%)
HP:0004756	Ventricular tachycardia	Very rare (<1-4%)
HP:0005182	Bicuspid pulmonary valve	Very rare (<1-4%)
HP:0010446	Tricuspid stenosis	Very rare (<1-4%)
HP:0011636	Abnormal coronary artery origin	Very rare (<1-4%)
HP:0011662	Tricuspid atresia	Very rare (<1-4%)
HP:0100584	Endocarditis	Very rare (<1-4%)
HP:0001634	Mitral valve prolapse	Very rare (<1-4%)
HP:0001636	Tetralogy of Fallot	Very rare (<1-4%)
HP:0001643	Patent ductus arteriosus	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	cardiac diverticulum
Mondo ID	MONDO:0015677
Orphanet	1686
UMLS	C0546315
MedGen	903640
GARD	0001094
Is cancer (heuristic)	no

Also known as: Cardiac diverticulum · cardiac diverticulum (disease)

Data availability: 1 HPO phenotype.

Disease family

This is a subtype of congenital heart malformation. 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 › cardiac diverticulum

Related subtypes (25): transposition of the great arteries, congenital left-sided heart lesions, interventricular septum aneurysm, congenital heart defects, multiple types, 2, coronary artery congenital malformation, criss-cross heart, triatrial heart, familial idiopathic dilatation of the right atrium, conotruncal heart malformations, congenital mitral malformation, congenital pericardium anomaly, ectopia cordis, visceral heterotaxy, mesocardia, univentricular cardiopathy, congenital anomaly of the great arteries, Laubry-Pezzi syndrome, congenital Gerbode defect, juxtaposition of the atrial appendages, ectasia of the right atrial appendage, ectasia of the left appendage, atrial septal aneurysm, congenital acardia, congenital right-sided heart lesions, congenital heart defects, multiple types, 1, X-linked

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.