{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T19:21:37Z","timestamp":1792524097946,"version":"4.5.0"},"reference-count":102,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T00:00:00Z","timestamp":1744588800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCDD"],"abstract":"<jats:p>Congenital long QT syndrome (LQTS) is a group of heritable conditions that are associated with cardiac repolarization abnormalities characterized by QT prolongation on electrocardiogram and the risk of life-threatening arrhythmias. The prenatal detection of LQTS presents significant challenges for clinicians, and a multidisciplinary approach is required for optimal prenatal and postnatal management. In this comprehensive literature review, we describe strategies for the fetal diagnosis of LQTS with variable initial presentation, genetic testing in suspected fetal LQTS, the utility of fetal magnetocardiography as an additional diagnostic tool, prenatal management, and postnatal treatment. We focus on a multidisciplinary team approach including fetal cardiology, adult and pediatric electrophysiology, neonatology, maternal\u2013fetal medicine, and genetic counselors, all playing vital roles in the comprehensive prenatal management and orchestration of postnatal treatment to optimize neonatal outcomes.<\/jats:p>","DOI":"10.3390\/jcdd12040156","type":"journal-article","created":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T06:18:36Z","timestamp":1744611516000},"page":"156","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["The Prenatal Diagnosis and Perinatal Management of Congenital Long QT Syndrome: A Comprehensive Literature Review and Recent Updates"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2906-0651","authenticated-orcid":false,"given":"Stefani","family":"Samples","sequence":"first","affiliation":[{"name":"Division of Pediatric Cardiology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Cherny","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nitin","family":"Madan","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Children\u2019s Mercy Kansas City, Ward Family Heart Center, UMKC School of Medicine, Kansas City, MO 64108, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeff","family":"Hong","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheena A.","family":"Mansukhani","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6986-2544","authenticated-orcid":false,"given":"Janette F.","family":"Strasburger","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Pediatrics and Biomedical Engineering, Children\u2019s Wisconsin, Herma Heart Institute, Medical College of Wisconsin, Milwaukee, WI 26509, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0345-0341","authenticated-orcid":false,"given":"Michael R.","family":"Carr","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4257-1103","authenticated-orcid":false,"given":"Sheetal R.","family":"Patel","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.hrthm.2022.12.026","article-title":"Systematic Review of Long Qt Syndrome Identified During Fetal Life","volume":"20","author":"Chivers","year":"2023","journal-title":"Heart Rhythm"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1016\/j.hrcr.2022.07.007","article-title":"Presentation and Genetic Confirmation of Long Qt Syndrome in the Fetus","volume":"8","author":"Zidere","year":"2022","journal-title":"HeartRhythm Case Rep."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1761","DOI":"10.1161\/CIRCULATIONAHA.109.863209","article-title":"Prevalence of the Congenital Long-Qt Syndrome","volume":"120","author":"Crotti","year":"2009","journal-title":"Circulation"},{"key":"ref_4","first-page":"CJ-24","article-title":"Screening of 1-Month-Old Infants with Prolonged Qt Interval and Its Cutoff Value","volume":"148","author":"Yoshinaga","year":"2025","journal-title":"Circ. J."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1136\/hrt.77.3.198","article-title":"Prenatal Findings in Patients with Prolonged Qt Interval in the Neonatal Period","volume":"77","author":"Hofbeck","year":"1997","journal-title":"Heart"},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Killen, S.A.S., and Strasburger, J.F. (2024). Diagnosis and Management of Fetal Arrhythmias in the Current Era. J. Cardiovasc. Dev. Dis., 11.","DOI":"10.3390\/jcdd11060163"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1001\/jama.2013.3219","article-title":"Long Qt Syndrome-Associated Mutations in Intrauterine Fetal Death","volume":"309","author":"Crotti","year":"2013","journal-title":"JAMA"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"e008082","DOI":"10.1161\/CIRCEP.119.008082","article-title":"Complex and Novel Arrhythmias Precede Stillbirth in Fetuses with De Novo Long Qt Syndrome","volume":"13","author":"Strand","year":"2020","journal-title":"Circ. Arrhythm. Electrophysiol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"102183","DOI":"10.1016\/j.jaccas.2023.102183","article-title":"Low Baseline Fetal Heart Rate Leads to Diagnosis of Long Qt Syndrome Type 1","volume":"29","author":"Polic","year":"2024","journal-title":"JACC Case Rep."