Trial reportPloS one2013
Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.
Trial report in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00624949 (Aortic Dimensions, 24hour Ambulatory Blood Pressure and Sympathovagal Tone in Turner Syndrome. In Relation to Aortic Dilatation and Dissection.), which is not on this map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Aortic Dimensions, 24hour Ambulatory Blood Pressure and Sympathovagal Tone in Turner Syndrome. In Relation to Aortic Dilatation and Dissection.
Who cites it
14 citing papers in PubMed, 39 citations in OpenAlex.
- Cell-type specific allelic dampening of sex-linked genes in sex chromosome aneuploidy.bioRxiv : the preprint server for biology · 2026Article
- Reliable detection of sex chromosome abnormalities by quantitative fluorescence polymerase chain reaction.Clinical chemistry and laboratory medicine · 2025Article
- Dosage of the pseudoautosomal gene SLC25A6 is implicated in QTc interval duration.Scientific reports · 2023Article
- X chromosome dosage and the genetic impact across human tissues.Genome medicine · 2023Article
- Cardiac abnormalities in girls with Turner syndrome: ECG abnormalities, myocardial strain imaging, and karyotype-phenotype associations.American journal of medical genetics. Part A · 2021Article
- Sexual Dimorphisms, Anti-Hormonal Therapy and Cardiac Arrhythmias.International journal of molecular sciences · 2021Review
- No QTc Prolongation in Girls and Women with Turner Syndrome.The Journal of clinical endocrinology and metabolism · 2020Article
- "Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2019Review
- Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.American journal of medical genetics. Part A · 2018Article
- Author`s Reply.Anatolian journal of cardiology · 2018Article
- Evaluation of the Tp-Te interval, Tp-Te/QTc ratio, and QT dispersion in patients with Turner syndrome.Anatolian journal of cardiology · 2018Article
- Assessment of the key regulatory genes and their Interologs for Turner Syndrome employing network approach.Scientific reports · 2018Article
- Prolonged QT interval and cardiac arrest after a single dose of amiodarone in a woman with Turner's syndrome.Clinical case reports · 2017Article
- Malformation syndromes associated with disorders of sex development.Nature reviews. Endocrinology · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesQT-interval prolongation of unknown aetiology is common in Turner syndrome. This study set out to explore the presence of known long QT mutations in Turner syndrome and to examine the corrected QT-interval (QTc) over time and relate the findings to the Turner syndrome phenotype.
methodsAdult women with Turner syndrome (n = 88) were examined thrice and 68 age-matched healthy controls were examined once. QTc was measured by one blinded reader (intra-reader variability: 0.7%), and adjusted for influence of heart rate by Bazett's (bQTc) and Hodges's formula (hQTc). The prevalence of mutations in genes related to Long QT syndrome was determined in women with Turner syndrome and a QTc >432.0 milliseconds (ms). Echocardiographic assessment of aortic valve morphology, 24-hour blood pressures and blood samples were done.
resultsThe mean hQTc in women with Turner syndrome (414.0 ± 25.5 ms) compared to controls (390.4 ± 17.8 ms) was prolonged (p<0.001) and did not change over time (416.9 ± 22.6 vs. 415.6 ± 25.5 ms; p =0.4). 45,X karyotype was associated with increased hQTc prolongation compared to other Turner syndrome karyotypes (418.2 ± 24.8 vs. 407.6 ± 25.5 ms; p = 0.055). In women with Turner syndrome and a bQTc >432 ms, 7 had mutations in major Long QT syndrome genes (SCN5A and KCNH2) and one in a minor Long QT syndrome gene (KCNE2).
conclusionThere is a high prevalence of mutations in the major LQTS genes in women with TS and prolonged QTc. It remains to be settled, whether these findings are related to the unexplained excess mortality in Turner women. CLINICAL
trial registrationNCT00624949. https://register.clinicaltrials.gov/prs/app/action/SelectProtocol/sid/S0001FLI/selectaction/View/ts/3/uid/U000099E.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.