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Cardiology1576 papers

Long QT syndrome

Last edited: 4/23/2026

Overview

Long QT syndrome (LQTS) is an inherited cardiac disorder characterized by prolonged QT intervals on the electrocardiogram, predisposing individuals to life-threatening arrhythmias such as torsades de pointes 24.

Diagnosis

  • Electrocardiogram (ECG): Prolonged QT interval is the primary diagnostic criterion 2474.
  • Genetic Testing: Identifies mutations in genes such as KCNQ1, KCNH2, SCN5A, and others 41674.
  • Holter Monitoring: Useful for assessing QT dispersion and identifying intermittent arrhythmias 27.
  • Clinical History: Family history of sudden cardiac death or syncope is crucial 415.
  • Management

  • Beta-Blockers: First-line therapy to reduce arrhythmic risk 9136.
  • Implantable Cardioverter-Defibrillator (ICD): Recommended for high-risk patients (e.g., history of cardiac arrest, certain genotypes) 36.
  • Avoidance of Triggers: Minimize QT prolonging drugs and conditions (e.g., stress, fever) 1033.
  • Left Cardiac Sympathetic Denervation (LCSD): Considered for patients refractory to other treatments 66.
  • Special Populations

  • Pregnancy: Close monitoring and individualized management; beta-blockers are generally safe but require careful dose adjustment 9.
  • Pediatrics: Early diagnosis and aggressive management with beta-blockers; Holter monitoring for risk stratification 1427.
  • Elderly: Similar management principles apply, with emphasis on comorbidities and medication interactions 36.
  • Key Recommendations

  • Initiate beta-blockers as first-line therapy for all symptomatic and asymptomatic LQTS patients to reduce arrhythmic risk (Evidence: Strong 936).
  • Consider implantable cardioverter-defibrillator (ICD) placement for patients with a history of cardiac arrest or specific high-risk genotypes (Evidence: Strong 36).
  • Regular genetic testing and ECG monitoring are essential for early detection and management in pediatric and familial LQTS cases (Evidence: Moderate 416).
  • Tailor management in pregnancy with close monitoring and individualized beta-blocker dosing to balance maternal and fetal safety (Evidence: Moderate 9).
  • Use Holter monitoring to assess QT variability and risk stratification in pediatric patients (Evidence: Moderate 27).
  • References

    Showing 100 most recent of 789 indexed papers.

