| Autor: |
Mattia Petrungaro, Antonio Scarà, Alessio Borrelli, Luigi Sciarra |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
Journal of Cardiovascular Development and Disease, Vol 10, Iss 3, p 97 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2308-3425 |
| DOI: |
10.3390/jcdd10030097 |
| Popis: |
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rare electrical genetic disease characterized by ventricular polymorphic tachycardia and/or bidirectional ventricular tachycardia induced by the release of catecholamines caused by intense physical or emotional stress in structurally normal hearts. Mostly, it is caused by mutations in genes that are involved in calcium homeostasis, in particular in the gene encoding for cardiac ryanodine receptor (RyR2). Our observation is the first description of familial CPVT caused by mutation of the RyR2 gene, linked to the complete AV block. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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