Cardiac Arrhythmias Related to Sodium Channel Dysfunction.
Handb Exp Pharmacol
; 246: 331-354, 2018.
Article
em En
| MEDLINE
| ID: mdl-28965168
ABSTRACT
The voltage-gated cardiac sodium channel (Nav1.5) is a mega-complex comprised of a pore-forming α subunit and 4 ancillary ß-subunits together with numerous protein partners. Genetic defects in the form of rare variants in one or more sodium channel-related genes can cause a loss- or gain-of-function of sodium channel current (INa) leading to the manifestation of various disease phenotypes, including Brugada syndrome, long QT syndrome, progressive cardiac conduction disease, sick sinus syndrome, multifocal ectopic Purkinje-related premature contractions, and atrial fibrillation. Some sodium channelopathies have also been shown to be responsible for sudden infant death syndrome (SIDS). Although these genetic defects often present as pure electrical diseases, recent studies point to a contribution of structural abnormalities to the electrocardiographic and arrhythmic manifestation in some cases, such as dilated cardiomyopathy. The same rare variants in SCN5A or related genes may present with different clinical phenotypes in different individuals and sometimes in members of the same family. Genetic background and epigenetic and environmental factors contribute to the expression of these overlap syndromes. Our goal in this chapter is to review and discuss what is known about the clinical phenotype and genotype of each cardiac sodium channelopathy, and to briefly discuss the underlying mechanisms.
Palavras-chave
Atrial fibrillation; Brugada syndrome; Dilated cardiomyopathy; Early repolarization syndrome; Inherited cardiac arrhythmia syndromes; J wave syndromes; Long QT syndrome; Multifocal ectopic Purkinje-related premature contractions; Overlap syndromes; Progressive conduction disease; Sick sinus syndrome; Sudden infant death syndrome
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Arritmias Cardíacas
/
Canal de Sódio Disparado por Voltagem NAV1.5
/
Mutação
Tipo de estudo:
Etiology_studies
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Handb Exp Pharmacol
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Estados Unidos