Ítem


Recent Advances in Short QT Syndrome

Short QT syndrome is a highly malignant inherited cardiac disease characterized by ventricular tachyarrhythmias leading to syncope and sudden cardiac death. It is responsible of lethal episodes in young people, mainly infants. International guidelines establish diagnostic criteria with the presence of a QTc ≤ 340 ms in the electrocardiogram despite clinical diagnostic values remain controversial. In last years, clinical diagnosis, risk stratification as well as preventive therapies have been improved due to identification of pathophysiological mechanisms. The only effective option is implantation of a defibrillator despite Quinidine may be at times an effective option. Currently, a limited number of rare variants have been identified in seven genes, which account for nearly 20-30% of families. However, some of these variants are associated with phenotypes showing a shorter QT interval but no conclusive diagnosis of Short QT syndrome. Therefore, an exhaustive interpretation of each variant and a close genotype-phenotype correlation is necessary before clinical translation. Here, we review the main clinical and genetic hallmarks of this rare entity

Autor: Campuzano Larrea, Oscar
Sarquella Brugada, Geòrgia
Cesar, Sergi
Arbelo, Elena
Brugada Terradellas, Josep
Brugada, Ramon
Data: 29 octubre 2018
Resum: Short QT syndrome is a highly malignant inherited cardiac disease characterized by ventricular tachyarrhythmias leading to syncope and sudden cardiac death. It is responsible of lethal episodes in young people, mainly infants. International guidelines establish diagnostic criteria with the presence of a QTc ≤ 340 ms in the electrocardiogram despite clinical diagnostic values remain controversial. In last years, clinical diagnosis, risk stratification as well as preventive therapies have been improved due to identification of pathophysiological mechanisms. The only effective option is implantation of a defibrillator despite Quinidine may be at times an effective option. Currently, a limited number of rare variants have been identified in seven genes, which account for nearly 20-30% of families. However, some of these variants are associated with phenotypes showing a shorter QT interval but no conclusive diagnosis of Short QT syndrome. Therefore, an exhaustive interpretation of each variant and a close genotype-phenotype correlation is necessary before clinical translation. Here, we review the main clinical and genetic hallmarks of this rare entity
Format: application/pdf
Accés al document: http://hdl.handle.net/10256/24244
Llenguatge: eng
Col·lecció: info:eu-repo/semantics/altIdentifier/doi/10.3389/fcvm.2018.00149
info:eu-repo/semantics/altIdentifier/eissn/2297-055X
Drets: Tots els drets reservats
URI Drets: http://creativecommons.org/licenses/by/4.0
Títol: Recent Advances in Short QT Syndrome
Tipus: info:eu-repo/semantics/article
Repositori: DUGiDocs

Matèries

Autors