ORPHA:228140
Idiopathic ventricular fibrillation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- All ages
- Status
- active
A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Idiopathic ventricular fibrillation | |
| fr | Fibrillation ventriculaire idiopathique | |
| de | Kammerflimmern, idiopathisches | |
| es | Fibrilación ventricular idiopática | |
| it | Fibrillazione ventricolare idiopatica | Fibrillazione ventricolare parossistica familiare, tipo non-Brugada |
| nl | Idiopathisch ventrikelfibrilleren | |
| pt | Fibrilação ventricular idiopática | |
| pl | Idiopatyczne migotanie komór, nie typu Brugada | |
| cs | Idiopatická ventrikulární fibrilace, jiný než Brugadův typ | Familiární paroxyzmální ventrikulární fibrilace, jiný než Brugadův typ |
| uk | Ідіопатичне фібриляція шлуночків, не тип Бругада | Сімейна пароксизмальна фібриляція шлуночків, не типу Бругада |
| zh | 非 Brugada型特发性心室颤动 | 非 Brugada型家族性阵发性心室纤维性颤动 |
| tr | İdiyopatik ventriküler fibrilasyon, Brugada tipi olmayan | Ailesel paroksismal ventriküler fibrilasyon, Brugada olmayan tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603829 | E | validated | |
| OMIM | 612956 | BTNT | validated | |
| ICD-10 | I49.0 | NTBT | attributed | validated |
| ICD-11 | BC65.4 | E | specific | validated |
| UMLS | C4510132 | E | validated | |
| GARD | 4227 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DPP6 | Disease-causing germline mutation(s) in | Assessed | HGNC:3010 | ENSG00000130226 | 126141 | 7q36.2 | dipeptidyl peptidase like 6 | 19285295[PMID]_21512816[PMID] |
| SCN5A | Disease-causing germline mutation(s) in | Assessed | HGNC:10593 | ENSG00000183873 | 600163 | 3p22.2 | sodium voltage-gated channel alpha subunit 5 | 10940383[PMID] |
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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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228140
- This record as JSON: /data/d/228140.json