Atrial fibrillation, familial, 17
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ATFB17 LQT10 familial atrial fibrillation, 17 Long QT syndrome 10 |
| Number of Symptoms | 0 |
| OrphanetNr: | |
| OMIM Id: |
611819
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| ICD-10: |
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| 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 23604097 [IBIS] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Familial atrial fibrillation
-Rare cardiac disease -Rare genetic disease |
Comment:
| Atrial fibrillation (AF) is the most prevalent type of cardiac arrhythmia and is commonly associated with other cardiovascular disorders, but in up to 30% of cases there is no evidence of overt heart disease. This condition is called lone or idiopathic AF. About 15% of lone AF presents as familial disorder. (PMID:24333117, 23551519). ATFB17 is a sub-type of familial atrial fibrillation and is characterized by mutations (p.V162G, p.I166L) in the SCN4B gene (PMID:23604097). SCN4B is also associated with familial long QT syndrome 10, a sub-type of the Romano-Ward syndrome (PMID:17592081) or sudden infant death (PMID:20226894). This indicates that AF may share a common genetic origin with long QT syndrome as well as sudden infant death. For symptom annotation please refer to familial atrial fibrillation. |
Symptom Information:
Associated genes:
| SCN4B; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| SCN4B | rs587777559 | pathogenic | RCV000128816.2 |
| SCN4B | rs587777560 | pathogenic | RCV000128817.2 |