Cardiac response to water activities in children with Long QT syndrome type 1
by Anna Lundstr öm, Urban Wiklund, Annika Winbo, Håkan Eliasson, Marcus Karlsson, Annika Rydberg BackgroundSwimming is a genotype-specific trigger in long QT syndrome type 1 (LQT1). ObjectiveTo examine the autonomic response to water activities in children and adolescents with LQT1. MethodsIn this cross-sectional study, LQT1 patients were age and sex matched to one healthy control subject. Electrocardiograms (ECGs) were recorded during face immersion (FI), swimming, diving, and whole-body submersion (WBS). Heart rate (HR) and heart rate variability (HRV) was measured. The high frequency (HF) component of HRV was interpre...
Source: PLoS One - December 7, 2023 Category: Biomedical Science Authors: Anna Lundstr öm Source Type: research

Base editing therapy corrects long QT syndrome in mice
Nature Reviews Cardiology, Published online: 05 December 2023; doi:10.1038/s41569-023-00977-wGene therapy involving adenine base editing can correct a pathogenic variant in the Scn5a gene and alleviate arrhythmia phenotypes in a mouse model of long QT syndrome type 3. (Source: Nature Reviews Cardiology)
Source: Nature Reviews Cardiology - December 5, 2023 Category: Cardiology Authors: Irene Fern ández-Ruiz Source Type: research

Holter Electrocardiographic Approach to Predicting Outcomes of Pediatric Patients With Long QT Syndrome
CONCLUSIONS: The maximum Holter QTc value can be used to predict the appearance of symptoms in pediatric patients with LQTS.PMID:38044147 | DOI:10.1253/circj.CJ-23-0409 (Source: Circulation Journal)
Source: Circulation Journal - December 3, 2023 Category: Cardiology Authors: Masao Yoshinaga Yumiko Ninomiya Yuji Tanaka Megumi Fukuyama Koichi Kato Seiko Ohno Minoru Horie Hiromitsu Ogata Source Type: research

Andersen-Tawil syndrome: A long QT syndrome with variable expression
Med Clin (Barc). 2023 Dec 2:S0025-7753(23)00671-1. doi: 10.1016/j.medcli.2023.10.021. Online ahead of print.NO ABSTRACTPMID:38044185 | DOI:10.1016/j.medcli.2023.10.021 (Source: Medicina Clinica)
Source: Medicina Clinica - December 3, 2023 Category: General Medicine Authors: Paula de Vera McMullan Elena Corella Aznar Miguel Ángel Granados Ruiz Source Type: research

Holter Electrocardiographic Approach to Predicting Outcomes of Pediatric Patients With Long QT Syndrome
CONCLUSIONS: The maximum Holter QTc value can be used to predict the appearance of symptoms in pediatric patients with LQTS.PMID:38044147 | DOI:10.1253/circj.CJ-23-0409 (Source: Circulation Journal)
Source: Circulation Journal - December 3, 2023 Category: Cardiology Authors: Masao Yoshinaga Yumiko Ninomiya Yuji Tanaka Megumi Fukuyama Koichi Kato Seiko Ohno Minoru Horie Hiromitsu Ogata Source Type: research

Andersen-Tawil syndrome: A long QT syndrome with variable expression
Med Clin (Barc). 2023 Dec 2:S0025-7753(23)00671-1. doi: 10.1016/j.medcli.2023.10.021. Online ahead of print.NO ABSTRACTPMID:38044185 | DOI:10.1016/j.medcli.2023.10.021 (Source: Medicina Clinica)
Source: Medicina Clinica - December 3, 2023 Category: General Medicine Authors: Paula de Vera McMullan Elena Corella Aznar Miguel Ángel Granados Ruiz Source Type: research

Holter Electrocardiographic Approach to Predicting Outcomes of Pediatric Patients With Long QT Syndrome
CONCLUSIONS: The maximum Holter QTc value can be used to predict the appearance of symptoms in pediatric patients with LQTS.PMID:38044147 | DOI:10.1253/circj.CJ-23-0409 (Source: Circulation Journal)
Source: Circulation Journal - December 3, 2023 Category: Cardiology Authors: Masao Yoshinaga Yumiko Ninomiya Yuji Tanaka Megumi Fukuyama Koichi Kato Seiko Ohno Minoru Horie Hiromitsu Ogata Source Type: research

Andersen-Tawil syndrome: A long QT syndrome with variable expression
Med Clin (Barc). 2023 Dec 2:S0025-7753(23)00671-1. doi: 10.1016/j.medcli.2023.10.021. Online ahead of print.NO ABSTRACTPMID:38044185 | DOI:10.1016/j.medcli.2023.10.021 (Source: Medicina Clinica)
Source: Medicina Clinica - December 3, 2023 Category: General Medicine Authors: Paula de Vera McMullan Elena Corella Aznar Miguel Ángel Granados Ruiz Source Type: research

Epicardial arrhythmogenic substrate in long QT syndrome
The advent of transseptal puncture has enabled the study of atrial fibrillation mechanisms, while epicardial access has enabled exploration of the epicardium in ventricular arrhythmias (ventricular tachycardia/ventricular fibrillation [VF]).1,2 This has uncovered the electrophysiological signature of various cardiogenetic disorders within the epicardium. Promising therapeutic strategies for managing inherited arrhythmogenic cardiomyopathies, such as Brugada syndrome (BrS), long QT syndrome (LQTS), and early repolarization syndrome, have emerged (Figure  1 and Online Supplemental Figure 1). (Source: Heart Rhythm)
Source: Heart Rhythm - November 29, 2023 Category: Cardiology Authors: Carlo Pappone, Giuseppe Ciconte, Gabriele Vicedomini, Luigi Anastasia, Vincenzo Santinelli Tags: Viewpoint Source Type: research

KCNH2A561V Heterozygous Mutation Inhibits KCNH2 Protein Expression via The Activation of UPR Mediated by ATF6
Physiol Res. 2023 Nov 28;72(5):621-631.ABSTRACTThe potassium channel protein KCNH2 is encoded by KCNH2 gene, and there are more than 300 mutations of KCNH2. Unfolded protein response (UPR) is typically initiated in response to an accumulation of unfolded and/or misfolded proteins in the endoplasmic reticulum (ER). The present study aimed to explore the UPR process and the role of activating transcription factor 6 (ATF6) in the abnormal expression of potassium voltage-gated channel subfamily H member 2 (KCNH2)A561V. The wild-type (wt) KCNH2 and A561V mutant KCNH2 was constructed with his-tag. The 293 cells were used and div...
Source: Physiological Research - November 28, 2023 Category: Physiology Authors: B Chen L Tan D Chen X Wang J Liu X Huang Y Wang S Huang F Mao J Lian Source Type: research

KCNH2A561V Heterozygous Mutation Inhibits KCNH2 Protein Expression via The Activation of UPR Mediated by ATF6
Physiol Res. 2023 Nov 28;72(5):621-631.ABSTRACTThe potassium channel protein KCNH2 is encoded by KCNH2 gene, and there are more than 300 mutations of KCNH2. Unfolded protein response (UPR) is typically initiated in response to an accumulation of unfolded and/or misfolded proteins in the endoplasmic reticulum (ER). The present study aimed to explore the UPR process and the role of activating transcription factor 6 (ATF6) in the abnormal expression of potassium voltage-gated channel subfamily H member 2 (KCNH2)A561V. The wild-type (wt) KCNH2 and A561V mutant KCNH2 was constructed with his-tag. The 293 cells were used and div...
Source: Physiological Research - November 28, 2023 Category: Physiology Authors: B Chen L Tan D Chen X Wang J Liu X Huang Y Wang S Huang F Mao J Lian Source Type: research