The QT interval, a measure of cardiac repolarization, predisposes to ventricular arrhythmias and sudden cardiac death (SCD) when prolonged or shortened. A common variant in NOS1AP is known to influence repolarization. We analyze genome-wide data from five population-based cohorts (ARIC, KORA, SardiNIA, GenNOVA and HNR) with a total of 15,842 individuals of European ancestry, to confirm the NOS1AP association and identify nine additional loci at P < 5 x 10(-8). Four loci map near the monogenic long-QT syndrome genes KCNQ1, KCNH2, SCN5A and KCNJ2. Two other loci include ATP1B1 and PLN, genes with established electrophysiological function, whereas three map to RNF207, near LITAF and within NDRG4-GINS3-SETD6-CNOT1, respectively, all of which have not previously been implicated in cardiac electrophysiology. These results, together with an accompanying paper from the QTGEN consortium, identify new candidate genes for ventricular arrhythmias and SCD.
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http://dx.doi.org/10.1038/ng.362 | DOI Listing |
Am J Med
January 2025
Professor of Medicine, Department of Cardiology, Tufts Medical Center, (Tufts University School of Medicine), Boston, MA 02111, USA. Electronic address:
Cardiologists and gastroenterologists often encounter the coexistence of symptoms and functional abnormalities, but determining causation is more difficult. In 1962 Smith and Papp first coined the term "linked angina". Their statement was preceded by the experiment whereby increase in bile duct pressure elicited the typical chest pain in patients with ischemic heart disease.
View Article and Find Full Text PDFJ Clin Sleep Med
January 2025
Division of Sleep Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Study Objectives: Evaluate the performance of the SANSA device to simultaneously assess obstructive sleep apnea (OSA) and cardiac arrhythmias.
Methods: Participants suspected or known to have OSA underwent polysomnography (PSG) while wearing SANSA. SANSA's algorithm was trained using 86 records and tested on 67 to evaluate training bias.
Naxos disease is a rare autosomal recessive condition combining arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. The first identified causative variant was in the gene encoding the desmosomal protein plakoglobin. Naxos disease exhibits fibro-fatty myocardial replacement with immunohistological abnormalities in cardiac protein and signaling pathways, highlighting the role of inflammation and potential anti-inflammatory treatments.
View Article and Find Full Text PDFIran J Basic Med Sci
January 2025
Molecular Medicine Research Center, Biomedicine Institute, Tabriz University of Medical Sciences, Tabriz, Iran.
Objectives: Ischemia/reperfusion (IR)-induced ventricular arrhythmia, which mainly occurs after the opening of coronary artery occlusion, poses a clinical problem. This study aims to investigate the effectiveness of pretreatment with coenzyme Q (CoQ) in combination with mitochondrial transplantation on IR-induced ventricular arrhythmias in aged rats.
Materials And Methods: Myocardial IR induction was performed by left anterior descending coronary artery occlusion for 30 min, followed by re-opening for 24 hr.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable myocardial condition that mostly affects the right ventricle (RV). Atrial involvement is poorly understood and the evidence for atrial involvement remains limited. In this case report, we describe an 18-year-old woman who had ARVC with the atrial tachyarrhythmia and initially presented with palpitations.
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