JCS/JHRS 2020 Guideline on Pharmacotherapy of Cardiac Arrhythmias
Journal of Arrhythmia, Volume 38, Issue 6, Page 833-973, December 2022.
Katsushige Ono +56 more
wiley +1 more source
Meta-analysis of T peak –T end and T peak –T end /QT ratio for risk stratification in congenital long QT syndrome [PDF]
Background and objectives: Congenital long QT syndrome (LQTS) predisposes affected individuals to ventricular tachycardia/fibrillation (VF/VF), potentially resulting in sudden cardiac death.
Baranchuk, Adrian M. +12 more
core +1 more source
Safety and efficacy of a 6-month home-based exercise program in patients with facioscapulohumeral muscular dystrophy [PDF]
Background: Previous randomized controlled trials investigating exercise training programs in facioscapulohumeral muscular dystrophy (FSHD) patients are scarce and of short duration only.
Antoine, Jean-Christophe +10 more
core +4 more sources
Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière +6 more
wiley +1 more source
Andersen-Tawil Syndrome Presenting with Complete Heart Block
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant neuromuscular disorder due to mutations in the KCNJ2 gene. The classical phenotype of ATS consists of a triad of periodic paralysis, cardiac conduction abnormalities and dysmorphic features.
Suetterlin K +10 more
openaire +5 more sources
Translating cardiovascular ion channel and Ca2+ signalling mechanisms into therapeutic insights
Abstract figure legend This white paper integrates mechanistic discoveries across ion channel biology, Ca2+ signalling and multiscale cardiovascular physiology to highlight new opportunities for accelerating research and guiding next‐generation therapies. Printed with permission from ®Anita Impagliazzo Medical Illustration. [Correction added on 2 March
Silvia Marchianò +18 more
wiley +1 more source
Andersen-Tawil Syndrome Presenting with Complete Heart Block [PDF]
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant neuromuscular disorder due to mutations in the KCNJ2 gene. The classical phenotype of ATS consists of a triad of periodic paralysis, cardiac conduction abnormalities and dysmorphic features ...
Fialho, D +10 more
core
ABSTRACT Aim An electrocardiogram is commonly recommended in breath‐holding spell management, mainly to rule out long QT syndrome. This retrospective study investigated the risk of long QT syndrome being misdiagnosed as breath‐holding spells in a paediatric population in southern Sweden.
Sanna Hellström Schmidt +3 more
wiley +1 more source
An inwardly rectifying K+ channel is required for patterning. [PDF]
Mutations that disrupt function of the human inwardly rectifying potassium channel KIR2.1 are associated with the craniofacial and digital defects of Andersen-Tawil Syndrome, but the contribution of Kir channels to development is undefined.
Bates, Emily +6 more
core
Opening closed inward rectifier potassium channel doors
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger +3 more
wiley +1 more source

