Congenital long QT syndrome type 3

Yanfei Ruan; Nian Liu; Rong Bai; Silvia G. Priori; Carlo Napolitano

doi:10.1016/j.ccep.2014.07.007

Congenital long QT syndrome type 3

Yanfei Ruan, Nian Liu, Rong Bai, Silvia G. Priori, Carlo Napolitano

Istituti Clinici Scientifici Maugeri Spa – Società Benefit

Research output: Contribution to journal › Article › peer-review

Abstract

Long QT syndrome type 3 (LQT3) is caused by mutations of the SCN5A gene encoding the α-subunit of the human cardiac sodium channel. Specific ST-T wave patterns, triggers, and risk for cardiac events are associated with this LQTS variant. Bench studies have gathered enough knowledge to devise gene-specific therapies to specifically counteract the effects of the mutations. In this article, the authors delineate the LQT3 pathophysiology and epidemiology. They also discuss the clinical management with a focus on the appropriate use of gene-specific therapy.

Original language	English
Pages (from-to)	705-713
Number of pages	9
Journal	Cardiac Electrophysiology Clinics
Volume	6
Issue number	4
DOIs	https://doi.org/10.1016/j.ccep.2014.07.007
Publication status	Published - Dec 1 2014

Keywords

Electrophysiology
Genetics
Ion channel
Long QT syndrome
Pharmacology
Sodium

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine
Physiology (medical)

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10.1016/j.ccep.2014.07.007

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abstract = "Long QT syndrome type 3 (LQT3) is caused by mutations of the SCN5A gene encoding the α-subunit of the human cardiac sodium channel. Specific ST-T wave patterns, triggers, and risk for cardiac events are associated with this LQTS variant. Bench studies have gathered enough knowledge to devise gene-specific therapies to specifically counteract the effects of the mutations. In this article, the authors delineate the LQT3 pathophysiology and epidemiology. They also discuss the clinical management with a focus on the appropriate use of gene-specific therapy.",

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AU - Ruan, Yanfei

AU - Liu, Nian

AU - Bai, Rong

AU - Priori, Silvia G.

AU - Napolitano, Carlo

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AB - Long QT syndrome type 3 (LQT3) is caused by mutations of the SCN5A gene encoding the α-subunit of the human cardiac sodium channel. Specific ST-T wave patterns, triggers, and risk for cardiac events are associated with this LQTS variant. Bench studies have gathered enough knowledge to devise gene-specific therapies to specifically counteract the effects of the mutations. In this article, the authors delineate the LQT3 pathophysiology and epidemiology. They also discuss the clinical management with a focus on the appropriate use of gene-specific therapy.

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KW - Pharmacology

KW - Sodium

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