ArticleEuropean heart journal2016
The genetics underlying acquired long QT syndrome: impact for genetic screening.
Article in European heart journal, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05759260 (Does Exercise Training Mostly Unmask Congenital Long QT Syndrome or Simply Reveals a Novel Form of Acquired Long QT Syndrome in Genetically Predisposed Youngsters Practicing Sports?), which is not on this map. Cited by 98 papers, 2 of them syntheses that pooled it.
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.
Does Exercise Training Mostly Unmask Congenital Long QT Syndrome or Simply Reveals a Novel Form of Acquired Long QT Syndrome in Genetically Predisposed Youngsters Practicing Sports?
Who cites it
98 citing papers in PubMed, 2 syntheses or guidelines pooled it, 209 citations in OpenAlex.
- The diagnostic role of T wave morphology biomarkers in congenital and acquired long QT syndrome: A systematic review.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2023Pooled it
- Prediction of Ventricular Arrhythmias by QRS/QTc - Ratio in Citalopram or Escitalopram Intoxication.Frontiers in medicine · 2022Pooled it
- Congenital Long QT Syndrome: From Conventional Management to Emerging Biological Therapies.Reviews in cardiovascular medicine · 2026Review
- Electrocardiographic Repolarization Changes Following Orchiectomy: Insights Into QT Interval Prolongation and Clinical Implications.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2026Article
- Genetic Investigation of Corrected QT Interval Sensitivity to Oral Bepridil Hydrochloride Hydrate in Patients With Atrial Fibrillation.Journal of the American Heart Association · 2026Article
- Sudden cardiac death in young adults and the role of antipsychotic drugs: a multicenter autopsy study.Forensic science, medicine, and pathology · 2026Article
- Profound hypothyroidism unmasking symptomatically concealed long QT syndrome.HeartRhythm case reports · 2026Article
- Case Report: Association of a rare single nucleotide variant in the KCNH2 gene with drug-induced QT prolongation.Frontiers in genetics · 2026Article
- What Should a Clinical Cardiologist Know About Cardiogenetics?Journal of the American Heart Association · 2025Review
- Functional Profiling ofCirculation. Genomic and precision medicine · 2025Article
- Trends in Sudden Death Among Schizophrenia Inpatients.Medicina (Kaunas, Lithuania) · 2025Article
- Pathogenic KCNH2 variant in monozygotic twins with speech delay and lower risk type 2 long QT syndrome.Neurogenetics · 2025Article
- Congenital Long QT Syndrome: A Focus on Risk Stratification and Management.Reviews in cardiovascular medicine · 2025Review
- GDF10 promotes rodent cardiomyocyte maturation during the postnatal period.Journal of molecular and cellular cardiology · 2025Article
- Acquired and Genetic Causes of Heart Disease Can Co-Exist in a Single Patient.JACC. Case reports · 2025Article
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- Article
- Polygenic risk score for drug-induced long QT syndrome: independent validation in a real-world patient cohort.Pharmacogenetics and genomics · 2025Article
- JCS/JHRS 2022 Guideline on Diagnosis and Risk Assessment of Arrhythmia.Journal of arrhythmia · 2024Article
- From genes to clinical management: A comprehensive review of long QT syndrome pathogenesis and treatment.Heart rhythm O2 · 2024Review
38 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
22 authors at 14 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsAcquired long QT syndrome (aLQTS) exhibits QT prolongation and Torsades de Pointes ventricular tachycardia triggered by drugs, hypokalaemia, or bradycardia. Sometimes, QTc remains prolonged despite elimination of triggers, suggesting the presence of an underlying genetic substrate. In aLQTS subjects, we assessed the prevalence of mutations in major LQTS genes and their probability of being carriers of a disease-causing genetic variant based on clinical factors. METHODS AND
resultsWe screened for the five major LQTS genes among 188 aLQTS probands (55 ± 20 years, 140 females) from Japan, France, and Italy. Based on control QTc (without triggers), subjects were designated 'true aLQTS' (QTc within normal limits) or 'unmasked cLQTS' (all others) and compared for QTc and genetics with 2379 members of 1010 genotyped congenital long QT syndrome (cLQTS) families. Cardiac symptoms were present in 86% of aLQTS subjects. Control QTc of aLQTS was 453 ± 39 ms, shorter than in cLQTS (478 ± 46 ms, P < 0.001) and longer than in non-carriers (406 ± 26 ms, P < 0.001). In 53 (28%) aLQTS subjects, 47 disease-causing mutations were identified. Compared with cLQTS, in 'true aLQTS', KCNQ1 mutations were much less frequent than KCNH2 (20% [95% CI 7-41%] vs. 64% [95% CI 43-82%], P < 0.01). A clinical score based on control QTc, age, and symptoms allowed identification of patients more likely to carry LQTS mutations.
conclusionA third of aLQTS patients carry cLQTS mutations, those on KCNH2 being more common. The probability of being a carrier of cLQTS disease-causing mutations can be predicted by simple clinical parameters, thus allowing possibly cost-effective genetic testing leading to cascade screening for identification of additional at-risk family members.
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Registered trials
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.