Idiopathic ventricular fibrillation, not Brugada type
General Information (adopted from Orphanet):
| Synonyms, Signs: |
VF1 VF2 Familial paroxysmal ventricular fibrillation, not Brugada type non-Brugada-type idiopathic ventricular fibrillation |
| Number of Symptoms | 8 |
| OrphanetNr: | 228140 |
| OMIM Id: |
603829
612956 |
| ICD-10: |
I49.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant 19285295 [IBIS] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic cardiac rhythm disease
-Rare cardiac disease -Rare genetic disease |
Comment:
| In patients with non-Brugada type idiopathic ventricular fibrillation (VF), ECG shows prominent J wave in the inferior leads (PMID:15028073). Up to now, two genes are known to be involved in this disease: SCN5A is associated with type 1 (VF1) and DPP6 is associated with type 2 (VF2) (PMID:19285295). |
Symptom Information:
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(HPO:0004751) | Paroxysmal ventricular tachycardia | Very frequent [IBIS] | 4834245 | IBIS | 5 / 7739 | |
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(HPO:0012272) | J wave | Frequent [IBIS] | 57% (n=64) | 25131664 | IBIS | 3 / 7739 |
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(HPO:0001645) | Sudden cardiac death | 19285295 | IBIS | 84 / 7739 | ||
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(HPO:0011703) | Sinus tachycardia | 4834245 | IBIS | 5 / 7739 | ||
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(HPO:0006682) | Ventricular extrasystoles | 4834245 | IBIS | 25 / 7739 | ||
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(HPO:0001663) | Ventricular fibrillation | 25131664 | IBIS | 35 / 7739 | ||
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(HPO:0001279) | Syncope | 4834245 | IBIS | 94 / 7739 | ||
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(MedDRA:10055032) | Electrocardiogram U-wave abnormality | 4834245 | IBIS | 2 / 7739 |
Associated genes:
| SCN5A; DPP6; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| CACNA1C | rs587782933 | likely pathogenic | RCV000143870.1 |
| DPP6 | rs606231226 | pathogenic | RCV000018285.29 |
| DSP | rs730880092 | likely pathogenic | RCV000157216.1 |
| RYR2 | rs190140598 | pathogenic | RCV000202619.1 |
| RYR2 | rs193922623 | likely pathogenic | RCV000157446.1 |
| RYR2 | rs730880200 | likely pathogenic | RCV000157469.1 |
| SCN5A | rs137854604 | pathogenic | RCV000058743.2 |
| SCN5A | rs137854604 | pathogenic | RCV000009981.2 |
| SCN5A | rs199473106 | pathogenic | RCV000058402.2 |