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"2688","DOI":"10.1161\/CIRCULATIONAHA.112.114132","article-title":"Fetal Heart Rate Predictors of Long Qt Syndrome","volume":"126","author":"Cuneo","year":"2012","journal-title":"Circulation"},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Chaudhry-Waterman, N., Dara, B., Bucholz, E., Obregon, C.L., Grenier, M., Snyder, K., and Cuneo, B.F. (2023). Fetal Heart Rate < 3rd Percentile for Gestational Age Can Be a Marker of Inherited Arrhythmia Syndromes. J. Clin. Med., 12.","DOI":"10.3390\/jcm12134464"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"e005797","DOI":"10.1161\/CIRCEP.117.005797","article-title":"Left Ventricular Isovolumetric Relaxation Time Is Prolonged in Fetal Long-Qt Syndrome","volume":"11","author":"Clur","year":"2018","journal-title":"Circ. Arrhythm. Electrophysiol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/j.jacep.2023.09.023","article-title":"Isovolumic Relaxation Time and Repolarization in Fetuses at Risk of Long Qt Syndrome","volume":"10","author":"Phan","year":"2024","journal-title":"JACC Clin. Electrophysiol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"e3","DOI":"10.1016\/j.ajog.2012.06.058","article-title":"Prenatal Diagnosis of Long Qt Syndrome with the Superior Vena Cava-Aorta Doppler Approach","volume":"207","author":"Chabaneix","year":"2012","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Wacker-Gussmann, A., Eckstein, G.K., and Strasburger, J.F. (2023). Preventing and Treating Torsades De Pointes in the Mother, Fetus and Newborn in the Highest Risk Pregnancies with Inherited Arrhythmia Syndromes. J. Clin. Med., 12.","DOI":"10.3390\/jcm12103379"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1097\/FM9.0000000000000237","article-title":"Antenatal Noninvasive Fetal Electrocardiography: A Literature Review","volume":"06","author":"Pegorie","year":"2024","journal-title":"Matern.-Fetal Med."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Vullings, R., and van Laar, J. (2020). Non-Invasive Fetal Electrocardiography for Intrapartum Cardiotocography. Front. Pediatr., 8.","DOI":"10.3389\/fped.2020.599049"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1159\/000508043","article-title":"Noninvasive Fetal Electrocardiography in the Diagnosis of Long Qt Syndrome: A Case Series","volume":"47","author":"Sethi","year":"2020","journal-title":"Fetal Diagn. Ther."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"20480040221096209","DOI":"10.1177\/20480040221096209","article-title":"Measurement of the Cardiac Time Intervals of the Fetal Ecg Utilising a Computerised Algorithm: A Retrospective Observational Study","volume":"11","author":"Chivers","year":"2022","journal-title":"JRSM Cardiovasc. Dis."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"e025224","DOI":"10.1161\/JAHA.121.025224","article-title":"Contribution of Fetal Magnetocardiography to Diagnosis, Risk Assessment, and Treatment of Fetal Arrhythmia","volume":"11","author":"Strasburger","year":"2022","journal-title":"J. Am. Heart Assoc."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1055\/s-0034-1372430","article-title":"Diagnosis and Treatment of Fetal Arrhythmia","volume":"31","author":"Strasburger","year":"2014","journal-title":"Am. J. Perinatol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"e013436","DOI":"10.1161\/JAHA.119.013436","article-title":"Low-Cost Fetal Magnetocardiography: A Comparison of Superconducting Quantum Interference Device and Optically Pumped Magnetometers","volume":"8","author":"Strand","year":"2019","journal-title":"J. Am. Heart Assoc."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1016\/S0002-9149(03)00343-6","article-title":"Prenatal Diagnosis and in Utero Treatment of Torsades De Pointes Associated with Congenital Long Qt Syndrome","volume":"91","author":"Cuneo","year":"2003","journal-title":"Am. J. Cardiol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"e175","DOI":"10.1016\/j.hrthm.2023.05.017","article-title":"2023 Hrs Expert Consensus Statement on the Management of Arrhythmias During Pregnancy","volume":"20","author":"Joglar","year":"2023","journal-title":"Heart Rhythm"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1111\/pace.13900","article-title":"Fetal Diagnosis of Kcnq1-Variant Long Qt Syndrome Using Fetal Echocardiography and Magnetocardiography","volume":"43","author":"Desai","year":"2020","journal-title":"Pacing Clin. Electrophysiol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"418","DOI":"10.1161\/CIRCULATIONAHA.119.043132","article-title":"An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long Qt Syndrome","volume":"141","author":"Adler","year":"2020","journal-title":"Circulation"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"54","DOI":"10.3343\/alm.2018.38.1.54","article-title":"Application of Multigene Panel Sequencing in Patients with Prolonged Rate-Corrected Qt Interval and No Pathogenic Variants Detected in Kcnq1, Kcnh2, and Scn5a","volume":"38","author":"Seo","year":"2018","journal-title":"Ann. Lab. Med."