Cardiac diverticulum
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cardiac diverticulum | |
| fr | Diverticule du coeur | |
| de | Herzdivertikel | |
| es | Divertículo cardíaco | |
| it | Diverticolo cardiaco | |
| nl | Cardiaal divertikel | |
| pt | Divertículo cardíaco | |
| pl | Uchyłek serca | |
| cs | Srdeční divertikl | Vrozený divertikl levé komory |
| uk | Дивертикул серця | |
| zh | 心脏憩室 | |
| tr | Kardiyak divertikül |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q24.8 | NTBT | index | validated |
| ICD-11 | LA88.Y | NTBT | attributed | validated |
| MONDO | 0015677 | E | validated | |
| UMLS | C0546315 | E | validated | |
| GARD | 1094 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:88991Rare congenital heart disease
rare developmental anomalies during embryogenesis; rare cardiac malformations
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
42 annotations · validated 2021-08-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003115 | Abnormal EKG | |
| Occasional (29-5%) | ||
| HP:0010866 | Abdominal wall defect | |
| HP:0001679 | Abnormal aortic morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0000775 | Abnormality of the diaphragm | |
| HP:0001681 | Angina pectoris | |
| HP:0006714 | Aplasia/Hypoplasia of the sternum | |
| HP:0011675 | Arrhythmia | |
| HP:0001631 | Atrial septal defect | |
| HP:0100749 | Chest pain | |
| HP:0001680 | Coarctation of aorta | |
| HP:0011628 | Congenital defect of the pericardium | |
| HP:0001635 | Congestive heart failure | |
| HP:0001651 | Dextrocardia | |
| HP:0001540 | Diastasis recti | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0001539 | Omphalocele | |
| HP:0001962 | Palpitations | |
| HP:0010773 | Partial anomalous pulmonary venous return | |
| HP:0005301 | Persistent left superior vena cava | |
| HP:0004971 | Pulmonary artery hypoplasia | |
| HP:0004415 | Pulmonary artery stenosis | |
| HP:0001279 | Syncope | |
| HP:0001669 | Transposition of the great arteries | |
| HP:0001537 | Umbilical hernia | |
| HP:0006682 | Ventricular extrasystoles | |
| HP:0001629 | Ventricular septal defect | |
| Very rare (<4-1%) | ||
| HP:0011636 | Abnormal coronary artery origin | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0005182 | Bicuspid pulmonary valve | |
| HP:0100584 | Endocarditis | |
| HP:0001718 | Mitral stenosis | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001907 | Thromboembolism | |
| HP:0011662 | Tricuspid atresia | |
| HP:0010446 | Tricuspid stenosis | |
| HP:0001663 | Ventricular fibrillation | |
| HP:0004756 | Ventricular tachycardia | |
Annotation source: 32065468[PMID]_25782048[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1686
- This record as JSON: /data/d/1686.json