M. Benjamin Shoemaker
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View article: Outcomes of Ventricular Tachycardia Catheter Ablation in Pediatric Arrhythmogenic Right Ventricular Cardiomyopathy
Outcomes of Ventricular Tachycardia Catheter Ablation in Pediatric Arrhythmogenic Right Ventricular Cardiomyopathy Open
BACKGROUND: Radiofrequency catheter ablation (RFCA) of ventricular tachycardia (VT) in arrhythmogenic right ventricular cardiomyopathy is safe and reduces ventricular arrhythmia burden. Previous studies included adult patients, and data on…
View article: Genetic evaluation of early-onset atrial fibrillation: impact on patient management
Genetic evaluation of early-onset atrial fibrillation: impact on patient management Open
Background and Aims Genetic testing is recommended for select patients with atrial fibrillation (AF). The aims of this study were to define the results of genetic evaluation and its therapeutic impact for patients referred to a dedicated A…
View article: Ryanodine Receptor Inhibition with Dantrolene Prevents Ventricular Tachycardia Induction in Patients with Structural Heart Disease – A Randomized Controlled Trial
Ryanodine Receptor Inhibition with Dantrolene Prevents Ventricular Tachycardia Induction in Patients with Structural Heart Disease – A Randomized Controlled Trial Open
Despite clinical need, no new drugs for treating ventricular tachycardia (VT) have emerged for over 20 years. In structural heart disease, posttranslational modifications render intracellular ryanodine receptor-2 (RyR2) calcium release cha…
View article: Patient-derived Cellular Models of Polygenic Scores: Application to Long QT Syndrome
Patient-derived Cellular Models of Polygenic Scores: Application to Long QT Syndrome Open
Polygenic scores (PGS) have emerged as important modifiers of disease risk, drug response, and rare variant penetrance, but the biological mechanisms underlying these associations remain poorly understood. To experimentally investigate the…
View article: The Therapeutic Impact of Genetic Evaluation in an Atrial Fibrillation Precision Medicine Clinic
The Therapeutic Impact of Genetic Evaluation in an Atrial Fibrillation Precision Medicine Clinic Open
Background and Aims Genetic testing is recommended for select patients with atrial fibrillation (AF). The aims of this study were to define the results of genetic evaluation and its therapeutic impact for patients referred to a dedicated A…
View article: Increased L-type calcium current causes action potential prolongation in Jervell and Lange-Nielsen syndrome and is a drug target
Increased L-type calcium current causes action potential prolongation in Jervell and Lange-Nielsen syndrome and is a drug target Open
Background KCNQ1 loss of function variants are thought to cause type 1 long QT syndrome by reducing I Ks . However, we have recently reported that pharmacologic block of I Ks in human induced pluripotent stem cell-derived cardiomyocytes (i…
View article: Artificial Intelligence–Based Feature Analysis of Pulmonary Vein Morphology on Computed Tomography Scans and Risk of Atrial Fibrillation Recurrence After Catheter Ablation: A Multi-Site Study
Artificial Intelligence–Based Feature Analysis of Pulmonary Vein Morphology on Computed Tomography Scans and Risk of Atrial Fibrillation Recurrence After Catheter Ablation: A Multi-Site Study Open
BACKGROUND: Atrial fibrillation (AF) recurrence is common after catheter ablation. Pulmonary vein (PV) isolation is the cornerstone of AF ablation, but PV remodeling has been associated with the risk of AF recurrence. We aimed to evaluate …
View article: Clinical Characteristics and Outcomes in Patients With Atrial Fibrillation and Pathogenic TTN Variants
Clinical Characteristics and Outcomes in Patients With Atrial Fibrillation and Pathogenic TTN Variants Open
TTN(+) AF patients undergo more cardioversions and have more persistent forms of AF. Approximately 50% develop LV systolic dysfunction and/or malignant ventricular arrhythmias. These results highlight the need for diagnostic evaluation and…
View article: Ablation for Atrial Fibrillation in Patients With Rare Pathogenic Variants in Cardiomyopathy and Arrhythmia Genes
Ablation for Atrial Fibrillation in Patients With Rare Pathogenic Variants in Cardiomyopathy and Arrhythmia Genes Open
Our results support the use of AF ablation for most patients with rare pathogenic CM or arrhythmia variants, including TTN. However, patients with ALVC variants, such as LMNA, may be at a significantly higher risk for arrhythmia recurrence.