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"e1673","DOI":"10.1002\/mgg3.1673","article-title":"Expanding the Phenotype of Cacna1c Mutation Disorders","volume":"9","author":"Meyers","year":"2021","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref_29","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., and Amemiya, A. (1993). Andersen-Tawil Syndrome. Genereviews((R)), NCBI."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Kotta, M.C., Sala, L., Ghidoni, A., Badone, B., Ronchi, C., Parati, G., Zaza, A., and Crotti, L. (2018). Calmodulinopathy: A Novel, Life-Threatening Clinical Entity Affecting the Young. Front. Cardiovasc. Med., 5.","DOI":"10.3389\/fcvm.2018.00175"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"2964","DOI":"10.1093\/eurheartj\/ehz311","article-title":"Calmodulin Mutations and Life-Threatening Cardiac Arrhythmias: Insights from the International Calmodulinopathy Registry","volume":"40","author":"Crotti","year":"2019","journal-title":"Eur. Heart J."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1016\/j.hrthm.2018.03.038","article-title":"Long Qt Syndrome Type 5-Lite: Defining the Clinical Phenotype Associated with the Potentially Proarrhythmic P. Asp85asn-Kcne1 Common Genetic Variant","volume":"15","author":"Lane","year":"2018","journal-title":"Heart Rhythm"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"e000067","DOI":"10.1161\/HCG.0000000000000067","article-title":"Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement from the American Heart Association","volume":"13","author":"Musunuru","year":"2020","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1089\/gtmb.2012.0118","article-title":"Results of Genetic Testing in 855 Consecutive Unrelated Patients Referred for Long Qt Syndrome in a Clinical Laboratory","volume":"17","author":"Lieve","year":"2013","journal-title":"Genet. Test. Mol. Biomarkers"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1161\/01.CIR.0000125524.34234.13","article-title":"Compound Mutations: A Common Cause of Severe Long-Qt Syndrome","volume":"109","author":"Westenskow","year":"2004","journal-title":"Circulation"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/j.hrthm.2005.01.020","article-title":"Compendium of Cardiac Channel Mutations in 541 Consecutive Unrelated Patients Referred for Long Qt Syndrome Genetic Testing","volume":"2","author":"Tester","year":"2005","journal-title":"Heart Rhythm"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.hrthm.2012.11.006","article-title":"Risk of Life-Threatening Cardiac Events among Patients with Long Qt Syndrome and Multiple Mutations","volume":"10","author":"Mullally","year":"2013","journal-title":"Heart Rhythm"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1411","DOI":"10.1016\/j.hrthm.2010.06.013","article-title":"Long Qt Syndrome with Compound Mutations Is Associated with a More Severe Phenotype: A Japanese Multicenter Study","volume":"7","author":"Itoh","year":"2010","journal-title":"Heart Rhythm"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1161\/CIRCULATIONAHA.105.592899","article-title":"The Jervell and Lange-Nielsen Syndrome: Natural History, Molecular Basis, and Clinical Outcome","volume":"113","author":"Schwartz","year":"2006","journal-title":"Circulation"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1016\/j.hrthm.2011.05.020","article-title":"Hrs\/Ehra Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies This Document Was Developed as a Partnership between the Heart Rhythm Society (Hrs) and the European Heart Rhythm Association (Ehra)","volume":"8","author":"Ackerman","year":"2011","journal-title":"Heart Rhythm"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1016\/j.hrthm.2022.03.1225","article-title":"European Heart Rhythm Association (Ehra)\/Heart Rhythm Society (Hrs)\/Asia Pacific Heart Rhythm Society (Aphrs)\/Latin American Heart Rhythm Society (Lahrs) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases","volume":"19","author":"Wilde","year":"2022","journal-title":"Heart Rhythm"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1097\/CRD.0000000000000081","article-title":"A Case for Inclusion of Genetic Counselors in Cardiac Care","volume":"24","author":"Arscott","year":"2016","journal-title":"Cardiol. Rev."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1007\/s10897-017-0169-5","article-title":"The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services","volume":"27","author":"Helm","year":"2018","journal-title":"J. Genet. Couns."