Basic and clinical insights in catecholaminergic (familial) polymorphic ventricular tachycardia
Rev. invest. clín
;
71(4): 226-236, Jul.-Aug. 2019. tab, graf
Article
in English
| 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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Death, Sudden, Cardiac
/
Tachycardia, Ventricular
/
Defibrillators, Implantable
Type of study:
Diagnostic study
/
Practice guideline
/
Prognostic study
Limits:
Humans
Language:
English
Journal:
Rev. invest. clín
Journal subject:
Medicine
Year:
2019
Type:
Article
Affiliation country:
Mexico
Institution/Affiliation country:
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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