X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model
| Autor: | Fady Hannah-Shmouni, Beth A. Kozel, Niamh X. Cawley, An Dang Do, Audrey Noguchi, Christopher A. Wassif, Danielle A. Springer, Julia F Grafstein, Andrew Smith, Judith Miller, Audrey Thurm, Andreas Schulze, Dylan Hammond, Forbes D. Porter, Simona Bianconi, Mark D. Levin, Christopher F. Spurney, John Perreault, Zu-Xi Yu |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine medicine.medical_specialty Autism Spectrum Disorder Cardiomyopathy Diastole Creatine transport Disease 030105 genetics & heredity Plasma Membrane Neurotransmitter Transport Proteins QT interval Sudden death Article Death Sudden Mice 03 medical and health sciences Internal medicine Animals Humans Medicine cardiovascular diseases Genetics (clinical) business.industry Brain Diseases Metabolic Inborn Creatine medicine.disease Cross-Sectional Studies 030104 developmental biology Cohort Mental Retardation X-Linked Cardiology CTD business |
| Zdroj: | Genetics in medicine : official journal of the American College of Medical Genetics |
| ISSN: | 1098-3600 |
| DOI: | 10.1038/s41436-021-01224-8 |
| Popis: | 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. 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. Eighteen subjects with CTD (18 males, age 7.4 [3.8] years) were evaluated: seven subjects (39%) had QTc ≥ 470 milliseconds: 510.3 ± 29.0 vs. 448.3 ± 15.9, P |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink