A novel variant of RyR2 gene in a family misdiagnosed as congenital long QT syndrome: The importance of genetic testing.

Autor: Letsas KP; Second Department of Cardiology, Arrhythmia Unit, 'Evangelismos' General Hospital of Athens, Greece., Prappa E; Second Department of Cardiology, Arrhythmia Unit, 'Evangelismos' General Hospital of Athens, Greece., Bazoukis G; Second Department of Cardiology, Arrhythmia Unit, 'Evangelismos' General Hospital of Athens, Greece. Electronic address: gbazoykis@yahoo.gr., Lioni L; Second Department of Cardiology, Arrhythmia Unit, 'Evangelismos' General Hospital of Athens, Greece., Pantou MP; Molecular Immunopathology and Histocompatibility Unit, Division of Genetics, Onassis Cardiac Surgery Center, Athens, Greece., Gourzi P; Molecular Immunopathology and Histocompatibility Unit, Division of Genetics, Onassis Cardiac Surgery Center, Athens, Greece., Degiannis D; Molecular Immunopathology and Histocompatibility Unit, Division of Genetics, Onassis Cardiac Surgery Center, Athens, Greece., Sideris A; Second Department of Cardiology, Arrhythmia Unit, 'Evangelismos' General Hospital of Athens, Greece.
Jazyk: angličtina
Zdroj: Journal of electrocardiology [J Electrocardiol] 2020 May - Jun; Vol. 60, pp. 8-11. Date of Electronic Publication: 2020 Mar 05.
DOI: 10.1016/j.jelectrocard.2020.03.001
Abstrakt: 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.
Competing Interests: Declaration of competing interest The authors declare no conflicts of interest.
(Copyright © 2020 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: