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http://dx.doi.org/10.1016/j.jacasi.2025.05.010 | DOI Listing |
JACC Clin Electrophysiol
August 2025
Department of Cardiovascular Medicine, Division of Heart Rhythm Services and the Windland Smith Rice Genetic Heart Rhythm Clinic, Mayo Clinic, Rochester, Minnesota, USA; Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Cardiac Death Genomics Laboratory,
Background: Arrhythmogenic cardiomyopathy (ACM) is characterized by fibrofatty myocardial replacement and increased arrhythmic risk. Although exercise exacerbates desmosomal ACM, the prognostic significance of arrhythmias during exercise stress tests (ESTs) remains unclear.
Objectives: The goal of this study was to determine the impact of ventricular arrhythmia observed during peak exercise and/or recovery EST phases on the risk of major ventricular arrhythmia (MVA) events in patients with desmosomal ACM.
Cardiovasc Res
September 2025
Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Aims: Phospholamban (PLN) acts as an inhibitory regulator of calcium uptake in the sarco-/endoplasmic reticulum (SR) of cardiomyocytes. The pathogenic variant, PLN-R14del, leads to dilated and/or arrhythmogenic cardiomyopathy. Previous studies demonstrated that PLN-targeting antisense oligonucleotides (ASOs) can mitigate disease progression in mice.
View Article and Find Full Text PDFJ Am Coll Cardiol
September 2025
Thrombolysis in Myocardial Infarction Study Group, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA; Division of Cardiovascular Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA. Electronic address:
Background: Genetic variants in cardiomyopathy genes are associated with risk of atrial fibrillation (AF), although data on clinical outcomes for AF patients with such variants remain sparse.
Objectives: We aimed to study the prognostic implication of rare cardiomyopathy-associated pathogenic variants (CMP-PLP) in AF patients from large, well-phenotyped clinical trials.
Methods: CMP-PLP carriers were identified using exome sequencing in 5 multinational trials from the Thrombolysis in Myocardial Infarction study group (ENGAGE AF, FOURIER, SAVOR, PEGASUS, and DECLARE), with replication in the EAST-AFNET-4 trial.
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease with a poor prognosis and no curative therapy. It may present as arrhythmogenic sudden cardiac death and inevitably progress to terminal heart failure due to the loss of contractile tissue. This study aimed to generate knock-in (KI) mice carrying the 2 genetic variants (DSG2 p.
View Article and Find Full Text PDFJ Biol Chem
August 2025
Institute for Chemical Research, Kyoto University, Uji, Kyoto, 611-0011, Japan; Institute for Integrated Cell-Material Sciences (WPI-iCeMS), Kyoto University, Uji, Kyoto, 611-0011, Japan; School of Pharmacy, Fudan University, Shanghai 201203, China. Electronic address:
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disorder characterized by the replacement of myocardial tissue with adipose tissue. One of the frequently mutated proteins in ARVC is TMEM43, which encodes a transmembrane protein primarily localized to the endoplasmic reticulum (ER) and nuclear membranes and stabilized by interacting with squalene synthase (SQS). However, its precise role in ARVC pathogenesis remains unclear.
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