Calcium-release channels: structure and function of IP3 receptors and ryanodine receptors

KA Woll, F Van Petegem - Physiological Reviews, 2022 - journals.physiology.org
Ca2+-release channels are giant membrane proteins that control the release of Ca2+ from
the endoplasmic and sarcoplasmic reticulum. The two members, ryanodine receptors …

Inherited cardiac arrhythmias

PJ Schwartz, MJ Ackerman, C Antzelevitch… - Nature reviews Disease …, 2020 - nature.com
The main inherited cardiac arrhythmias are long QT syndrome, short QT syndrome,
catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome. These rare …

An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome

A Adler, V Novelli, AS Amin, E Abiusi, M Care… - Circulation, 2020 - ahajournals.org
Background: Long QT syndrome (LQTS) is the first described and most common inherited
arrhythmia. Over the last 25 years, multiple genes have been reported to cause this …

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 …

2021 PACES expert consensus statement on the indications and management of cardiovascular implantable electronic devices in pediatric patients: Developed in …

MJ Shah, MJ Silka, JNA Silva, S Balaji… - Cardiology in the …, 2021 - cambridge.org
In view of the increasing complexity of both cardiovascular implantable electronic devices
(CIEDs) and patients in the current era, practice guidelines, by necessity, have become …

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 …

RNA modifications in cardiovascular health and disease

A Gatsiou, K Stellos - Nature Reviews Cardiology, 2023 - nature.com
RNA is not always a faithful copy of DNA. Advances in tools enabling the interrogation of the
exact RNA sequence have permitted revision of how genetic information is transferred. We …

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry

L Crotti, C Spazzolini, M Nyegaard… - European heart …, 2023 - academic.oup.com
Aims Calmodulinopathy due to mutations in any of the three CALM genes (CALM1–3)
causes life-threatening arrhythmia syndromes, especially in young individuals. The …

Structural analyses of human ryanodine receptor type 2 channels reveal the mechanisms for sudden cardiac death and treatment

MC Miotto, G Weninger, H Dridi, Q Yuan, Y Liu… - Science …, 2022 - science.org
Ryanodine receptor type 2 (RyR2) mutations have been linked to an inherited form of
exercise-induced sudden cardiac death called catecholaminergic polymorphic ventricular …

[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 …