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Last Posted: Mar 21, 2024

• Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance.
  Jane Murphy et al. Ir J Med Sci 2024
• Deep Learning-Augmented ECG Analysis for Screening and Genotype Prediction of Congenital Long QT Syndrome.
  River Jiang et al. JAMA Cardiol 2024
• "Inherited cardiovascular disease mindset" can identify concealed inherited conditions at cardio-oncology evaluation: An opportunistic screening.
  Rebeca Lorca et al. Int J Cardiol 2024 131825
• Unraveling Complexities in Genetically Elusive Long QT Syndrome.
  Babken Asatryan et al. Circ Arrhythm Electrophysiol 2024 e012356
• Assessment of Sudden Cardiac Death Risk in Pediatric Primary Electrical Disorders: A Comprehensive Overview.
  Adelina Pupaza et al. Diagnostics (Basel) 2023 13(23)
• Real-world utilization of guideline-directed genetic testing in inherited cardiovascular diseases.
  Mauro Longoni et al. Front Cardiovasc Med 2023 101272433
• Return-to-Play for Elite Athletes With Genetic Heart Diseases Predisposing to Sudden Cardiac Death.
  Katherine A Martinez et al. J Am Coll Cardiol 2023 82(8) 661-670
• hERG agonists pose challenges to web-based machine learning methods for prediction of drug-hERG channel interaction.
  Aziza E L Harchi et al. J Pharmacol Toxicol Methods 2023 107293
• EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.
  Jesse B Hayesmoore et al. Eur J Hum Genet 2023
• The diagnostic value of electrocardiogram-based machine learning in long QT syndrome: a systematic review and meta-analysis.
  Min-Juan Wu et al. Front Cardiovasc Med 2023 101172451
• Management of Inherited Arrhythmia Syndromes: A HiRO Consensus Handbook on Process of Care.
  Mikyla L Janzen et al. CJC Open 2023 5(4) 268-284
• Spotlight on the 2022 ESC guideline management of ventricular arrhythmias and prevention of sudden cardiac death: 10 novel key aspects.
  Hilke Könemann et al. Europace 2023
• Phenotypes of Overdiagnosed Long QT Syndrome.
  Sahej Bains et al. Journal of the American College of Cardiology 2023 81(5) 477-486
• Systematic review of long QT syndrome identified during fetal life.
  Chivers Sian et al. Heart rhythm 2022
• Interpretable Machine Learning Prediction of Drug-Induced QT Prolongation: Electronic Health Record Analysis.
  Simon Steven T et al. Journal of medical Internet research 2022 24(12) e42163
• Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.
  Chen Jia et al. Orphanet journal of rare diseases 2022 17(1) 394
• The Outcome of Long QT Syndrome, a Korean Single Center Study.
  Ahn Kyung Jin et al. Korean circulation journal 2022 52(10) 771-781
• Genetic variants in Colombian patients with inherited cardiac conditions.
  Rucinski Cynthia et al. Molecular genetics & genomic medicine 2022 e2046
• Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics.
  Nafissi Navid A et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN121003675
• Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
  Halford Jennifer L et al. Nature communications 2022 13(1) 5106
• Prolonged QT interval in athletes: Distinguishing between pathology and physiology.
  Christou Georgios A et al. Cardiology 2022
• Utility of Provocative Testing in the Diagnosis and Genotyping of Congenital Long QT Syndrome: A Systematic Review and Meta-Analysis.
  Yang Ying et al. Journal of the American Heart Association 2022 11(14) e025246
• Precision Therapy in Congenital Long QT Syndrome.
  Neves Raquel et al. Trends in cardiovascular medicine 2022
• A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome.
  Jiang Connie et al. American journal of human genetics 2022
• Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty.
  Rosamilia Michael B et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN121003491
• Noncancer-related Secondary Findings in a Cohort of 231 Children With Cancer and Their Parents.
  Wagener Rabea et al. Journal of pediatric hematology/oncology 2022
• Experiences of athletes with arrhythmogenic cardiac conditions in returning to play.
  Shapero Kayle et al. Heart rhythm O2 2022 3(2) 133-140
• KCNH2 p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort.
  Lorca Rebeca et al. Life (Basel, Switzerland) 2022 12(4)
• shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele.
  Cócera-Ortega Lucía et al. International journal of molecular sciences 2022 23(7)
• Left Cardiac Sympathetic Denervation for Long QT Syndrome: 50 Years' Experience Provides Guidance for Management.
  Dusi Veronica et al. JACC. Clinical electrophysiology 2022 8(3) 281-294
• Prevalence of Inherited Cardiac Conditions in Pediatric First-Degree Relatives of Patients with Idiopathic Ventricular Fibrillation.
  Brunet-Garcia Laia et al. Pediatric cardiology 2022
• A Phenotype-Enhanced Variant Classification Framework to Decrease the Burden of Missense Variants of Uncertain Significance in Type 1 Long QT Syndrome.
  Bains Sahej et al. Heart rhythm 2021
• Clinical and genetic spectrum of neonatal arrhythmia in a NICU.
  Dai Yi et al. Translational pediatrics 2021 10(10) 2432-2438
• Return-to-Play for Athletes With Long QT Syndrome or Genetic Heart Diseases Predisposing to Sudden Death.
  Tobert Kathryn E et al. Journal of the American College of Cardiology 2021
• Management of Congenital Long-QT Syndrome: Commentary From the Experts.
  Kaufman Elizabeth S et al. Circulation. Arrhythmia and electrophysiology 2021 CIRCEP120009726
• Development and evaluation of decision aids to guide families' predictive testing choices for children at risk for arrhythmia or cardiomyopathy.
  Christian Susan et al. The Canadian journal of cardiology 2021
• Clinical utility gene card for: Long-QT syndrome.
