European heart rhythm association (EHRA)/heart rhythm society (HRS)/Asia pacific heart rhythm society (APHRS)/latin American heart rhythm society (LAHRS) expert …

AAM Wilde, C Semsarian, MF Márquez, AS Shamloo… - Europace, 2022 - academic.oup.com
Purpose Genetic testing has advanced significantly since the publication of the 2011
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the …

Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome

JC Hancox, CY Du, A Butler… - … of the Royal …, 2023 - royalsocietypublishing.org
The congenital short QT syndrome (SQTS) is a rare condition characterized by abbreviated
rate-corrected QT (QTc) intervals on the electrocardiogram and by increased susceptibility to …

Epidemiology of inherited arrhythmias

JA Offerhaus, CR Bezzina, AAM Wilde - Nature Reviews Cardiology, 2020 - nature.com
The primary electrical disorders are a group of inherited cardiac ventricular arrhythmias that
are a major cause of sudden cardiac death in young individuals. Inherited ventricular …

Role of ion channels in heart failure and channelopathies

AK Rahm, P Lugenbiel, PA Schweizer, HA Katus… - Biophysical …, 2018 - Springer
Heart failure (HF) is a complication of multiple cardiac diseases and is characterized by
impaired contractile and electric function. Patients with HF are not only limited by reduced …

Diagnosis and management of short QT syndrome

P Bjerregaard - Heart Rhythm, 2018 - Elsevier
Establishing a definition of short QT syndrome (SQTS), including symptomatology and QT-
interval duration, is still a work in progress. However, it is clear, that SQTS is a rare, life …

Cardiac delayed rectifier potassium channels in health and disease

L Chen, KJ Sampson, RS Kass - Cardiac …, 2016 - cardiacep.theclinics.com
Cardiac action potentials are characterized by an initial depolarization followed by a
prolonged depolarization, or plateau phase, before a return to the resting potential. In these …

Long qt syndrome and sinus bradycardia–a mini review

R Wilders, AO Verkerk - Frontiers in cardiovascular medicine, 2018 - frontiersin.org
Congenital long-QT syndrome (LQTS) is an inherited cardiac disorder characterized by the
prolongation of ventricular repolarization, susceptibility to Torsades de Pointes (TdP), and a …

Transgenic short-QT syndrome 1 rabbits mimic the human disease phenotype with QT/action potential duration shortening in the atria and ventricles and increased …

KE Odening, I Bodi, G Franke, R Rieke… - European heart …, 2019 - academic.oup.com
Abstract Aims Short-QT syndrome 1 (SQT1) is an inherited channelopathy with accelerated
repolarization due to gain-of-function in HERG/I Kr. Patients develop atrial fibrillation …

Modeling mutation-specific arrhythmogenic phenotypes in isogenic human iPSC-derived cardiac tissues

TL Maurissen, M Kawatou, V López-Dávila… - Scientific Reports, 2024 - nature.com
Disease modeling using human induced pluripotent stem cells (hiPSCs) from patients with
genetic disease is a powerful approach for dissecting pathophysiology and drug discovery …

Emerging therapeutic targets in the short QT syndrome

JC Hancox, DG Whittaker, C Du, AG Stuart… - Expert opinion on …, 2018 - Taylor & Francis
ABSTRACT Introduction: Short QT Syndrome (SQTS) is a rare but dangerous condition
characterised by abbreviated repolarisation, atrial and ventricular arrhythmias and risk of …