scholarly journals The Long QT Syndrome: Ion Channel Diseases of the Heart

1998 ◽  
Vol 73 (3) ◽  
pp. 250-269 ◽  
Author(s):  
Michael J. Ackerman
2017 ◽  
Vol 158 (3) ◽  
pp. 101-105 ◽  
Author(s):  
Péter Blazsó ◽  
Kornél Kákonyi ◽  
Tamás Forster ◽  
Róbert Sepp

Abstract: The Szeged cardiomyopathy and ion channel diseases registry aims to establish a representative disease-specific registry based on the recruitment of patients with different cardiomyopathies and ion channel diseases followed at the Cardiology Center, University of Szeged. The registry collects patient data on the main forms of primary cardiomyopathies (hypertrophic, dilated, restrictive, arrhythmogenic right ventricular, left ventricular non-compact, tako-tsubo cardiomyopathy) and ion channel diseases (long QT syndrome, short QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia). Patients with hypertrophic cardiomyopathy (388 patients) make up the largest group of patients in the registry. Patients with dilated cardiomyopathy (310 patients) and patients with the long QT syndrome (111 patients) form two other sizable groups. Analyzed data of the group of patients with hypertrophic cardiomyopathy indicate similar figures with regard to disease related mortality and morbidity and clinical parameters. Orv. Hetil., 2017, 158(3), 101–105.


2003 ◽  
Vol 7 (3) ◽  
pp. 249-253 ◽  
Author(s):  
Li Ning ◽  
Arthur Moss ◽  
Woject Zareba ◽  
Jennifer Robinson ◽  
Spencer Rosero ◽  
...  

2012 ◽  
Vol 2012 ◽  
pp. 1-28 ◽  
Author(s):  
Ronald Wilders

The sudden infant death syndrome (SIDS) causes the sudden death of an apparently healthy infant, which remains unexplained despite a thorough investigation, including the performance of a complete autopsy. The triple risk model for the pathogenesis of SIDS points to the coincidence of a vulnerable infant, a critical developmental period, and an exogenous stressor. Primary electrical diseases of the heart, which may cause lethal arrhythmias as a result of dysfunctioning cardiac ion channels (“cardiac ion channelopathies”) and are not detectable during a standard postmortem examination, may create the vulnerable infant and thus contribute to SIDS. Evidence comes from clinical correlations between the long QT syndrome and SIDS as well as genetic analyses in cohorts of SIDS victims (“molecular autopsy”), which have revealed a large number of mutations in ion channel-related genes linked to inheritable arrhythmogenic syndromes, in particular the long QT syndrome, the short QT syndrome, the Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. Combining data from population-based cohort studies, it can be concluded that at least one out of five SIDS victims carries a mutation in a cardiac ion channel-related gene and that the majority of these mutations are of a known malignant phenotype.


Gene ◽  
2012 ◽  
Vol 511 (1) ◽  
pp. 26-33 ◽  
Author(s):  
Parwez Aidery ◽  
Jana Kisselbach ◽  
Patrick A. Schweizer ◽  
Rüdiger Becker ◽  
Hugo A. Katus ◽  
...  

Heart Rhythm ◽  
2012 ◽  
Vol 9 (1) ◽  
pp. 49-56 ◽  
Author(s):  
Ilan Goldenberg ◽  
Princy Thottathil ◽  
Coeli M. Lopes ◽  
Arthur J. Moss ◽  
Scott McNitt ◽  
...  

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