[PDF][PDF] From gene-discovery to gene-tailored clinical management: 25 years of research in channelopathies and cardiomyopathies

L Crotti, P Brugada, H Calkins, P Chevalier, G Conte… - Europace, 2023 - academic.oup.com
In the early nineties, few years before the birth of Europace, the clinical and scientific world
of familial arrhythmogenic conditions was revolutionized by the identification of the first …

Role of Ca2+ in healthy and pathologic cardiac function: from normal excitation–contraction coupling to mutations that cause inherited arrhythmia

JA Keefe, OM Moore, KS Ho, XHT Wehrens - Archives of toxicology, 2023 - Springer
Abstract Calcium (Ca2+) ions are a key second messenger involved in the rhythmic
excitation and contraction of cardiomyocytes throughout the heart. Proper function of Ca2+ …

[HTML][HTML] Catecholaminergic polymorphic ventricular tachycardia

C Napolitano, A Mazzanti, R Bloise, SG Priori - 2022 - europepmc.org
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is characterized by episodic
syncope occurring during exercise or acute emotion. The underlying cause of these …

Molecular, subcellular, and arrhythmogenic mechanisms in genetic RyR2 disease

ED Fowler, S Zissimopoulos - Biomolecules, 2022 - mdpi.com
The ryanodine receptor (RyR2) has a critical role in controlling Ca2+ release from the
sarcoplasmic reticulum (SR) throughout the cardiac cycle. RyR2 protein has multiple …

Therapeutic approaches of ryanodine receptor-associated heart diseases

N Szentandrássy, ZÉ Magyar, J Hevesi… - International Journal of …, 2022 - mdpi.com
Cardiac diseases are the leading causes of death, with a growing number of cases
worldwide, posing a challenge for both healthcare and research. Therefore, the most …

RYR2-ryanodinopathies: from calcium overload to calcium deficiency

C Steinberg, TM Roston, C van der Werf, S Sanatani… - Europace, 2023 - academic.oup.com
The sarcoplasmatic reticulum (SR) cardiac ryanodine receptor/calcium release channel
RyR2 is an essential regulator of cardiac excitation–contraction coupling and intracellular …

How does flecainide impact RyR2 channel function?

SC Salvage, CLH Huang, JA Fraser… - Journal of General …, 2022 - rupress.org
Flecainide, a cardiac class 1C blocker of the surface membrane sodium channel (NaV1. 5),
has also been reported to reduce cardiac ryanodine receptor (RyR2)-mediated …

The genetics and epigenetics of ventricular arrhythmias in patients without structural heart disease

M Wang, X Tu - Frontiers in Cardiovascular Medicine, 2022 - frontiersin.org
Ventricular arrhythmia without structural heart disease is an arrhythmic disorder that occurs
in structurally normal heart and no transient or reversible arrhythmia factors, such as …

Epigenome alterations in food allergy: a systematic review of candidate gene and epigenome‐wide association studies

R Safar, A Oussalah, L Mayorga… - Clinical & …, 2023 - Wiley Online Library
Objective The aim of this study was to systematically review the evidence across studies that
assessed DNA methylome variations in association with food allergy (FA). Design A …

Genetics in probands with idiopathic ventricular fibrillation: a multicenter study

L Pannone, A Gauthey, G Conte, R Osei… - Clinical …, 2023 - jacc.org
Background Different genes have been associated with idiopathic ventricular fibrillation
(IVF); however, there are no studies correlating genotype with phenotype. Objectives The …