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1002\/pd.6616","article-title":"Further Exploration of Cardiac Channelopathy and Cardiomyopathy Genes in Stillbirth","volume":"44","author":"Merc","year":"2024","journal-title":"Prenat. Diagn."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"e000086","DOI":"10.1161\/HCG.0000000000000086","article-title":"Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement from the American Heart Association","volume":"14","author":"Landstrom","year":"2021","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_46","doi-asserted-by":"crossref","unstructured":"Westphal, D.S., Hauser, M., Beckmann, B.M., Wolf, C.M., Hessling, G., Oberhoffer-Fritz, R., and Wacker-Gussmann, A. (2022). Fetal Bradycardia Caused by Monogenic Disorders-a Review of the Literature. J. Clin. Med., 11.","DOI":"10.3390\/jcm11236880"},{"key":"ref_47","doi-asserted-by":"crossref","unstructured":"(2016). Practice Bulletin No. 162 Summary: Prenatal Diagnostic Testing for Genetic Disorders. Obstet. Gynecol., 127, 976\u2013978.","DOI":"10.1097\/AOG.0000000000001438"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"e1300","DOI":"10.1002\/mgg3.1300","article-title":"Reclassification of Genetic Variants in Children with Long Qt Syndrome","volume":"8","author":"Westphal","year":"2020","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1001\/jamacardio.2022.2455","article-title":"Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing","volume":"7","author":"Cirino","year":"2022","journal-title":"JAMA Cardiol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/jgc4.1313","article-title":"Changes in Genetic Variant Results over Time in Pediatric Cardiomyopathy and Electrophysiology","volume":"30","author":"Cherny","year":"2021","journal-title":"J. Genet. Couns."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1007\/s12471-019-1250-5","article-title":"Large Next-Generation Sequencing Gene Panels in Genetic Heart Disease: Yield of Pathogenic Variants and Variants of Unknown Significance","volume":"27","author":"Mook","year":"2019","journal-title":"Neth. Heart J."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1016\/j.hlc.2019.12.011","article-title":"Pre-Test Probability and Genes and Variants of Uncertain Significance in Familial Long Qt Syndrome","volume":"29","author":"Skinner","year":"2020","journal-title":"Heart Lung Circ."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.1007\/s00246-019-02203-2","article-title":"Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes Is Predicted by Clinical Factors","volume":"40","author":"Bennett","year":"2019","journal-title":"Pediatr. Cardiol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"2235","DOI":"10.1056\/NEJMsr1406261","article-title":"ClinGen\u2014The Clinical Genome Resource","volume":"372","author":"Rehm","year":"2015","journal-title":"N. Engl. J. Med."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1016\/j.ajhg.2020.09.011","article-title":"Variant Classification Concordance Using the Acmg-Amp Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies","volume":"107","author":"Amendola","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/gim.2017.212","article-title":"Clinically Impactful Differences in Variant Interpretation between Clinicians and Testing Laboratories: A Single-Center Experience","volume":"20","author":"Bland","year":"2018","journal-title":"Genet. Med."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1056\/NEJMsa1507092","article-title":"Genetic Misdiagnoses and the Potential for Health Disparities","volume":"375","author":"Manrai","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1038\/s41436-019-0705-9","article-title":"Variant Interpretation Is a Component of Clinical Practice among Genetic Counselors in Multiple Specialties","volume":"22","author":"Wain","year":"2020","journal-title":"Genet. Med."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.1007\/s10897-018-0287-8","article-title":"All Along the Watchtower: A Case of Long Qt Syndrome Misdiagnosis Secondary to Genetic Testing Misinterpretation","volume":"27","author":"Helm","year":"2018","journal-title":"J. Genet. Couns."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1007\/s10897-017-0175-7","article-title":"Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-Based Variant Classification","volume":"27","author":"Reuter","year":"2018","journal-title":"J. Genet. Couns."