Ítem


Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances

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

MDPI (Multidisciplinary Digital Publishing Institute)

Autor: Fernández-Falgueras, Anna
Sarquella Brugada, Geòrgia
Brugada Terradellas, Josep
Brugada, Ramon
Campuzano Larrea, Oscar
Data: 29 gener 2017
Resum: 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
Format: application/pdf
Accés al document: http://hdl.handle.net/10256/13568
Llenguatge: eng
Editor: MDPI (Multidisciplinary Digital Publishing Institute)
Col·lecció: info:eu-repo/semantics/altIdentifier/doi/10.3390/biology6010007
info:eu-repo/semantics/altIdentifier/eissn/2079-7737
Drets: Attribution 4.0 Spain
URI Drets: http://creativecommons.org/licenses/by/4.0/es/
Matèria: Mort sobtada
Sudden death
Arítmia
Arrhythmia
Canals iònics
Ion channels
Genètica mèdica
Medical genetics
Canalopatíes
Channelopathies
Títol: Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances
Tipus: info:eu-repo/semantics/article
Repositori: DUGiDocs

Matèries

Autors