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Advances in transcriptional regulation of the heart rhythm.
Heart Rhythm
January 2025
Leon H. Charney Division of Cardiology, New York University Grossman School of Medicine, New York, New York.
Underlying normal cardiac rhythm is a network of transcriptional programs that ensures normal impulse initiation and impulse propagation. We highlight work that shows how alterations in individual transcriptional networks can lead to increased arrhythmia susceptibility, cardiomyopathy, and congenital heart defects. Lastly, we focus on a study that leverages transcription factor biology to therapeutically modulate heart rhythm.
View Article and Find Full Text PDFThe impact of common and rare genetic variants on bradyarrhythmia development.
Nat Genet
January 2025
Telemachus and Irene Demoulas Family Foundation Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA.
To broaden our understanding of bradyarrhythmias and conduction disease, we performed common variant genome-wide association analyses in up to 1.3 million individuals and rare variant burden testing in 460,000 individuals for sinus node dysfunction (SND), distal conduction disease (DCD) and pacemaker (PM) implantation. We identified 13, 31 and 21 common variant loci for SND, DCD and PM, respectively.
View Article and Find Full Text PDFTreatment for women with postpartum iron deficiency anaemia.
Cochrane Database Syst Rev
December 2024
Cochrane Denmark and Centre for Evidence-Based Medicine Odense (CEBMO), University of Southern Denmark, Odense, Denmark.
Rationale: Postpartum iron deficiency anaemia is caused by antenatal iron deficiency or excessive blood loss at delivery and might affect up to 50% of labouring women in low- and middle-income countries. Effective and safe treatment during early motherhood is important for maternal well-being and newborn care. Treatment options include oral iron supplementation, intravenous iron, erythropoietin, and red blood cell transfusion.
View Article and Find Full Text PDFFunctional and imaging outcomes of the Fontan circulation following pregnancy.
Int J Cardiol
January 2025
Department of Adult Congenital Heart Disease, Queen Elizabeth Hospital, University Hospital, Birmingham, UK.
Introduction: The Fontan circulation palliates single-ventricle congenital heart disease by separating the systemic and pulmonary circulations. An increasing number of women with a Fontan circulation are wishing to become pregnant, however the ability to increase cardiac output during pregnancy is limited in many due to the chronic low output state. We describe pregnancy outcomes in these women at a large tertiary centre, including functional and imaging outcomes.
View Article and Find Full Text PDFRare variant contribution to the heritability of coronary artery disease.
Nat Commun
October 2024
The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Article Synopsis
- Whole genome sequencing (WGS) helps identify rare genetic variants that may explain the missing heritability of coronary artery disease (CAD) by analyzing 4,949 cases and 17,494 controls from the NHLBI TOPMed program.
- The study estimates that the heritability of CAD is around 34.3%, with ultra-rare variants contributing about 50%, especially those with low linkage disequilibrium.
- Functional annotations show significant enrichment of CAD heritability, highlighting the importance of ultra-rare variants and specific regulatory mechanisms in different cells as major factors influencing genetic risk for the disease.
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