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 …

[HTML][HTML] Cardiac transmembrane ion channels and action potentials: cellular physiology and arrhythmogenic behavior

V András, J Tomek, N Nagy, L Virág… - Physiological …, 2021 - journals.physiology.org
Cardiac arrhythmias are among the leading causes of mortality. They often arise from
alterations in the electrophysiological properties of cardiac cells and their underlying ionic …

[HTML][HTML] 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest …

MK Stiles, AAM Wilde, DJ Abrams, MJ Ackerman… - Heart rhythm, 2021 - Elsevier
This international multidisciplinary document intends to provide clinicians with evidence-
based practical patient-centered recommendations for evaluating patients and decedents …

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 …

Genetic evidence for causal association between atrial fibrillation and dementia: a Mendelian randomization study

M Li, C Jiang, Y Lai, Y Wang, M Zhao, S Li… - Journal of the …, 2023 - Am Heart Assoc
Background The knowledge gap regarding whether the correlation between atrial fibrillation
(AF) and dementia in observational studies is causation or driven by other shared risk …

From genetics to genomics: facing the liability implications in clinical care

G Marchant, M Barnes, JP Evans, B LeRoy… - Journal of Law …, 2020 - cambridge.org
Health care is transitioning from genetics to genomics, in which single-gene testing for
diagnosis is being replaced by multi-gene panels, genome-wide sequencing, and other …

Suppression-Replacement KCNQ1 Gene Therapy for Type 1 Long QT Syndrome

SM Dotzler, CSJ Kim, WAC Gendron, W Zhou, D Ye… - Circulation, 2021 - Am Heart Assoc
Background: Type 1 long QT syndrome (LQT1) is caused by loss-of-function variants in the
KCNQ1-encoded Kv7. 1 potassium channel α-subunit that is essential for cardiac …

MicroRNA-365 regulates human cardiac action potential duration

D Esfandyari, BMG Idrissou, K Hennis… - Nature …, 2022 - nature.com
Abnormalities of ventricular action potential cause malignant cardiac arrhythmias and
sudden cardiac death. Here, we aim to identify microRNAs that regulate the human cardiac …

Genomic autopsy of sudden deaths in young individuals

G Webster, MJ Puckelwartz, LL Pesce… - JAMA …, 2021 - jamanetwork.com
Importance Postmortem genetic testing of young individuals with sudden death has
previously identified pathogenic gene variants. However, prior studies primarily considered …

Epidemiology of inherited arrhythmias

JA Offerhaus, CR Bezzina, AAM Wilde - Nature Reviews Cardiology, 2020 - nature.com
The primary electrical disorders are a group of inherited cardiac ventricular arrhythmias that
are a major cause of sudden cardiac death in young individuals. Inherited ventricular …