ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 14 citations in OpenAlex.
- Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort.Orphanet journal of rare diseases · 2026Observational
- Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.Pediatric neurology · 2026Observational
- [Scientific reports · 2025Article
- Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report.Epilepsia open · 2025Article
- Disorders of organic acid metabolism and epilepsy.Acta epileptologica · 2024Review
- Maintaining energy provision in the heart: the creatine kinase system in ischaemia-reperfusion injury and chronic heart failure.Clinical science (London, England : 1979) · 2024Review
- Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.Molecular genetics and metabolism reports · 2023Article
- A Novel Quantitative Electrocardiography Strategy Reveals the Electroinhibitory Effect of Tamoxifen on the Mouse Heart.Journal of cardiovascular translational research · 2023Article
- Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.Clinical genetics · 2023Article
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Authors and funding
19 authors at 4 institutions in 2 countries.
Funding
Abstract
purposeCreatine 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.
methodsWe 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
resultsEighteen 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 < 0.0001. The QTc ≥ 470 milliseconds cohort had increased left ventricular internal dimension (diastole) ([LVIDd] Z-score: 0.22 ± 0.74, n = 7 vs. -0.93 ± 1.0, n = 11, P = 0.0059), and diminished left ventricular posterior wall dimension (diastole) ([LVPWDd, in mm]: 5.0 ± 0.6, n = 7 vs. 5.7 ± 0.8, n = 11, P = 0.0183), when compared to subjects with normal or borderline QTc prolongation. Similar ECG and echocardiographic abnormalities were seen in Slc6a8
conclusionProlonged QTc and abnormal echocardiographic parameters consistent with developing cardiomyopathy are seen in some male subjects with CTD. Slc6a8
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