Basic and clinical insights in catecholaminergic (familial) polymorphic ventricular tachycardia
Rev. invest. clín
;
71(4): 226-236, Jul.-Aug. 2019. tab, graf
Artículo
en Inglés
| LILACS
| ID: biblio-1289691
ABSTRACT
Abstract 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.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Muerte Súbita Cardíaca
/
Taquicardia Ventricular
/
Desfibriladores Implantables
Tipo de estudio:
Estudio diagnóstico
/
Guía de Práctica Clínica
/
Estudio pronóstico
Límite:
Humanos
Idioma:
Inglés
Revista:
Rev. invest. clín
Asunto de la revista:
Medicina
Año:
2019
Tipo del documento:
Artículo
País de afiliación:
México
Institución/País de afiliación:
Benemérita Universidad Autónoma de Puebla/MX
/
Hospital de Alta Especialidad del Bajío/MX
/
Instituto Nacional de Cardiología Ignacio Chávez/MX
/
Instituto Politécnico Nacional/MX
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