Long QT syndrome 9
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED LQT2/9, DIGENIC, INCLUDED LONG QT SYNDROME 2/9, DIGENIC, INCLUDED LQT9 LQT9 |
| Number of Symptoms | 0 |
| OrphanetNr: | |
| OMIM Id: |
611818
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant 20301308 [IBIS] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Romano-Ward syndrome
-Rare cardiac disease -Rare genetic disease |
Comment:
| LQT9 is a sub-type of Romano-Ward syndrome, a variant of the familial long QT syndrome. For symptom annotation refer to Romano-Ward syndrome. |
Symptom Information:
Associated genes:
| CAV3; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| CAV3 | rs104893713 | pathogenic | RCV000008788.3 |
| CAV3 | rs104893715 | pathogenic | RCV000008792.3 |
| CAV3 | rs121909281 | pathogenic | RCV000008793.2 |
| CAV3 | rs121909282 | pathogenic | RCV000008794.2 |
| CAV3 | rs72546668 | pathogenic | RCV000008790.2 |
Additional Information:
| Description: (OMIM) | Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncopes, seizure, or sudden death (Jongbloed et al., 1999). |
| Molecular genetics OMIM |
Vatta et al. (2006) analyzed the CAV3 gene (601253) in 905 unrelated patients with long QT syndrome who had previously been tested for mutations in known LQT genes; in 6 patients, they identified 4 heterozygous missense mutations (601253.0016-601253.0019, ... |