Abstract

MARQUEZ, Manlio F. et al. Basic and Clinical Insights in Catecholaminergic (Familial) Polymorphic Ventricular Tachycardia. Rev. invest. clín. [online]. 2019, vol.71, n.4, pp.226-236.  Epub Apr 12, 2021. ISSN 2564-8896.  https://doi.org/10.24875/ric.19002939.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially lethal disease, whose characteristic ventricular tachycardias are adrenergic-dependent. Although rare, CPVT should be considered in the differential diagnosis of young individuals with exercise-induced syncope. Mutations in five different genes (RYR2, CASQ2, CALM1, TRDN, and TECRL) are associated with the CPVT phenotype, although RYR2 missense mutations are implicated in up to 60 % of all CPVT cases. Genetic testing has an essential role in the diagnosis, management, pre-symptomatic diagnosis, counseling, and treatment of the proband; furthermore, genetic information can be useful for offspring and relatives. By expert consensus, CPVT gene testing is a Class I recommendation for patients with suspected CPVT. Beta-adrenergic and calcium-channel blockers are the cornerstones of treatment due to the catecholaminergic dependence of the arrhythmias. Unresponsive patients are treated with an implantable cardioverter-defibrillator to reduce the risk of sudden cardiac death. In the present article, a brief review of the genetic and molecular mechanisms of this intriguing disease is provided.

Keywords : Sudden cardiac death; Syncope; Exercise; Catecholaminergic polymorphic ventricular tachycardia; Genetic testing; Beta-blockers; Calcium channel blockers.

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