Long QT syndrome 6
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LQT3/6, DIGENIC, INCLUDED LONG QT SYNDROME 3/6, DIGENIC, INCLUDED LQT6 LONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO, INCLUDED LQT6 LQT6 |
| Number of Symptoms | 0 |
| OrphanetNr: | |
| OMIM Id: |
613693
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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 20301308 [IBIS] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Romano-Ward syndrome
-Rare cardiac disease -Rare genetic disease |
Comment:
| LQT6 is a sub-type of Romano-Ward syndrome, a variant of the familial long QT syndrome. For symptom annotation please refer to Romano-Ward syndrome. |
Symptom Information:
Associated genes:
| KCNE2; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| KCNE2 | rs74315447 | pathogenic | RCV000006425.2 |
| KCNE2 | rs74315448 | pathogenic | RCV000006426.2 |
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). |
| Clinical Description OMIM |
Abbott et al. (1999) reported a healthy 38-year-old Caucasian female who had had ventricular fibrillation while jogging. Her resuscitation required defibrillation. The results from echocardiography and cardiac catheterization with electrophysiologic studies and right ventricular biopsy were normal. Subsequent ... |
| Molecular genetics OMIM |
In 2 healthy females with LQT5, Abbott et al. (1999) identified heterozygosity for different missense mutations in the KCNE2 gene (603796.0002-603796.0003). In a 76-year-old African American female with acquired long QT syndrome, Abbott et al. (1999) ... |