View article: Genetic testing in early-onset atrial fibrillation
Genetic testing in early-onset atrial fibrillation Open
Atrial fibrillation (AF) is a globally prevalent cardiac arrhythmia with significant genetic underpinnings, as highlighted by recent large-scale genetic studies. A prominent clinical and genetic overlap exists between AF, heritable ventric…
View article: Meta-Analysis of Genome-Wide Association Studies Reveals Genetic Mechanisms of Supraventricular Arrhythmias
Meta-Analysis of Genome-Wide Association Studies Reveals Genetic Mechanisms of Supraventricular Arrhythmias Open
BACKGROUND: Substantial data support a heritable basis for supraventricular tachycardias, but the genetic determinants and molecular mechanisms of these arrhythmias are poorly understood. We sought to identify genetic loci associated with …
View article: Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes
Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes Open
Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated genes nominated by GWAS to examine their role in telomere length regulation. We conducted …
View article: Recurrence After Atrial Fibrillation Ablation and Investigational Biomarkers of Cardiac Remodeling
Recurrence After Atrial Fibrillation Ablation and Investigational Biomarkers of Cardiac Remodeling Open
Background Recurrence after atrial fibrillation (AF) ablation remains common. We evaluated the association between recurrence and levels of biomarkers of cardiac remodeling, and their ability to improve recurrence prediction when added to …
View article: Unbiased characterization of atrial fibrillation phenotypic architecture provides insight to genetic liability and clinically relevant outcomes
Unbiased characterization of atrial fibrillation phenotypic architecture provides insight to genetic liability and clinically relevant outcomes Open
Background Atrial Fibrillation (AF) is a common and clinically heterogeneous arrythmia. Machine learning (ML) algorithms can define data-driven disease subtypes in an unbiased fashion, but whether the AF subgroups defined in this way align…
View article: Multi-site validation of a functional assay to adjudicate<i>SCN5A</i>Brugada Syndrome-associated variants
Multi-site validation of a functional assay to adjudicate<i>SCN5A</i>Brugada Syndrome-associated variants Open
Brugada Syndrome (BrS) is an inheritable arrhythmia condition that is associated with rare, loss-of-function variants in the cardiac sodium channel gene, SCN5A . Interpreting the pathogenicity of SCN5A missense variants is challenging and …
View article: Whole genome association testing in 333,100 individuals across three biobanks identifies rare non-coding single variant and genomic aggregate associations with height
Whole genome association testing in 333,100 individuals across three biobanks identifies rare non-coding single variant and genomic aggregate associations with height Open
The role of rare non-coding variation in complex human phenotypes is still largely unknown. To elucidate the impact of rare variants in regulatory elements, we performed a whole-genome sequencing association analysis for height using 333,1…
View article: Disruption of Z-Disc Function Promotes Mechanical Dysfunction in Human Myocardium: Evidence for a Dual Myofilament Modulatory Role by Alpha-Actinin 2
Disruption of Z-Disc Function Promotes Mechanical Dysfunction in Human Myocardium: Evidence for a Dual Myofilament Modulatory Role by Alpha-Actinin 2 Open
The ACTN2 gene encodes α-actinin 2, located in the Z-disc of the sarcomeres in striated muscle. In this study, we sought to investigate the effects of an ACTN2 missense variant of unknown significance (p.A868T) on cardiac muscle structure …
View article: Common and Rare Variant Contributions to Bradyarrhythmias from Multi-Ancestry Meta-Analyses
Common and Rare Variant Contributions to Bradyarrhythmias from Multi-Ancestry Meta-Analyses Open
To broaden our understanding of bradyarrhythmias and diseases of the cardiac conduction system, we performed cross-sectional multi-ancestry genome-wide association study meta-analyses in up to 1.3 million individuals for sinus node dysfunc…
View article: Validation of human telomere length trans-ancestry meta-analysis association signals identifies<i>POP5</i>and<i>KBTBD6</i>as novel human telomere length regulation genes
Validation of human telomere length trans-ancestry meta-analysis association signals identifies<i>POP5</i>and<i>KBTBD6</i>as novel human telomere length regulation genes Open
Telomere length genome-wide association studies (GWAS) have become well-powered to detect novel genes in telomere length regulation. However, no prior work has validated these putative novel genes to confirm the contribution of GWAS loci t…
View article: Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants Open
Exonic variants present some of the strongest links between genotype and phenotype. However, these variants can have significant inter-individual pathogenicity differences, known as variable penetrance. In this study, we propose a model wh…
View article: Cardiac Sarcoidosis and a Likely Pathogenic TTN Variant in a Patient Presenting With Ventricular Tachycardia
Cardiac Sarcoidosis and a Likely Pathogenic TTN Variant in a Patient Presenting With Ventricular Tachycardia Open
Rare variants in TTN are the most common monogenic cause of early-onset atrial fibrillation and dilated cardiomyopathy. Whereas cardiac sarcoidosis is very underdiagnosed, a common presentation can be ventricular arrhythmias. This report p…