ArticleAmerican journal of medical genetics. Part A2017
Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype.
Article in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Autonomic dysfunction and sudden death in patients with Rett syndrome: a systematic reviewJournal of psychiatry & neuroscience : JPN · 2020Pooled it
- 24-h continuous non-invasive multiparameter home monitoring of vitals in patients with Rett syndrome by an innovative wearable technology: evidence of an overlooked chronic fatigue status.Frontiers in neurology · 2024Article
- Natural language processing and expert follow-up establishes tachycardia association with CDKL5 deficiency disorder.Genetics in medicine open · 2024Article
- The Heart of Rett Syndrome: A Quantitative Analysis of Cardiac Repolarization.Cardiology research · 2023Article
- Cardiac autonomic control in Rett syndrome: Insights from heart rate variability analysis.Frontiers in neuroscience · 2023Review
- Analysis of electrocardiograms in individuals with CDKL5 deficiency disorder.American journal of medical genetics. Part A · 2023Article
- QTPhysiological reports · 2022Article
- Delayed Ventricular Repolarization and Sodium Channel Current Modification in a Mouse Model of Rett Syndrome.International journal of molecular sciences · 2022Article
- Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition.Journal of medical genetics · 2022Article
- Breathing disturbances in Rett syndrome.Handbook of clinical neurology · 2022Review
- Rett syndrome: think outside the (skull) box.Faculty reviews · 2021Review
- Diurnal variation in autonomic regulation among patients with genotyped Rett syndrome.Journal of medical genetics · 2020Article
- The antitussive cloperastine improves breathing abnormalities in a Rett Syndrome mouse model by blocking presynaptic GIRK channels and enhancing GABA release.Neuropharmacology · 2020Article
- Multisystem comorbidities in classic Rett syndrome: a scoping review.BMJ paediatrics open · 2020Article
- Consensus guidelines on managing Rett syndrome across the lifespan.BMJ paediatrics open · 2020Article
- Potent hERG channel inhibition by sarizotan, an investigative treatment for Rett Syndrome.Journal of molecular and cellular cardiology · 2019Article
- Rett syndrome: a neurological disorder with metabolic components.Open biology · 2018Review
- Acute respiratory compromise due to bilateral pneumothoraces in a patient with Rett syndrome.Anaesthesia reportsArticle
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
Rett syndrome (RTT) is caused by MECP2 mutations, resulting in various neurological symptoms. Prolonged corrected QT interval (QTc) is also reported and is a speculated cause of sudden death in RTT. The purpose of this study was to correlate QTc in RTT patients with age, clinical severity, and genotype. 100 RTT patients (98 females, 2 males) with MECP2 mutations underwent baseline neurological evaluation (KKI-RTT Severity Scale) and QTc measurement (standard 12 lead electrocardiogram) as part of our prospective natural history study. Mean QTc of the cohort was 422.6 msec, which did not exceed the normal values for age. 7/100 patients (7%) had QTc prolongation (>450 msec). There was a trend for increasing QTc with age and clinical severity (P = 0.09). No patients with R106C, R106W, R133C, R168*, R270*, R294*, R306C, R306H, and R306P mutations demonstrated QTc prolongation. There was a relatively high proportion of QTc prolongation in patients with R255* mutations (2/8, 25%) and large deletions (1/4, 25%). The overall presence of QTc prolongation did not correlate with mutation category (P = 0.52). Our findings demonstrate that in RTT, the prevalence of QTc prolongation is lower than previously reported. Hence, all RTT patients warrant baseline ECG; if QTc is prolonged, then cardiac followup is warranted. If initial QTc is normal, then annual ECGs, particularly in younger patients, may not be necessary. However, larger sample sizes are needed to solidify the association between QTc and age and clinical severity. The biological and clinical significance of mild QTc prolongation above the normative data remains undetermined.
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Registered trials
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