Congenital Gerbode defect
Synonyms: Left ventricular-to-right atrial communication
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, congenital non-syndromic heart malformation characterized by an abnormal shunting between the left ventricle and right atrium. The clinical manifestation varies, depending on the volume of the shunt. Small congenital shunts are usually asymptomatic or associated with dyspnea and fever, whereas larger shunts often present with chest pain, fatigue, weakness, lower extremity edema, and sometimes heart failure and death. Other congenital heart anomalies may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital Gerbode defect | Left ventricular-to-right atrial communication |
| fr | Anomalie congénitale de Gerbode | Communication entre le ventricule gauche et l'atrium droit · Communication entre le ventricule gauche et l'oreillette droite |
| de | Gerbode-Defekt, kongenitaler | Ventrikelseptumdefekt mit linksventrikulärem-rechtsatrialem-Shunt |
| es | Defecto congénito de Gerbode | Comunicación ventrículo izquierdo-aurícula derecha |
| it | Difetto congenito di Gerbode | |
| nl | Congenitaal defect van Gerbode | Linkerventriculaire naar rechteratriale communicatie |
| pt | Defeito de Gerbode | |
| pl | Ubytek Gerbode'a | Przeciek lewa komora-prawy przedsionek |
| cs | Gerbodeův defekt | Komunikace mezi levou komorou a pravou síní |
| uk | Вроджена вада Гербоде | Звязок лівого шлуночка з правим передсердям |
| zh | 先天性Gerbode缺损 | 左心室-右心房交通 |
| tr | Doğumsal Gerbode defekti | Sol ventrikülerden sağa atriyal iletim |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q21.0 | NTBT | attributed | validated |
| ICD-11 | LA87.Y | NTBT | index | validated |
| MONDO | 0020428 | E | validated | |
| UMLS | C0344947 | 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 | — | Europe | 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
28 annotations · validated 2021-10-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012382 | Left-to-right shunt | |
| HP:0001629 | Ventricular septal defect | |
| Frequent (79-30%) | ||
| HP:0031443 | Abnormal tricuspid valve leaflet morphology | |
| HP:0001785 | Ankle swelling | |
| HP:0006689 | Bacterial endocarditis | |
| HP:0001635 | Congestive heart failure | |
| HP:0030830 | Crackles | |
| HP:0002094 | Dyspnea | |
| HP:0005168 | Elevated right atrial pressure | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0031667 | Holosystolic murmur | |
| HP:0001962 | Palpitations | |
| HP:0011682 | Perimembranous ventricular septal defect | |
| HP:0012398 | Peripheral edema | |
| HP:0030718 | Right atrial enlargement | |
| HP:0001708 | Right ventricular failure | |
| HP:0001667 | Right ventricular hypertrophy | |
| HP:0031664 | Systolic heart murmur | |
| Occasional (29-5%) | ||
| HP:0100749 | Chest pain | |
| HP:0002563 | Constrictive pericarditis | |
| HP:0002617 | Dilatation | |
| HP:0030848 | Elevated jugular venous pressure | |
| HP:0001324 | Muscle weakness | |
| HP:0010741 | Pedal edema | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0005180 | Tricuspid regurgitation | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 28983172[PMID]_28511407[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99095
- This record as JSON: /data/d/99095.json