Eisenmenger syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare respiratory disease associated with unoperated congenital heart disease and characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Eisenmenger syndrome | |
| fr | Syndrome d'Eisenmenger | |
| de | Eisenmenger-Syndrom | |
| es | Síndrome de Eisenmenger | |
| it | Sindrome di Eisenmenger | |
| nl | Syndroom van Eisenmenger | |
| pt | Síndrome Eisenmenger | |
| pl | Zespół Eisenmengera | |
| cs | Eisenmengerův syndrom | |
| uk | Синдром Айзенменгера | |
| zh | 艾森曼格综合征 | |
| tr | Eisenmenger sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | I27.2 | NTBT | attributed | validated |
| ICD-11 | BB01.0 | NTBT | index | validated |
| MONDO | 0019944 | E | validated | |
| UMLS | C0013743 | E | validated | |
| GARD | 6323 | E | validated | |
| MedDRA | 10058554 | 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:275803Pulmonary arterial hypertension associated with congenital heart disease
rare respiratory diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Belgium | Value and class | Validated | 19725436[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | 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
58 annotations · validated 2019-06-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0003546 | Exercise intolerance | |
| HP:0002092 | Pulmonary arterial hypertension | |
| Frequent (79-30%) | ||
| HP:0005110 | Atrial fibrillation | |
| HP:0002875 | Exertional dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0030148 | Heart murmur | |
| HP:0012418 | Hypoxemia | |
| HP:0005317 | Increased pulmonary vascular resistance | |
| HP:0001324 | Muscle weakness | |
| HP:0001962 | Palpitations | |
| HP:0005115 | Supraventricular arrhythmia | |
| HP:0004755 | Supraventricular tachycardia | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0031138 | Abnormal B-type natriuretic peptide level | |
| HP:0001392 | Abnormality of the liver | |
| HP:0001681 | Angina pectoris | |
| HP:0011604 | Aortopulmonary window | |
| HP:0001541 | Ascites | |
| HP:0001631 | Atrial septal defect | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0100749 | Chest pain | |
| HP:0001217 | Clubbing | |
| HP:0000961 | Cyanosis | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0030848 | Elevated jugular venous pressure | |
| HP:0002105 | Hemoptysis | |
| HP:0030849 | Hepatojugular reflux | |
| HP:0002240 | Hepatomegaly | |
| HP:0001609 | Hoarse voice | |
| HP:0004840 | Hypochromic microcytic anemia | |
| HP:0001891 | Iron deficiency anemia | |
| HP:0012382 | Left-to-right shunt | |
| HP:0001254 | Lethargy | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0010741 | Pedal edema | |
| HP:0012398 | Peripheral edema | |
| HP:0002098 | Respiratory distress | |
| HP:0011712 | Right bundle branch block | |
| HP:0001708 | Right ventricular failure | |
| HP:0001694 | Right-to-left shunt | |
| HP:0005180 | Tricuspid regurgitation | |
| HP:0001629 | Ventricular septal defect | |
| HP:0004756 | Ventricular tachycardia | |
| Very rare (<4-1%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0006689 | Bacterial endocarditis | |
| HP:0030049 | Brain abscess | |
| HP:0007430 | Generalized edema | |
| HP:0100724 | Hypercoagulability | |
| HP:0002149 | Hyperuricemia | |
| HP:0005518 | Increased mean corpuscular volume | |
| HP:0000083 | Renal insufficiency | |
| HP:0001297 | Stroke | |
| HP:0001279 | Syncope | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0004308 | Ventricular arrhythmia | |
| HP:0002321 | Vertigo | |
| HP:0030828 | Wheezing | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 29720395[PMID]_29776964[PMID]_29792339[PMID]_29939577[PMID]_23829793[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97214
- This record as JSON: /data/d/97214.json