Torsade-de-pointes syndrome with short coupling interval
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Torsade de pointes, short coupled variant |
| Number of Symptoms | 10 |
| OrphanetNr: | 51084 |
| OMIM Id: |
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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: |
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| 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:
| Short-coupled torsade de pointes is a very rare variant of polymorphic ventricular tachycardia, characterized by an extremely short coupling interval, but normal QTc interval and without demonstrable structural heart disease. |
Symptom Information:
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(HPO:0001664) | Torsade de pointes | Very frequent [IBIS] | 100% (n=14) | 8281648 | IBIS | 15 / 7739 |
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(HPO:0002321) | Vertigo | 18711611 | IBIS | 58 / 7739 | ||
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(HPO:0000822) | Hypertension | 20666275 | IBIS | 224 / 7739 | ||
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(HPO:0001663) | Ventricular fibrillation | Frequent [IBIS] | 71% (n=14) | 8281648 | IBIS | 35 / 7739 |
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(HPO:0006682) | Ventricular extrasystoles | 20666275 | IBIS | 25 / 7739 | ||
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(HPO:0004756) | Ventricular tachycardia | 8281648 | IBIS | 55 / 7739 | ||
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(HPO:0001645) | Sudden cardiac death | Occasional [IBIS] | 29% (n=14) | 8281648 | IBIS | 84 / 7739 |
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(HPO:0004308) | Ventricular arrhythmia | 8281648 | IBIS | 46 / 7739 | ||
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(HPO:0001279) | Syncope | Very frequent [IBIS] | 100% (n=14) | 8281648 | IBIS | 94 / 7739 |
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(HPO:0001695) | Cardiac arrest | 20666275 | IBIS | 87 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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