Cardiac electrophysiology and arrhythmias

In silico model suggests that interdigitation promotes robust activation of atrial cells by pacemaker cells

This study uses computational modeling to show that interdigitated structures between pacemaker and atrial cells enhance electrical pulse propagation when protrusions are of sufficient size and synchronized.

Mitigation of Stress-induced Structural Remodeling and Functional Deficiency in iPSC-CMs with PLN R9C Mutation by Promoting Autophagy

This study investigates how the PLN R9C mutation affects iPSC-CMs and shows that promoting autophagy can mitigate stress-induced structural and functional defects in these cells.

An in silico cardiomyocyte reveals the impact of changes in CAMKII signalling on cardiomyocyte kinetics in hypertrophic cardiomyopathy

This study uses an in silico cardiomyocyte model to show that HCM leads to impaired crossbridge kinetics and a negative ATP supply-demand mismatch.

Location of ryanodine receptor type 2 mutation predicts age of onset of sudden death in catecholaminergic polymorphic ventricular tachycardia. A systematic review and meta analysis of case based literature

This study identifies that RyR2 mutation locations in CPVT patients predict earlier onset of sudden death, based on a meta-analysis of 1008 patients from 227 papers.

Multifocal Ectopic Purkinje Premature Contractions due to neutralization of an SCN5A negative charge: structural insights into the gating pore hypothesis

The paper identifies a novel SCN5A variant, E171Q, that creates a gating pore current by neutralizing a negative charge in the S2 helix, leading to MEPPC and altered voltage dependence.

Male sex hormone and reduced plakoglobin jointly impair atrial conduction and cardiac sodium currents

The paper shows that male sex hormones and reduced plakoglobin impair atrial conduction and sodium currents in mice, contributing to atrial remodelling.

Cardiac Specific Overexpression of Adenylyl Cyclase 8 Reprograms the Mouse Sinoatrial Node Transcriptome

This study identifies transcriptomic changes in the sinoatrial node of mice overexpressing AC8, revealing altered pathways and transcription factors linked to cardiac aging and disease.

Decreased Left Atrial Cardiomyocyte FGF13 Expression Increases Vulnerability to Postoperative Atrial Fibrillation in Humans

The paper identifies decreased FGF13 expression in left atrial cardiomyocytes as a factor increasing vulnerability to postoperative atrial fibrillation in humans.

Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch clamp assay

The paper establishes a functional patch clamp assay to classify KCNH2 variants in LQTS, using Z-scores to inform ACMG criteria and correlate with clinical scores.

The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young

This study identifies genetic variants in epilepsy, cardiomyopathy, and arrhythmia genes in a sudden death in the young cohort, finding enrichment of damaging variants and a correlation with younger age at death.

Thermogenetics for cardiac pacing

This paper demonstrates thermogenetics as an alternative to implantable devices for heart pacing by using TRPV1 activation with heat pulses.

In vivo proximity proteomics uncovers palmdelphin (PALMD) as a Z-line-associated mitigator of isoproterenol-induced cardiac injury

This study identifies PALMD as a Z-line-associated protein that mitigates cardiac injury through stabilization of NEXN using in vivo proximity proteomics.

Cardiac muscle-restricted partial loss of Nos1ap expression has limited impact on electro- and echo-cardiographic features

The paper investigates the impact of partial NOS1AP loss in cardiac muscle on electrocardiographic features, finding no effect on QT interval but a small reduction in QRS interval.

Causal SNP regulating FAM13B expression identified for the Chr. 5q31 atrial fibrillation susceptibility loc

The paper identifies rs17171731 as the causal SNP regulating FAM13B expression linked to atrial fibrillation and shows its effect on cardiomyocyte gene expression and sodium current.

Model-driven optimal experimental design for calibrating cardiac electrophysiology models

This paper develops a method to automatically design optimal experimental protocols for calibrating cardiac electrophysiology models to better identify cell-specific parameters.

Functional Genomics in Human iPSC-Derived Sinoatrial Node Cells Reveals Shared Regulatory Determinants of Heart Rate and Atrial Fibrillation

The paper develops a human iPSC-derived sinoatrial node system to study heart rhythm-associated SNPs and identifies causal variants linked to heart rate and atrial fibrillation.

Sympathetic innervation directs Ankyrin G, voltage-gated Nav and KCNQ1 channels to the neuro-cardiac junctions

The paper investigates how sympathetic innervation affects the localization of ion channels in cardiac myocytes, finding increased density of Nav and KCNQ1 channels at neuro-cardiac junctions.

Extracellular cysteine disulfide bond break at Cys122 disrupts PIP2-dependent Kir2.1 channel function and leads to arrhythmias in Andersen-Tawil Syndrome

This paper shows that a mutation breaking the Cys122-to-Cys154 disulfide bond in Kir2.1 channels disrupts PIP2 binding and causes arrhythmias in Andersen-Tawil Syndrome.

Sudden cardiac death in the young: A qualitative study of experiences of family members with cardiogenetic evaluation

This study explores family members' experiences with cardiogenetic evaluation after sudden cardiac death in young individuals, highlighting the need for better coordination of care and psychological support.

Creation of data-driven low-order predictive cardiac excitation models at the tissue scale in augmented state space

This paper introduces a data-driven model creation pipeline that generates fast cardiac excitation models from single spatio-temporal variable data, enabling rapid prediction of excitation and spiral waves.

Prediction of Kv11.1 potassium channel PAS-domain variants trafficking via machine learning

This study uses machine learning and molecular dynamics simulations to predict which KCNH2 variants disrupt Kv11.1 channel trafficking, improving variant classification accuracy by ~10%.

High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology

This study maps the functional effects of thousands of KCNE1 variants using high-throughput methods, identifying loss-of-function and loss-of-surface expression variants and showing concordance with electrophysiological and computational data.

Myosin Light Chain Dephosphorylation by PPP1R12C Promotes Atrial Hypocontractility in Atrial Fibrillation

This study shows PPP1R12C overexpression in AF patients and mice leads to MLC2a dephosphorylation, reduced atrial contractility, and increased AF inducibility.

Detection of distant familial relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome

This paper develops a method to identify undiagnosed carriers of a rare Mendelian disease variant by detecting distant familial relatedness in biobanks.

Improving inversion of model parameters from action potential recordings with kernel methods

This paper demonstrates the use of kernel methods to estimate ionic membrane current parameters from action potential traces, showing improved accuracy and efficiency compared to existing methods.

First report of genetic variants detected in Argentinian patients with clinical Long QT Syndrome diagnosis

The paper reports genetic variants in LQTS-associated genes from Argentinian patients, identifying a novel exon deletion in KCNQ1 and correlating these with clinical diagnoses.

An atrial fibrillation-associated regulatory region modulates cardiac Tbx5 levels and arrhythmia susceptibility

Phenotypic and genetic factors are associated with absence of cardiomyopathy symptoms in PLN c.40_42delAGA carriers

The paper identifies shorter QRS duration in asymptomatic PLN c.40_42delAGA carriers and links it to genetic sensitivity in symptomatic carriers.

Transcriptome of left ventricle and sinoatrial node in young and old C57 mice

The paper compares age-related molecular changes in left ventricle and sinoatrial node cells from young and old C57 mice using transcriptomic analysis to identify age-associated gene expression patterns and regulatory mechanisms.

Continuous Bayesian Variant Interpretation Accounts for Incomplete Penetrance among Mendelian Cardiac Channelopathies

The paper develops Bayesian models to estimate variant penetrance in Mendelian cardiac channelopathies, revealing continuous penetrance distributions and structural insights.