Ventricular arrhythmias and the His–Purkinje system

M Haissaguerre, E Vigmond, B Stuyvers… - Nature Reviews …, 2016 - nature.com
Ventricular arrhythmias are a major cause of sudden death, which accounts for
approximately half of cardiac mortality. The His–Purkinje system is composed of specialized …

Calcium handling defects and cardiac arrhythmia syndromes

K Kistamás, R Veress, B Horvath, T Banyasz… - Frontiers in …, 2020 - frontiersin.org
Calcium ions (Ca2+) play a major role in the cardiac excitation-contraction coupling.
Intracellular Ca2+ concentration increases during systole and falls in diastole thereby …

Calcium release channel RyR2 regulates insulin release and glucose homeostasis

G Santulli, G Pagano, C Sardu, W Xie… - The Journal of …, 2015 - Am Soc Clin Investig
The type 2 ryanodine receptor (RyR2) is a Ca2+ release channel on the endoplasmic
reticulum (ER) of several types of cells, including cardiomyocytes and pancreatic β cells. In …

[HTML][HTML] Short-coupled idiopathic ventricular fibrillation: a literature review with extended follow-up

B Belhassen, O Tovia-Brodie - JACC: Clinical Electrophysiology, 2022 - Elsevier
Idiopathic ventricular fibrillation is responsible for approximately 5%-7% of cases of aborted
cardiac arrest. Recent studies have shown that short-coupled ventricular premature …

Idiopathic ventricular fibrillation: the struggle for definition, diagnosis, and follow-up

M Visser, JF van der Heijden… - Circulation …, 2016 - Am Heart Assoc
2 Visser et al IVF: Definition, Diagnosis, and Follow-Up familial inheritance of a malign ER
pattern have been identified. 15 Therefore, ERS is considered a separate disease entity that …

[HTML][HTML] A type 2 ryanodine receptor variant associated with reduced Ca2+ release and short-coupled torsades de pointes ventricular arrhythmia

Y Fujii, H Itoh, S Ohno, T Murayama, N Kurebayashi… - Heart Rhythm, 2017 - Elsevier
Background Ventricular fibrillation may be caused by premature ventricular contractions
(PVCs) whose coupling intervals are< 300 ms, a characteristic of the short-coupled variant of …

Personalized medicine in the dish to prevent calcium leak associated with short-coupled polymorphic ventricular tachycardia in patient-derived cardiomyocytes

Y Sleiman, S Reiken, A Charrabi, F Jaffré… - Stem Cell Research & …, 2023 - Springer
Background Polymorphic ventricular tachycardia (PMVT) is a rare genetic disease
associated with structurally normal hearts which in 8% of cases can lead to sudden cardiac …

New insights into the genetic basis of inherited arrhythmia syndromes

B Gray, ER Behr - Circulation: Cardiovascular Genetics, 2016 - Am Heart Assoc
570 Circ Cardiovasc Genet December 2016 potassium channel dysfunction has also been
proposed recently as a possible mechanism for some stillbirths given that LQTS …

Post-translational modifications and diastolic calcium leak associated to the novel RyR2-D3638A mutation lead to CPVT in patient-specific hiPSC-derived …

I Acimovic, MM Refaat, A Moreau, A Salykin… - Journal of clinical …, 2018 - mdpi.com
Background: Sarcoplasmic reticulum Ca2+ leak and post-translational modifications under
stress have been implicated in catecholaminergic polymorphic ventricular tachycardia …

“Ryanopathies” and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Y Sleiman, A Lacampagne, AC Meli - Cell Death & Disease, 2021 - nature.com
The regulation of intracellular calcium (Ca2+) homeostasis is fundamental to maintain
normal functions in many cell types. The ryanodine receptor (RyR), the largest intracellular …