Genética de la taquicardia ventricular polimorfa catecolaminérgica: conceptos básicos / Genetic of catecholaminergic polymorphic ventricular tachycardia: basic concepts
Arch. cardiol. Méx
;
79(supl.2): 13-17, dic. 2009. ilus
Artigo
em Espanhol
| LILACS
| ID: lil-565571
ABSTRACT
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a cardiac channelopathy characterized by altered intracellular calcium handling resulting in ventricular arrhythmias and high risk of cardiac sudden death in young cases with normal structural hearts. Patients present with exertional syncope and the trademark dysrhythmia is polymorphic and/or bidirectional ventricular tachycardia during exercise or adrenergic stimulation. Early detection of CPVT is crucial because opportune medical intervention prevents sudden cardiac death. Mutations in the ryanodine receptor RYR2 explain nearly 70% of the CPVT cases and cause the autosomic dominant form of the disease. Mutations in calsequestrin 2 causes a recessive form and explain less than 5% of all cases. Genetic screening in CPVT, besides providing early detection of asymptomatic carriers at risk, has provided important insights in the mechanism underlying the disease. Mutational analysis of RYR2 has been a challenge due to the large size of the gene, 105 exons encoded for 4,967 amino-acids. In this review we analyze general concepts of the disease, differential diagnosis and strategies for genetic screening.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Catecolaminas
/
Taquicardia Ventricular
Tipo de estudo:
Estudo de rastreamento
Limite:
Humanos
Idioma:
Espanhol
Revista:
Arch. cardiol. Méx
Assunto da revista:
Cardiologia
Ano de publicação:
2009
Tipo de documento:
Artigo
País de afiliação:
Estados Unidos
Instituição/País de afiliação:
Mayo Clinic/US
Similares
MEDLINE
...
LILACS
LIS