Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances
dc.contributor.author
dc.date.accessioned
2017-02-08T07:41:12Z
dc.date.available
2017-02-08T07:41:12Z
dc.date.issued
2017-01-29
dc.identifier.uri
dc.description.abstract
Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals. Two groups of familial diseases are responsible for sudden cardiac death: cardiomyopathies (mainly hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) and channelopathies (mainly long QT syndrome, Brugada syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia). This review focuses on cardiac channelopathies, which are characterized by lethal arrhythmias in the structurally normal heart, incomplete penetrance, and variable expressivity. Arrhythmias in these diseases result from pathogenic variants in genes encoding cardiac ion channels or associated proteins. Due to a lack of gross structural changes in the heart, channelopathies are often considered as potential causes of death in otherwise unexplained forensic autopsies. The asymptomatic nature of channelopathies is cause for concern in family members who may be carrying genetic risk factors, making the identification of these genetic factors of significant clinical importance
dc.format.mimetype
application/pdf
dc.language.iso
eng
dc.publisher
MDPI (Multidisciplinary Digital Publishing Institute)
dc.relation.isformatof
Reproducció digital del document publicat a: http://dx.doi.org/10.3390/biology6010007
dc.relation.ispartof
Biology, 2017, vol. 6, núm 1, art. 7
dc.relation.ispartofseries
Articles publicats (D-CM)
dc.rights
Attribution 4.0 Spain
dc.rights.uri
dc.subject
dc.title
Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances
dc.type
info:eu-repo/semantics/article
dc.rights.accessRights
info:eu-repo/semantics/openAccess
dc.embargo.terms
Cap
dc.type.version
info:eu-repo/semantics/publishedVersion
dc.identifier.doi
dc.identifier.eissn
2079-7737