    1 Igarashi Y, Tateishi S, Sawajima T, Harada A, Matsuoka J, Kawasumi M et al.. Occupational physicians' practices in supporting employees with long COVID: a mixed-methods study. Journal of occupational health 2026. link 2 Srutova M, Lhotska L, Kremen V. Differentiating long QT syndrome genotypes using electrocardiographic geometric parameterization and machine learning approaches. Biomedical physics & engineering express 2026. link 3 Park YG, Park NK, Lee Y, Pramudito MA, Son YJ, Park H et al.. A machine learning platform for genotype-specific cardiotoxicity risk prediction using patient-derived iPSC-CMs. Journal of advanced research 2026. link 4 Rudquist EV, Neves R, Bains S, Bos JM, Giudicessi JR, Ackerman MJ. Prevalence, spectrum, and outcomes in patients with nonpenetrant long QT syndrome. Heart rhythm 2026. link 5 Moster KRC, Vanoye CG, Chang-Gonzalez AC, Romaine IM, Stefanski KM, Wilkinson MC et al.. High-throughput screening identifies a trafficking corrector for long QT syndrome-associated KCNQ1 variants. JCI insight 2026. link 6 Cataldo SA, Horovitz SG, Margulis L, Micciulli A, Sarmiento F, Monteleone M et al.. Spatial Coefficient of Variation (sCOV) From ASL MRI Reveals Global Cerebrovascular Dysfunction in Long COVID. NMR in biomedicine 2026. link 7 Li Q, Meng LB. Research progress on the relationship between long QT syndrome (LQTS) and epilepsy: A review. Medicine 2026. link 8 Forouhar Karadogan B, Karatas A, Cagavi E. Mapping cardiac innervation in the long QT syndrome type 1 transgenic mouse model using whole heart imaging. Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology 2026. link 9 Grégori M, Le Gloan L, Goronflot T, Gourraud JB, Misbert E, Winer N et al.. Impact of β-Blockers on the Risk of Low-Birth-Weight Infants in Women with Long QT Syndrome or Marfan Syndrome: A Single-Center Retrospective Study from 2008 to 2022 in a Tertiary Care Center. Paediatric drugs 2026. link 10 Jing L, Morland TB, Kelsey CR, Raghunath S, Pfeifer JM, Ruhl JA et al.. Machine learning-enabled assessment of risk of drug-induced QT prolongation at the time of prescribing. Heart rhythm 2026. link 11 Mossetti V, Di Corrado R, HaxhiNasto H, Maiolo G, Sciurti M, Quaglia S et al.. Optimizing Peri-Operative Pain Management in Children With Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia Undergoing Left Cardiac Sympathetic Denervation: A Case Series on Continuous Erector Spinae Plane Block and Serratus Plane Block. Paediatric anaesthesia 2026. link 12 Murphy T, Spentzou G, Hustig A, Erquiaga Y, Haden J, Shortland J. Prospective National Audit of the Anesthetic Management of Children With Long QT Syndrome. Paediatric anaesthesia 2026. link 13 Schmidt SH, Jeremiasen I, Eklund EA, Pronk CJ. Population-Based Study Found Low Risk of Misdiagnosing Long QT Syndrome as Breath-Holding Spells in Swedish Children. Acta paediatrica (Oslo, Norway : 1992) 2026. link 14 Wang W, Dong Y, Zhang L, Gao R, Chen M, Zhang B et al.. Nanomachine-Based Flexible Bubbles for Alleviating Long QT Syndrome. Advanced healthcare materials 2026. link 15 Rudquist EV, Neves R, Bains S, Bos JM, Giudicessi JR, Ackerman MJ. Characteristics, clinical course, and cardiac events of patients with previously asymptomatic long QT syndrome. Heart rhythm 2026. link 16 Choi J, Ding D, Gollatz EM, Harbuzariu A, Itzhaki I. Characterization of an induced pluripotent stem cell line from a long QT syndrome type 1 patient possessing the KCNQ1 c.691C > T (p.Arg231Cys) variant. Stem cell research 2026. link 17 Wilders R. Silencing the Mutant . Frontiers in bioscience (Landmark edition) 2026. link 18 Deissler PM, Rahm AK, Berkovitch A, Müller ME, Sikking M, Heymans S et al.. Temporal variability of the electromechanical window in long-QT syndrome and drug-induced QT prolongation: Value for enhanced arrhythmia-risk assessment. Heart rhythm 2026. link 19 Devaris A, Cole Y, Hojnicki M. Newborn With Abnormal ECG and Family History of Sudden Cardiac Arrest. NeoReviews 2026. link 20 Kumar P, Harish P, Mondal S, Namboodiri N. Clinical Mechanistic Insights Into Polymorphic Ventricular Tachycardia: Infection-Triggered Unmasking of Long QT Syndrome. The American journal of cardiology 2026. link 21 Neves R, Crotti L, Bains S, Bos JM, Ye D, Dagradi F et al.. A Phenotype-Enhanced Variant Classification Framework to Decrease the Burden of Variants of Uncertain Significance in Type 2 Long QT Syndrome. JACC. Clinical electrophysiology 2026. link 22 Arab Z, Shayanfar N, Mojaver MR, Khormali M, Boskabady MH, Niazmand S. Cardiopulmonary crosstalk in Long COVID: a systematic review of emerging evidence. BMC cardiovascular disorders 2025. link 23 Calabrese LH, Calabrese C. Long COVID for the Rheumatologist: Current Understanding and Approach to Management. Rheumatic diseases clinics of North America 2025. link 24 Gaudreau-Majeau F, Gagnon C, Djedaa SC, Bérubé B, Malo J, Iglesies-Grau J et al.. Cardiopulmonary rehabilitation's influence on cognitive functions, psychological state, and sleep quality in long COVID-19 patients: A randomized controlled trial. Neuropsychological rehabilitation 2025. link 25 Besnier F, Malo J, Mohammadi H, Clavet S, Klai C, Martin N et al.. Effects of Cardiopulmonary Rehabilitation on Cardiorespiratory Fitness and Clinical Symptom Burden in Long COVID: Results From the COVID-Rehab Randomized Controlled Trial. American journal of physical medicine & rehabilitation 2025. link 26 Wolfes J, Sörgel R, Ellermann C, Frommeyer G, Eckardt L. Mechanisms underlying the spontaneous termination of torsades de pointes in an experimental model of long QT syndrome. Heart rhythm 2025. link 27 Allam H, Dang NL, Karasalihovic E, Miller N, Roelle L, Orr WB et al.. Holter Monitor QT Dispersion and QTc-Dispersion in Pediatric Long QT Syndrome and Development of a Diagnostic and Arrhythmia Risk Prediction Model. Journal of the American Heart Association 2025. link 28 Kruger A, Joffe D, Lloyd-Jones G, Khan MA, Šalamon Š, Laubscher GJ et al.. Vascular Pathogenesis in Acute and Long COVID: Current Insights and Therapeutic Outlook. Seminars in thrombosis and hemostasis 2025. link 29 Sato A, Takahashi T, Kuwata S, Nakano S, Koizumi J, Saiki H et al.. Electrical storm induced by premature ventricular beat with extremely short coupling interval in a patient with long QT syndrome type 3. Journal of electrocardiology 2025. link 30 Stojanovic M, Djuric M, Nenadic I, Bojic S, Andrijevic A, Popovic A et al.. Vascular Complications of Long COVID-From Endothelial Dysfunction to Systemic Thrombosis: A Systematic Review. International journal of molecular sciences 2025. link 31 Lawley CM, Khodaghalian B, French N, Oates S, Kaski JP, Starling L. Evaluation of infants born to a parent with gene-positive long QT syndrome: a retrospective single-centre review. Archives of disease in childhood. Fetal and neonatal edition 2025. link 32 Zhang C, Shao D, Zheng X, Hao L. The mechanism of LQTS related CaM mutation E141G interfering with Ca. Journal of physiology and biochemistry 2025. link 33 Arteyeva NV, Osadchii OE. Electrocardiographic marker of ventricular action potential triangulation (the simulation study). Journal of electrocardiology 2025. link 34 Krijger Juárez C, Proost VM, Tanck MW, Dittmann S, Bos JM, Crotti L et al.. Novel risk predictor of arrhythmias for patients with potassium channel-related congenital long QT syndrome. Heart rhythm 2025. link 35 Yang J, Li K, Liu F, Kong L, Liu Y, She F et al.. Left ventricular hypertrabeculation is a novel predictor of life-threatening arrhythmic events in long QT syndrome patients. Orphanet journal of rare diseases 2025. link 36 Neves R, Crotti L, Bains S, Bos JM, Dagradi F, Musu G et al.. Frequency of and outcomes associated with nonadherence to guideline-based recommendations for an implantable cardioverter-defibrillator in patients with congenital long QT syndrome. Heart rhythm 2025. link 37 Zhuo C, Zhang Y, Li C, Yang L, Zhang Q, Li R et al.. Network pharmacology and molecular docking-based strategy to determine the potential mechanism for escitalopram-mediated long QT syndrome. Journal of affective disorders 2025. link 38 Sueblinvong V, Zhang S, Varga P. Atrial Arrhythmia and Bradycardia as a Presentation of Congenital Long QT Syndrome. Pediatric cardiology 2025. link 39 Li X, Zhang J, Wang X, Pu D, Zhang Z, Niu Y et al.. Human induced pluripotent stem cell line XXMUFAi001-A generated from a patient harboring KCNH2 mutation (c. 2690 A>C). Stem cell research 2025. link 40 Huisman LA, Martin S, Ewasiuk E, McAdam A, Wood Lynes-Ford