A novel variant of RyR2 gene in a family misdiagnosed as congenital long QT syndrome: The importance of genetic testing
| Autor: | Polyxeni Gourzi, Louiza Lioni, Antonios Sideris, Konstantinos P. Letsas, Dimitrios Degiannis, Efstathia Prappa, Malena P. Pantou, George Bazoukis |
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| Rok vydání: | 2020 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Long QT syndrome 030204 cardiovascular system & hematology Catecholaminergic polymorphic ventricular tachycardia Ryanodine receptor 2 Sudden cardiac death 03 medical and health sciences Electrocardiography 0302 clinical medicine medicine Humans cardiovascular diseases 030212 general & internal medicine Genetic Testing Diagnostic Errors Gene Genetic testing medicine.diagnostic_test business.industry Clinical course Ryanodine Receptor Calcium Release Channel medicine.disease Congenital long QT syndrome Long QT Syndrome cardiovascular system Tachycardia Ventricular Cardiology and Cardiovascular Medicine business |
| Zdroj: | Journal of electrocardiology. 60 |
| ISSN: | 1532-8430 |
| Popis: | Catecholaminergic polymorphic ventricular tachycardia (CPVT) and Long-QT syndrome (LQTS) are two distinct entities with similar clinical presentation and management but different clinical course. In this study, we present two family members presented with aborted sudden cardiac death (SCD) that was attributed to CPVT. The CPVT may be underrecognized in SCD victims and a diagnosis of "atypical LQTS" may warrant consideration of CPVT and analysis of RyR2 if the standard cardiac channel gene screen for LQTS is negative. Although the management of both channelopathies is quite common the clinical outcomes are different, with CPVT displaying a more malignant clinical course. |
| Databáze: | OpenAIRE |
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