Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a very rare genetic cardiac channelopathy, which has not been sufficiently studied yet. The first clinical manifestation has been described during the first decade of life, linked to strenuous exercise or acute emotion. The absence of structural heart disease and a family history of possible arrhythmogenic disorder generally guide the diagnosis towards a potential channelopathy. The opportunity to perform an extensive genetic analysis allows physicians to make the correct diagnosis and to optimize clinical management. The identification of more CPVT cases could affirm what we already know and primarily implement the current knowledge.
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Data di pubblicazione: | 2017 | |
Titolo: | A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics | |
Autori: | Del Franco, Annamaria; Gualandi, Francesca; Malagù, Michele; Ferlini, Alessandra; Xiao, Dang; Ferrari, Roberto; Bertini, Matteo | |
Rivista: | CARDIOLOGY | |
Parole Chiave: | Channelopathy; Genetics; Ventricular arrhythmia | |
Abstract: | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a very rare genetic cardiac channelopathy, which has not been sufficiently studied yet. The first clinical manifestation has been described during the first decade of life, linked to strenuous exercise or acute emotion. The absence of structural heart disease and a family history of possible arrhythmogenic disorder generally guide the diagnosis towards a potential channelopathy. The opportunity to perform an extensive genetic analysis allows physicians to make the correct diagnosis and to optimize clinical management. The identification of more CPVT cases could affirm what we already know and primarily implement the current knowledge. | |
Digital Object Identifier (DOI): | 10.1159/000475461 | |
Handle: | http://hdl.handle.net/11392/2375714 | |
Appare nelle tipologie: | 03.1 Articolo su rivista |