K, McCormick R et al.. The multigenerational impact of long QT syndrome: A Gitxsan perspective. Journal of genetic counseling 2025. link 41 Gunamalai L, Singh P, Berg B, Shi L, Sanchez E, Smith A et al.. Functional characterization of QT interval associated SCN5A enhancer variants identify combined additive effects. HGG advances 2025. link 42 Zhao X, Sun J, Huang D. Meta-analysis application to hERG safety evaluation in clinical trials. Journal of biopharmaceutical statistics 2025. link 43 Sugiyama A, Goto A, Izumi-Nakaseko H, Takei Y, Takahara A, Kambayashi R. Drug-induced long QT syndrome: Concept and nonclinical models for predicting the onset of drug-induced torsade de pointes in patients in compliance with International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use (ICH) E14/S7B guidance. The Journal of pharmacology and experimental therapeutics 2025. link 44 Cheng X, Cao M, Yeung WF, Cheung DST. The effectiveness of exercise in alleviating long COVID symptoms: A systematic review and meta-analysis. Worldviews on evidence-based nursing 2024. link 45 Couzin-Frankel J. Lessons in persistence. Science (New York, N.Y.) 2024. link 46 Clauw DJ, Calabrese L. Rheumatology and Long COVID: lessons from the study of fibromyalgia. Annals of the rheumatic diseases 2024. link 47 Szarvas Z, Fekete M, Szollosi GJ, Kup K, Horvath R, Shimizu M et al.. Optimizing cardiopulmonary rehabilitation duration for long COVID patients: an exercise physiology monitoring approach. GeroScience 2024. link 48 Shafqat A, Masters MC, Tripathi U, Tchkonia T, Kirkland JL, Hashmi SK. Long COVID as a disease of accelerated biological aging: An opportunity to translate geroscience interventions. Ageing research reviews 2024. link 49 Krug E, Geckeler KC, Frishman WH. Cardiovascular Manifestations of Long COVID: A Review. Cardiology in review 2024. link 50 Lewetag RD, Nimani S, Alerni N, Hornyik T, Jacobi SF, Moss R et al.. Mechano-electrical interactions and heterogeneities in wild-type and drug-induced long QT syndrome rabbits. The Journal of physiology 2024. link 51 Hermida A, Gourraud JB, Denjoy I, Fressart V, Kyndt F, Maltret A et al.. Type 3 long QT syndrome: Is the effectiveness of treatment with beta-blockers population-specific?. Heart rhythm 2024. link 52 Wu X, Xiang M, Jing H, Wang C, Novakovic VA, Shi J. Damage to endothelial barriers and its contribution to long COVID. Angiogenesis 2024. link 53 Qi M, Ma S, Liu J, Liu X, Wei J, Lu WJ et al.. In Vivo Base Editing of . Circulation 2024. link 54 Yoshinaga M, Ninomiya Y, Tanaka Y, Fukuyama M, Kato K, Ohno S et al.. Holter Electrocardiographic Approach to Predicting Outcomes of Pediatric Patients With Long QT Syndrome. Circulation journal : official journal of the Japanese Circulation Society 2024. link 55 Delinière A, Jaupart L, Janin A, Millat G, Boulin T, Andrini O et al.. Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndrome. Gene 2024. link 56 Neves R, Bains S, Bos JM, MacIntyre C, Giudicessi JR, Ackerman MJ. Precision therapy in congenital long QT syndrome. Trends in cardiovascular medicine 2024. link 57 Couzin-Frankel J. New Long Covid cases decline with Omicron. Science (New York, N.Y.) 2023. link 58 Ghram A, Latiri I, Methnani J, Souissi A, Benzarti W, Toulgui E et al.. Effects of cardiorespiratory rehabilitation program on submaximal exercise in patients with long-COVID-19 conditions: a systematic review of randomized controlled trials and recommendations for future studies. Expert review of respiratory medicine 2023. link 59 Chee YJ, Fan BE, Young BE, Dalan R, Lye DC. Clinical trials on the pharmacological treatment of long COVID: A systematic review. Journal of medical virology 2023. link 60 Hikmet RG, Wejse C, Agergaard J. Effect of Vitamin D in Long COVID Patients. International journal of environmental research and public health 2023. link 61 Cai D, Zheng Z, Jin X, Fu Y, Cen L, Ye J et al.. The Advantages, Challenges, and Future of Human-Induced Pluripotent Stem Cell Lines in Type 2 Long QT Syndrome. Journal of cardiovascular translational research 2023. link 62 Jimenez-Tellez N, Vera CD, Yildirim Z, Vicente Guevara J, Zhang T, Wu JC. Generation of two iPSC lines from long QT syndrome patients carrying SNTA1 variants. Stem cell research 2023. link 63 Messinger-Rapport B, Grubb B. Patient-Centered Paradigm for Managing Autonomic Long COVID Symptoms During Sports and Exercise. Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine 2023. link 64 Chivers S, Ovadia C, Regan W, Zidere V, Vigneswaran T, Sharland G et al.. Systematic review of long QT syndrome identified during fetal life. Heart rhythm 2023. link 65 Miller JA, Moise N, Weinberg SH. Modeling incomplete penetrance in long QT syndrome type 3 through ion channel heterogeneity: an in silico population study. American journal of physiology. Heart and circulatory physiology 2023. link 66 O'Neill MJ, Sala L, Denjoy I, Wada Y, Kozek K, Crotti L et al.. Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies. Genetics in medicine : official journal of the American College of Medical Genetics 2023. link 67 Shenoy PU, Udupa H, Ks J, Babu S, K N, Jain N et al.. The impact of COVID-19 on pulmonary, neurological, and cardiac outcomes: evidence from a Mendelian randomization study. Frontiers in public health 2023. link 68 Stephenson T, Shafran R, Ladhani SN. Long COVID in children and adolescents. Current opinion in infectious diseases 2022. link 69 . Clinical Guidelines for Long COVID Await a Better Definition of the Syndrome. The American journal of nursing 2022. link 70 Couzin-Frankel J. Private venture tackles Long Covid, aims to test drugs soon. Science (New York, N.Y.) 2022. link 71 Matsuo J, Yamaori S. Detecting drug-drug interactions that increase the incidence of long QT syndrome using a spontaneous reporting system. Journal of clinical pharmacy and therapeutics 2022. link 72 Bains S, Dotzler SM, Krijger C, Giudicessi JR, Ye D, Bikker H et al.. A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome. Heart rhythm 2022. link 73 Wilde AAM, Amin AS, Postema PG. Diagnosis, management and therapeutic strategies for congenital long QT syndrome. Heart (British Cardiac Society) 2022. link 74 Akgun-Dogan O, Ağaoğlu NB, K Demirkol Y, Doğanay L, Ergül Y, Karacan M. Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1. Journal of cardiovascular electrophysiology 2022. link 75 Zhu E, Gabriele M, Nguyen MT. The Use of Intravenous Lidocaine in the Setting of Chronic Dofetilide Overdose: A Case Report. Journal of pharmacy practice 2022. link 76 Dusi V, Pugliese L, De Ferrari GM, Odero A, Crotti L, Dagradi F et al.. Left Cardiac Sympathetic Denervation for Long QT Syndrome: 50 Years' Experience Provides Guidance for Management. JACC. Clinical electrophysiology 2022. link 77 Funke-Chambour M, Bridevaux PO, Clarenbach CF, Soccal PM, Nicod LP, von Garnier C. Swiss Recommendations for the Follow-Up and Treatment of Pulmonary Long COVID. Respiration; international review of thoracic diseases 2021. link 78 Treadwell J, Crocker J, Rushforth A, Mahtani K, Greenhalgh T. GPs' use and understanding of the benefits and harms of treatments for long-term conditions: a qualitative interview study. The British journal of general practice : the journal of the Royal College of General Practitioners 2021. link 79 Aksu T, Guler TE, Bozyel S, Yalin K, Gopinathannair R. Potential therapeutic effects of electrogram-guided cardioneuroablation in long QT syndrome: case series. Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing 2021. link 80 Zhang R, Ding C, Wang H. Treatment on arrhythmia electric storm in a Jervell and Lange-Nielsen syndrome patient by ablation of the triggering premature ventricular contraction: a case report. Annals of palliative medicine 2021. link 81 Markunas AM, Manivannan PKR, Ezekian JE, Agarwal A, Eisner W, Alsina K et al.. TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death. American journal of medical genetics. Part A 2021. link 82 Vaksmann G, Lucidarme S, Henriet E. Fetal ventricular tachycardia: betablockers should be the first line treatment. Journal of gynecology obstetrics and human reproduction 2021. link 83 S Beserra S, Roman-Campos D. Impact of pacing frequency in amiodarone interaction with cardiomyocytes near physiological temperature in health and disease conditions. Basic & clinical pharmacology & toxicology 2021. link 84 Lampridis S, Antonopoulos A, Kakos C, Mitsos S, Patrini D, Lawrence DR et al.. Video-thoracoscopic left cardiac sympathetic denervation for long-QT syndrome. Asian