| Revista: | Revista de investigación clínica |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000454157 |
| ISSN: | 0034-8376 |
| Autores: | Márquez, Manlio F1 Totomoch Serra, Armando2 Rueda, Angélica3 Avelino Cruz, José E4 Gallegos Cortez, Antonio5 |
| Instituciones: | 1Instituto Nacional de Cardiología Ignacio Chávez, Departamento de Electrocardiología, Ciudad de México. México 2Instituto Politécnico Nacional, Escuela Nacional de Ciencias Biológicas, Ciudad de México. México 3Instituto Politécnico Nacional, Centro de Investigación y de Estudios Avanzados, Ciudad de México. México 4Benemérita Universidad Autónoma de Puebla, Instituto de Fisiología, Puebla. México 5Hospital de Alta Especialidad del Bajío, Departamento de Electrofisiología, León, Guanajuato. México |
| Año: | 2019 |
| Periodo: | Jul-Ago |
| Volumen: | 71 |
| Número: | 4 |
| Paginación: | 226-236 |
| País: | México |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Analítico, descriptivo |
| Resumen en inglés | 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 |
| Disciplinas: | Medicina |
| Palabras clave: | Sistema cardiovascular, Muerte súbita cardiaca, Síncope, Taquicardia ventricular polimórfica catecolaminérgica, Pruebas genéticas, Beta bloqueadores, Canales de calcio |
| Keyword: | Cardiovascular system, Sudden cardiac death, Syncope, Catecholaminergic polymorphic ventricular tachycardia, Genetic tests, Beta blockers, Calcium channels |
| Texto completo: | Texto completo (Ver HTML) Texto completo (Ver PDF) |