  Beckmann Britt M et al. European journal of human genetics : EJHG 2021
• Genetic Variants Associated With Unexplained Sudden Cardiac Death in Adult White and African American Individuals
  L Guo et al, JAMA Cardiology, June 2, 2021
• Clinical and genetic characteristics and course of congenital long QT syndrome in children: A nine-year single-center experience.
  Ergül Yakup et al. Anatolian journal of cardiology 2021 25(4) 250-257
• Genetic Risk Assessment for Atherosclerotic Cardiovascular Disease: A Guide for the General Cardiologist.
  Belanger Matthew J et al. Cardiology in review 2021
• Use of Artificial Intelligence and Deep Neural Networks in Evaluation of Patients With Electrocardiographically Concealed Long QT Syndrome From the Surface 12-Lead Electrocardiogram.
  Bos J Martijn et al. JAMA cardiology 2021 Feb
• Suppression-Replacement KCNQ1 Gene Therapy for Type 1 Long QT Syndrome.
  Dotzler Steven M et al. Circulation 2021 Jan
• Diagnosis, family screening, and treatment of inherited arrhythmogenic diseases in Europe: results of the European Heart Rhythm Association Survey.
  Conte Giulio et al. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2020 Dec 22(12) 1904-1910
• Clinical Implications and Gender Differences of KCNQ1 p.Gly168Arg Pathogenic Variant in Long QT Syndrome.
  Lorca Rebeca et al. Journal of clinical medicine 2020 Nov 9(12)
• KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road from Identification to Implementation of Culturally Appropriate Precision Medicine.
  Streeten Elizabeth A et al. Circulation. Genomic and precision medicine 2020 Nov
• Systematic Evaluation of KCNQ1 Variant Using ACMG/AMP Guidelines and Risk Stratification in Long QT Syndrome Type 1.
  Kashiwa Asami et al. Circulation. Genomic and precision medicine 2020 Sep
• Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
  Walsh Roddy et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Sep
• Inherited cardiac arrhythmias
  PJ Shwartz et al, Nat Rev Dis Primers, July 2020
• An NGS-based genotyping in LQTS; minor genes are no longer minor.
  Ohno Seiko et al. Journal of human genetics 2020 Jul
• A Population-Based Registry of Patients With Inherited Cardiac Conditions and Resuscitated Cardiac Arrest.
  Rucinski Cynthia et al. Journal of the American College of Cardiology 2020 Jun 75(21) 2698-2707
• Patients with Genetic Heart Disease and COVID-19: A Cardiac Society of Australia and New Zealand (CSANZ) Consensus Statement.
  Gray Belinda et al. Heart, lung & circulation 2020 Apr
• Reclassification of genetic variants in children with long QT syndrome.
  Westphal Dominik S et al. Molecular genetics & genomic medicine 2020 May e1300
• Understanding the personal and community impact of long QT syndrome: A perspective from Gitxsan women.
  Huisman Lee-Anna et al. Journal of genetic counseling 2020 Apr
• Genetic testing in Polynesian Long QT Syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants.
  Winbo Annika et al. Heart rhythm 2020 Mar
• A Review of Long QT Syndrome: Everything a Hospitalist Should Know.
  Sharma Nandita et al. Hospital pediatrics 2020 Mar
• Intentional Non-Therapy in Long QT Syndrome (LQTS).
  MacIntyre Ciorsti J et al. Heart rhythm 2020 Feb
• Pre-Test Probability and Genes and Variants of Uncertain Significance in Familial Long QT Syndrome.
  Waddell-Smith Kathryn E et al. Heart, lung & circulation 2020 Jan
• An International, Multicentered, EvidenceBased Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
  Adler Arnon et al. Circulation 2020 Jan
• Epidemiology and Clinical Characteristics of Atrial Fibrillation in Patients with Inherited Heart Diseases.
  Butters Alexandra et al. Journal of cardiovascular electrophysiology 2020 Jan
• Genetic Testing in Inherited Heart Diseases.
  Ingles Jodie et al. Heart, lung & circulation 2019 Nov
• Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders.
  Marschall Christoph et al. Cardiovascular diagnosis and therapy 2019 Oct 9(Suppl 2) S292-S298
• Update on the Diagnosis and Management of Familial Long QT Syndrome.
  Waddell-Smith Kathryn E et al. Heart, lung & circulation 2016 Aug 25(8) 769-76
• Update on Long QT Syndrome.
  Neira Víctor et al. Journal of cardiovascular electrophysiology 2019 Oct
• Mental stress test: a rapid, simple, and efficient test to unmask long QT syndrome.
  Etienne Pauline et al. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2018 20(12) 2014-2020
• Genetics of Unexplained Sudden Cardiac Death in Adult Caucasian and African American Individuals Living in the State of Maryland
  L Guo et al, MedRXIV, September 24, 2019
• Mothers with long QT syndrome are at increased risk for fetal death: Findings from a multicenter international study.
  Cuneo Bettina F et al. American journal of obstetrics and gynecology 2019 Sep
• Towards Precision Medicine With Human iPSCs for Cardiac Channelopathies.
  Wu Joseph C et al. Circulation research 2019 Aug 125(6) 653-658
• Long QT Syndrome: Genetics and Future Perspective.
  Wallace Eimear et al. Pediatric cardiology 2019 Aug
• DNA Testing for All? By incorporating genetic testing into primary care, it might be possible not only to detect diseases and treat them early, but to fend them off altogether.
  A Weintraub, US News, August 20, 2019
• Beyond the One Gene-One Disease Paradigm: Complex Genetics and Pleiotropy in Inheritable Cardiac Disorders
  Cerrone Marina et al. Circulation 2019 140(7) 595-610

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