Publications by authors named "Hollie Williams"
Long QT syndrome (LQTS), an inherited cardiac arrhythmia syndrome with congenital and drug-induced presentations and known monogenic and polygenic contributions, represents a significant clinical challenge due to its complex genetic underpinning and propensity for fatal arrhythmias. In this study, we generated induced pluripotent stem cells (iPSCs) reprogrammed from peripheral blood mononuclear cells (PBMCs) of six patients with extreme polygenic scores for short and long corrected QT intervals. This patient-specific approach will enable us to better understand variable expressivity and penetrance of LQTS, using rigorously validated iPSC lines serve as a vital resource for elucidating the molecular mechanisms underlying LQTS.
View Article and Find Full Text PDFArticle 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
- * 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.