Publications by authors named "M Benjamin Shoemaker"
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 PDFArticle Synopsis
- Atrial fibrillation (AF) often recurs after catheter ablation, and the study investigates how changes in the pulmonary vein (PV) structure, highlighted by artificial intelligence (AI), relate to this recurrence.* -
- Two AI models were used to analyze CT images from 809 patients, examining features of primary and secondary PV branches to determine their link to AF recurrence post-ablation.* -
- The findings suggest that morphological features of primary PV branches have a significant association with AF recurrence, indicating potential pathways for improving patient outcomes after ablation.*
Article Synopsis
- TTN encodes the protein titin and is commonly associated with rare variants in patients diagnosed with atrial fibrillation (AF) during genetic testing.
- The study compared characteristics and outcomes of patients with AF having pathogenic TTN variants to those without such variants, revealing that TTN(+) patients experience more persistent AF and require more cardioversions.
- Findings indicate that nearly 50% of TTN(+) AF patients develop serious heart issues, emphasizing the importance of specialized evaluation and management for these individuals.
Article Synopsis
- The study investigates how rare non-coding genetic variations affect complex traits, specifically focusing on human height by analyzing data from over 333,100 individuals across three large datasets.
- Researchers found 29 significant rare variants linked to height, with impacts ranging from a decrease of 7 cm to an increase of 4.7 cm, after considering previously known variants.
- The team also identified specific non-coding variants near key genes associated with height, demonstrating a new method for understanding the effects of rare variants in regulatory regions using whole-genome sequencing.
Article Synopsis
- * A study involving 1,366 participants found that while having a pathogenic variant in any CM or arrhythmia gene wasn't significantly linked to AF recurrence, variants in the ALVC gene group (especially LMNA) were associated with a higher risk.
- * Overall, AF ablation appears beneficial for most patients with these variants, but those with ALVC variants may face a greater chance of experiencing recurrence of arrhythmias.