A5007938866- Cardiac electrophysiology and arrhythmias
- Congenital heart defects research
- Cardiomyopathy and Myosin Studies
- Ion channel regulation and function
- Cardiovascular Effects of Exercise
Duke University
2020-2022
Cardiac channelopathies such as catecholaminergic polymorphic tachycardia and long QT syndrome predispose patients to fatal arrhythmias sudden cardiac death. As genetic testing has become common in clinical practice, variants of uncertain significance (VUS) genes associated with ventricular are frequently found. The objective this study was predict pathogenicity tachycardia-associated RYR2 VUS syndrome-associated KCNQ1, KCNH2, SCN5A by developing gene-specific machine learning models...
Abstract Long QT syndrome (LQTS) is a genetic disease resulting in prolonged interval on resting electrocardiogram, predisposing affected individuals to polymorphic ventricular tachycardia and sudden death. Although number of genes have been implicated this disease, nearly one four exhibiting the LQTS phenotype are genotype‐negative. Whole‐exome sequencing identified missense T223M variant TBX5 that cosegregates with family otherwise genotype‐negative The TBX5‐T223M was absent among large...