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 …

2024 HRS expert consensus statement on arrhythmias in the athlete: evaluation, treatment, and return to play

R Lampert, EH Chung, MJ Ackerman, AR Arroyo… - Heart Rhythm, 2024 - Elsevier
Youth and adult participation in sports continues to increase, and athletes may be
diagnosed with potentially arrhythmogenic cardiac conditions. This international …

Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

R Walsh, A Adler, AS Amin, E Abiusi… - European heart …, 2022 - academic.oup.com
Aims Catecholaminergic polymorphic ventricular tachycardia (CPVT) and short QT
syndrome (SQTS) are inherited arrhythmogenic disorders that can cause sudden death …

Cardiac ryanodine receptor calcium release deficiency syndrome

B Sun, J Yao, M Ni, J Wei, X Zhong, W Guo… - Science translational …, 2021 - science.org
Cardiac ryanodine receptor (RyR2) gain-of-function mutations cause catecholaminergic
polymorphic ventricular tachycardia, a condition characterized by prominent ventricular …

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

R Walsh, F Mazzarotto, N Whiffin, R Buchan… - Genome Medicine, 2019 - Springer
Background International guidelines for variant interpretation in Mendelian disease set
stringent criteria to report a variant as (likely) pathogenic, prioritising control of false-positive …

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 …

Precision Medicine in Catecholaminergic Polymorphic Ventricular Tachycardia: JACC Focus Seminar 5/5

SG Priori, A Mazzanti, DJ Santiago, D Kukavica… - Journal of the American …, 2021 - jacc.org
In this final of a 5-part Focus Seminar series on precision medicine, we focus on
catecholaminergic polymorphic ventricular tachycardia (CPVT). This focus on CPVT allows …

Intracellular calcium leak as a therapeutic target for RYR1-related myopathies

A Kushnir, JJ Todd, JW Witherspoon, Q Yuan… - Acta …, 2020 - Springer
RYR1 encodes the type 1 ryanodine receptor, an intracellular calcium release channel
(RyR1) on the skeletal muscle sarcoplasmic reticulum (SR). Pathogenic RYR1 variations …

Outcomes of patients with catecholaminergic polymorphic ventricular tachycardia treated with β-blockers

A Mazzanti, D Kukavica, A Trancuccio… - JAMA …, 2022 - jamanetwork.com
Importance Patients with catecholaminergic polymorphic ventricular tachycardia (CPVT)
may experience life-threatening arrhythmic events (LTAEs) despite β-blocker treatment …

Clinical and functional characterization of ryanodine receptor 2 variants implicated in calcium-release deficiency syndrome

TM Roston, J Wei, W Guo, Y Li, X Zhong… - JAMA …, 2022 - jamanetwork.com
Importance Calcium-release deficiency syndrome (CRDS), which is caused by loss-of-
function variants in cardiac ryanodine receptor 2 (RyR2), is an emerging cause of ventricular …