Familial idiopathic dilatation of the right atrium
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- All ages
- Status
- active
A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial idiopathic dilatation of the right atrium | |
| fr | Dilatation idiopathique familiale de l'oreillette droite | |
| de | Familiäre idiopathische rechtsseitige Vorhofdilatation | |
| es | Dilatación idiopática de la aurícula derecha | |
| it | Dilatazione idiopatica dell'atrio destro | |
| nl | Familiale idiopathische dilatatie van rechteratrium | |
| pt | Dilatação da aurícula direita familiar | |
| pl | Rodzinne idiopatyczne rozszerzenie prawego przedsionka | |
| cs | Familiární idiopatická dilatace pravé síně | |
| uk | Сімейна ідіопатична дилатація правого передсердя | |
| zh | 家族性右心房特发性扩张 | |
| tr | Sağ atriyumun ailesel idiyopatik dilatasyonu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q20.8 | NTBT | attributed | validated |
| ICD-11 | LA8F | NTBT | index | validated |
| MONDO | 0015666 | E | validated | |
| UMLS | C4274283 | 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 (2):
- ORPHA:477805Genetic cardiac malformation
rare genetic diseases - ORPHA:98727Rare atrial defect and interatrial communication
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
24 annotations · validated 2021-08-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011995 | Atrial septal dilatation | |
| HP:0030718 | Right atrial enlargement | |
| Frequent (79-30%) | ||
| HP:0030872 | Abnormal cardiac ventricular function | |
| HP:0005345 | Abnormal vena cava morphology | |
| HP:0006707 | Abnormality of the hepatic vasculature | |
| HP:0011675 | Arrhythmia | |
| HP:0005110 | Atrial fibrillation | |
| HP:0001678 | Atrioventricular block | |
| HP:0001640 | Cardiomegaly | |
| HP:0005178 | Complete heart block with narrow QRS complexes | |
| HP:0002094 | Dyspnea | |
| HP:0031667 | Holosystolic murmur | |
| HP:0031665 | Midsystolic murmur | |
| HP:0001962 | Palpitations | |
| HP:0012664 | Reduced left ventricular ejection fraction | |
| HP:0001667 | Right ventricular hypertrophy | |
| HP:0001279 | Syncope | |
| HP:0005180 | Tricuspid regurgitation | |
| Occasional (29-5%) | ||
| HP:3000042 | Abnormal jugular vein morphology | |
| HP:0002240 | Hepatomegaly | |
| HP:0004757 | Paroxysmal atrial fibrillation | |
| HP:0012398 | Peripheral edema | |
| HP:0002202 | Pleural effusion | |
| HP:0001250 | Seizure | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30546704[PMID]_11326142[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1677
- This record as JSON: /data/d/1677.json