A5093860928- Cardiac electrophysiology and arrhythmias
- Cardiac pacing and defibrillation studies
- Ion channel regulation and function
- Cardiomyopathy and Myosin Studies
- Neuroscience and Neural Engineering
- Viral Infections and Immunology Research
- Bioinformatics and Genomic Networks
- Biotechnology and Related Fields
- Fungal and yeast genetics research
- Receptor Mechanisms and Signaling
- Pluripotent Stem Cells Research
- Neuroscience and Neuropharmacology Research
- Genetic Neurodegenerative Diseases
- 3D Printing in Biomedical Research
- Cardiac Ischemia and Reperfusion
- Cardiac Arrhythmias and Treatments
IRCCS Istituto Auxologico Italiano
2024
University of Milano-Bicocca
2024
Istituti di Ricovero e Cura a Carattere Scientifico
2024
Abstract Background and Aims Risk scores are proposed for genetic arrhythmias. Having in 2010 one such score (M-FACT) the long QT syndrome (LQTS), this study aims to test whether adherence its suggestions would be appropriate. Methods LQT1/2/3 genotype-negative patients without aborted cardiac arrest (ACA) before diagnosis or events (CEs) below age 1 were included study, focusing on an M-FACT ≥2 (intermediate/high risk), either at presentation (static) during follow-up (dynamic), previously...
Despite major advances in the clinical management of long QT syndrome, some patients are not fully protected by beta-blocker therapy. Mexiletine is a well-known sodium channel blocker, with proven efficacy channel-mediated syndrome type 3. Our aim was to evaluate mexiletine 2 (LQT2) using cardiomyocytes derived from patient-specific human induced pluripotent stem cells, transgenic LQT2 rabbit model, and LQT2.
BACKGROUND: Long QT syndrome is a lethal arrhythmia syndrome, frequently caused by rare loss-of-function variants in the potassium channel encoded KCNH2 . Variant classification difficult, often because of lack functional data. Moreover, variant-based risk stratification also complicated heterogenous clinical data and incomplete penetrance. Here we sought to test whether variant-specific information, primarily from high-throughput assays, could improve both cardiac event large, harmonized...
Abstract Background Long QT syndrome (LQTS) is a lethal arrhythmia syndrome, frequently caused by rare loss-of-function variants in the potassium channel encoded KCNH2 . Variant classification difficult, often owing to lack of functional data. Moreover, variant-based risk stratification also complicated heterogenous clinical data and incomplete penetrance. Here, we sought test whether variant-specific information, primarily from high-throughput assays, could improve both cardiac event large,...
Long QT syndrome (LQTS) is a lethal arrhythmia syndrome, frequently caused by rare loss-of-function variants in the potassium channel encoded KCNH2. Variant-based risk stratification complicated heterogenous clinical data, incomplete penetrance, and low-throughput functional data. While variant-specific data can assist with variant classification, whether prediction of outcomes unknown.