Mark D Levin, Simona Bianconi, Andrew Smith, Niamh X Cawley, An Dang Do, Dylan Hammond, Julia F Grafstein, Audrey Thurm, Judith Miller, John Perreault, Audrey Noguchi, Danielle Springer, Beth A Kozel, Christopher F Spurney, Christopher A Wassif, Zu-Xi Yu, Andreas Schulze, Forbes D Porter, Fady Hannah-Shmouni
PURPOSE: Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). CTD features include developmental delay, seizures, and autism spectrum disorder. This study was designed to investigate CTD cardiac phenotype and sudden death risk. METHODS: We performed a cross-sectional analysis of CTD males between 2017 and 2020. Subjects underwent evaluation with electrocardiogram (ECG), echocardiography, and ambulatory ECG with comparable analysis in creatine transporter deficient mice (Slc6a8-/y ) using ECG, echocardiography, exercise testing, and indirect calorimetry...
October 2021: Genetics in Medicine: Official Journal of the American College of Medical Genetics