[HTML][HTML] Genetic complexity of sinoatrial node dysfunction
The pacemaker cells of the cardiac sinoatrial node (SAN) are essential for normal cardiac
automaticity. Dysfunction in cardiac pacemaking results in human sinoatrial node …
automaticity. Dysfunction in cardiac pacemaking results in human sinoatrial node …
The childhood migraine syndrome
I Abu-Arafeh, AA Gelfand - Nature Reviews Neurology, 2021 - nature.com
Migraine is a complex genetic brain disorder with an intricate pathogenesis and
polymorphous clinical presentations, particularly in children. In this Perspective, we describe …
polymorphous clinical presentations, particularly in children. In this Perspective, we describe …
Impaired binding to junctophilin-2 and nanostructural alteration in CPVT mutation
L Yin, A Zahradnikova Jr, R Rizzetto… - Circulation …, 2021 - Am Heart Assoc
Rationale: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare disease,
manifested by syncope or sudden death in children or young adults under stress conditions …
manifested by syncope or sudden death in children or young adults under stress conditions …
Reclassification of variants of uncertain significance in children with inherited arrhythmia syndromes is predicted by clinical factors
JS Bennett, M Bernhardt, KL McBride, SC Reshmi… - Pediatric …, 2019 - Springer
Genetic testing is important to augment clinical diagnosis and inform management of
inherited arrhythmias syndromes (IAS), but variants of uncertain significance (VUS) are …
inherited arrhythmias syndromes (IAS), but variants of uncertain significance (VUS) are …
[HTML][HTML] RyR2R420Q catecholaminergic polymorphic ventricular tachycardia mutation induces bradycardia by disturbing the coupled clock pacemaker mechanism
YY Wang, P Mesirca, E Marqués-Sulé… - JCI insight, 2017 - ncbi.nlm.nih.gov
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal genetic
arrhythmia that manifests syncope or sudden death in children and young adults under …
arrhythmia that manifests syncope or sudden death in children and young adults under …
[HTML][HTML] Uptake-leak balance of SR Ca2+ determines arrhythmogenic potential of RyR2R420Q+/− cardiomyocytes
R Lopez, R Janicek, M Fernandez-Tenorio… - Journal of molecular and …, 2022 - Elsevier
Mutations of the RyR2 are channelopathies that can predispose to life threatening
catecholaminergic polymorphic ventricular tachycardias (CPVTs) during exercise or stress …
catecholaminergic polymorphic ventricular tachycardias (CPVTs) during exercise or stress …
[HTML][HTML] Dual effect of cardiac FKBP12. 6 overexpression on excitation-contraction coupling and the incidence of ventricular arrhythmia depending on its expression …
M Gandon-Renard, A Val-Blasco, C Oughlis… - Journal of molecular and …, 2024 - Elsevier
Abstract FKBP12. 6, a binding protein to the immunosuppressant FK506, which also binds
the ryanodine receptor (RyR2) in the heart, has been proposed to regulate RyR2 function …
the ryanodine receptor (RyR2) in the heart, has been proposed to regulate RyR2 function …
Elimination of ventricular arrhythmia in catecholaminergic polymorphic ventricular tachycardia by targeting “catecholamine‐sensitive area”: a dominant‐subordinate …
Y Shirai, M Goya, S Ohno, M Horie… - Pacing and Clinical …, 2017 - Wiley Online Library
We report on a patient diagnosed with catechoaminergic polymorphic ventricular
tachycardia (CPVT) who underwent catheter ablation of ventricular premature contractions …
tachycardia (CPVT) who underwent catheter ablation of ventricular premature contractions …
Prognosis and clinical management of asymptomatic family members with RYR2-mediated catecholaminergic polymorphic ventricular tachycardia: a review
PJ Peltenburg, H Gibson, AAM Wilde… - Cardiology in the …, 2024 - cambridge.org
Despite its low prevalence, the potential diagnosis of catecholaminergic polymorphic
ventricular tachycardia (CPVT) should be at the forefront of a paediatric cardiologists mind in …
ventricular tachycardia (CPVT) should be at the forefront of a paediatric cardiologists mind in …
[HTML][HTML] A Recurrent Exertional Syncope and Sudden Cardiac Arrest in a Young Athlete with Known Pathogenic p.Arg420Gln Variant in the RYR2 Gene
M Stępień-Wojno, J Ponińska, EK Biernacka… - Diagnostics, 2020 - mdpi.com
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of causes of sudden
cardiac death in the young, especially in athletes. Diagnosis of CPVT may be difficult since …
cardiac death in the young, especially in athletes. Diagnosis of CPVT may be difficult since …