ISSN: 0034-8376
eISSN: 2564-8896

Basic and Clinical Insights in Catecholaminergic (Familial) Polymorphic Ventricular Tachycardia

Manlio F. Márquez, Department of Electrophysiology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, Mexico
Armando Totomoch-Serra, Department of Genetics and Molecular Biology, Centro de Investigación y Estudios Avanzados del Instituto Politécnico Nacional, Mexico City, Mexico
Angélica Rueda, Biochemistry, Centro de Investigación y de Estudios Avanzados, Instituto Politécnico Nacional, Mexico City, México
José E. Avelino-Cruz, Laboratory of Molecular Cardiology, Institute of Physiology, Benemérita Universidad Autónoma de Puebla, Puebla, México
Antonio Gallegos-Cortez, Department of Electrophysiology, Hospital de Alta Especialidad del Bajío, León, Guanajuato, Mexico

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. (REV INVEST CLIN. 2019;71:226-36)

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