cardiovascular & thoracic annals 2021. link 85 Wu X, Hoeker GS, Blair GA, King DR, Gourdie RG, Weinberg SH et al.. Hypernatremia and intercalated disc edema synergistically exacerbate long-QT syndrome type 3 phenotype. American journal of physiology. Heart and circulatory physiology 2021. link 86 Gupta P, Agstam S, Yadav A, Ghosh S. Malignant prolongation of the QTc interval due to severe vitamin D deficiency: an unusual presentation. BMJ case reports 2020. link 87 Cuneo BF, Kaizer AM, Clur SA, Swan H, Herberg U, Winbo A et al.. Mothers with long QT syndrome are at increased risk for fetal death: findings from a multicenter international study. American journal of obstetrics and gynecology 2020. link 88 Määttänen I, Ravaja N, Henttonen P, Puttonen S, Paavonen K, Swan H et al.. Type 1 long QT syndrome and psychological stress in a laboratory setting. Journal of health psychology 2020. link 89 Ng CA, Perry MD, Liang W, Smith NJ, Foo B, Shrier A et al.. High-throughput phenotyping of heteromeric human ether-à-go-go-related gene potassium channel variants can discriminate pathogenic from rare benign variants. Heart rhythm 2020. link 90 Dixit G, Dabney-Smith C, Lorigan GA. The membrane protein KCNQ1 potassium ion channel: Functional diversity and current structural insights. Biochimica et biophysica acta. Biomembranes 2020. link 91 Robertson GA, Morais-Cabral JH. hERG Function in Light of Structure. Biophysical journal 2020. link 92 Mattivi CL, Ye D, Tester DJ, Clemens DJ, Zhou W, Giudicessi JR et al.. Utilization of the genome aggregation database, in silico tools, and heterologous expression patch-clamp studies to identify and demote previously published type 2 long QT syndrome: Causative variants from pathogenic to likely benign. Heart rhythm 2020. link 93 Kambayashi R, Hagiwara-Nagasawa M, Goto A, Chiba K, Izumi-Nakaseko H, Naito AT et al.. Experimental analysis of the onset mechanism of TdP reported in an LQT3 patient during pharmacological treatment with serotonin-dopamine antagonists against insomnia and nocturnal delirium. Heart and vessels 2020. link 94 Kaemingk BD, Ulrich TJ, Li M, Carey WA, Ellsworth MA. Universal Electrocardiographic Screening for Long QT Syndrome in Hospitalized Neonates. American journal of perinatology 2020. link 95 Newham JJ, Forman J, Heys M, Cousens S, Lemer C, Elsherbiny M et al.. Children and Young People's Health Partnership (CYPHP) Evelina London model of care: protocol for an opportunistic cluster randomised controlled trial (cRCT) to assess child health outcomes, healthcare quality and health service use. BMJ open 2019. link 96 Surman TL, Stuklis RG, Chan JC. Thoracoscopic Sympathectomy for Long QT Syndrome. Literature Review and Case Study. Heart, lung & circulation 2019. link 97 Galtrey CM, Levee V, Arevalo J, Wren D. Long QT syndrome masquerading as epilepsy. Practical neurology 2019. link 98 Shah SR, Park K, Alweis R. Long QT Syndrome: A Comprehensive Review of the Literature and Current Evidence. Current problems in cardiology 2019. link 99 Wu J, Sakaguchi T, Takenaka K, Toyoda F, Tsuji K, Matsuura H et al.. A trafficking-deficient KCNQ1 mutation, T587M, causes a severe phenotype of long QT syndrome by interfering with intracellular hERG transport. Journal of cardiology 2019. link 100 Fan LL, Chen YQ, Huang H, Yuan ZZ, Jin JY, Hu M et al.. Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope. Journal of human genetics 2019. link

    Original source

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      Prevalence, spectrum, and outcomes in patients with nonpenetrant long QT syndrome.Rudquist EV, Neves R, Bains S, Bos JM, Giudicessi JR, Ackerman MJ Heart rhythm (2026)
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      High-throughput screening identifies a trafficking corrector for long QT syndrome-associated KCNQ1 variants.Moster KRC, Vanoye CG, Chang-Gonzalez AC, Romaine IM, Stefanski KM, Wilkinson MC et al. JCI insight (2026)
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      Spatial Coefficient of Variation (sCOV) From ASL MRI Reveals Global Cerebrovascular Dysfunction in Long COVID.Cataldo SA, Horovitz SG, Margulis L, Micciulli A, Sarmiento F, Monteleone M et al. NMR in biomedicine (2026)
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