His bundle tachycardia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
JET Junctional ectopic tachycardia congenital junctional ectopic tachycardia |
| Number of Symptoms | 22 |
| OrphanetNr: | 3283 |
| OMIM Id: |
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| ICD-10: |
I47.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
233901002 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
Neonatal Infancy 17885482 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic cardiac rhythm disease
-Rare cardiac disease -Rare genetic disease |
Comment:
| His bundle tachycardia is an extremely rare supraventricular arrhythmia in infants and children that can lead to hemodynamic collapse (PMID:17885482). The congenital form usually occurs in the first six months of life presenting as a persistent sustained form with high mortality rate. (PMID:16943912). TNNI3K gene has been discovered as a cause of familial conduction system disease and congenital junctional ectopic tachycardia (25791106). |
Symptom Information:
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(HPO:0002013) | Vomiting | 17885482 | IBIS | 191 / 7739 | ||
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(HPO:0001640) | Cardiomegaly | 9326696 | IBIS | 81 / 7739 | ||
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(HPO:0001631) | Atria septal defect | 23373720 | IBIS | 274 / 7739 | ||
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(HPO:0001684) | Secundum atrial septal defect | 12117855 | IBIS | 14 / 7739 | ||
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(HPO:0001713) | Abnormality of cardiac ventricle | 10065037 | IBIS | 4 / 7739 | ||
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(HPO:0005162) | Left ventricular failure | Frequent [IBIS] | 16943912 | IBIS | 18 / 7739 | |
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(HPO:0001629) | Ventricular septal defect | 12117855 | IBIS | 316 / 7739 | ||
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(HPO:0001653) | Mitral regurgitation | 17885482 | IBIS | 64 / 7739 | ||
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(HPO:0001638) | Cardiomyopathy | Frequent [Orphanet] | 22167724 | IBIS | 192 / 7739 | |
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(HPO:0001644) | Dilated cardiomyopathy | Occasional [IBIS] | 22167724 | IBIS | 141 / 7739 | |
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(HPO:0011675) | Arrhythmia | Very frequent [IBIS] Very frequent [Orphanet] | 16943912 | IBIS | 226 / 7739 | |
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(HPO:0011709) | Atrioventricular dissociation | 17885482 | IBIS | 3 / 7739 | ||
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(HPO:0004752) | Congenital atrioventricular dissociation | Very frequent [IBIS] | 96% (n=26) | 2184944 | IBIS | 3 / 7739 |
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(HPO:0005115) | Supraventricular arrhythmia | 16943912 | IBIS | 13 / 7739 | ||
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(HPO:0011716) | Junctional ectopic tachycardia | Very frequent [IBIS] | 2184944 | IBIS | 1 / 7739 | |
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(HPO:0001649) | Tachycardia | Very frequent [IBIS] | 2184944 | IBIS | 53 / 7739 | |
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(HPO:0001635) | Congestive heart failure | Frequent [IBIS] | 16943912 | IBIS | 232 / 7739 | |
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(HPO:0001645) | Sudden cardiac death | 2184944 | IBIS | 84 / 7739 | ||
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(HPO:0001254) | Lethargy | 17885482 | IBIS | 104 / 7739 | ||
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(HPO:0000961) | Cyanosis | 10065037 | IBIS | 60 / 7739 | ||
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(HPO:0002789) | Tachypnea | 17885482 | IBIS | 48 / 7739 | ||
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(HPO:0001789) | Hydrops fetalis | Occasional [IBIS] | 16943912 | IBIS | 63 / 7739 |
Associated genes:
| TNNI3K; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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