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"e000054","DOI":"10.1161\/HCG.0000000000000054","article-title":"Establishment of Specialized Clinical Cardiovascular Genetics Programs: Recognizing the Need and Meeting Standards: A Scientific Statement from the American Heart Association","volume":"12","author":"Ahmad","year":"2019","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1940","DOI":"10.1016\/j.jacc.2018.07.076","article-title":"Home Monitoring for Fetal Heart Rhythm During Anti-Ro Pregnancies","volume":"72","author":"Cuneo","year":"2018","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1016\/j.hroo.2020.05.003","article-title":"Repolarization Predictors of Fetal Long Qt Syndrome","volume":"1","author":"Strand","year":"2020","journal-title":"Heart Rhythm O2"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"S53","DOI":"10.1002\/jcph.2129","article-title":"Fetal Arrhythmia Diagnosis and Pharmacologic Management","volume":"62","author":"Strasburger","year":"2022","journal-title":"J. Clin. Pharmacol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"e937","DOI":"10.1161\/CIR.0000000000001206","article-title":"Pharmacological Management of Cardiac Arrhythmias in the Fetal and Neonatal Periods: A Scientific Statement from the American Heart Association: Endorsed by the Pediatric & Congenital Electrophysiology Society (Paces)","volume":"149","author":"Batra","year":"2024","journal-title":"Circulation"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1055\/s-0038-1637764","article-title":"Predicting the Future: Delivery Room Planning of Congenital Heart Disease Diagnosed by Fetal Echocardiography","volume":"35","author":"Donofrio","year":"2018","journal-title":"Am. J. Perinatol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1017\/S1047951112000583","article-title":"Prenatal Diagnosis of Long Qt Syndrome: Implications for Delivery Room and Neonatal Management","volume":"23","author":"Greene","year":"2013","journal-title":"Cardiol. Young"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1016\/j.amjcard.2012.11.029","article-title":"Specialized Delivery Room Planning for Fetuses with Critical Congenital Heart Disease","volume":"111","author":"Donofrio","year":"2013","journal-title":"Am. J. Cardiol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"3997","DOI":"10.1093\/eurheartj\/ehac262","article-title":"2022 Esc Guidelines for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death","volume":"43","author":"Zeppenfeld","year":"2022","journal-title":"Eur. Heart J."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1161\/01.CIR.77.2.392","article-title":"Treatment of Torsade De Pointes with Magnesium Sulfate","volume":"77","author":"Tzivoni","year":"1988","journal-title":"Circulation"},{"key":"ref_72","first-page":"e272","article-title":"2017 Aha\/Acc\/Hrs Guideline for Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: A Report of the American College of Cardiology\/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society","volume":"138","author":"Stevenson","year":"2018","journal-title":"Circulation"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1161\/CIRCEP.114.002654","article-title":"Follow-up of 316 Molecularly Defined Pediatric Long-Qt Syndrome Patients: Clinical Course, Treatments, and Side Effects","volume":"8","author":"Koponen","year":"2015","journal-title":"Circ. Arrhythm. Electrophysiol."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"2184","DOI":"10.1161\/CIRCULATIONAHA.107.701243","article-title":"Risk Factors for Aborted Cardiac Arrest and Sudden Cardiac Death in Children with the Congenital Long-Qt Syndrome","volume":"117","author":"Goldenberg","year":"2008","journal-title":"Circulation"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1111\/j.1540-8167.2010.01737.x","article-title":"Beta-Blocker Efficacy in High-Risk Patients with the Congenital Long-Qt Syndrome Types 1 and 2: Implications for Patient Management","volume":"21","author":"Goldenberg","year":"2010","journal-title":"J. Cardiovasc. Electrophysiol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1161\/01.CIR.101.6.616","article-title":"Effectiveness and Limitations of Beta-Blocker Therapy in Congenital Long-Qt Syndrome","volume":"101","author":"Moss","year":"2000","journal-title":"Circulation"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"2092","DOI":"10.1016\/j.jacc.2012.07.046","article-title":"Not All Beta-Blockers Are Equal in the Management of Long Qt Syndrome Types 1 and 2: Higher Recurrence of Events under Metoprolol","volume":"60","author":"Chockalingam","year":"2012","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1016\/j.jacc.2014.05.068","article-title":"Efficacy of Different Beta-Blockers in the Treatment of Long Qt Syndrome","volume":"64","author":"Peterson","year":"2014","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1007\/s00246-003-0567-3","article-title":"Beta-Blocker Therapy Failures in Symptomatic Probands with Genotyped Long-Qt Syndrome","volume":"25","author":"Chatrath","year":"2004","journal-title":"Pediatr. Cardiol."},{"key":"ref_80","doi-asserted-by":"crossref","unstructured":"Hirose, S., Makiyama, T., Melgari, D., Yamamoto, Y., Wuriyanghai, Y., Yokoi, F., Nishiuchi, S., Harita, T., Hayano, M., and Kohjitani, H. (2020). Propranolol Attenuates Late Sodium Current in a Long Qt Syndrome Type 3-Human Induced Pluripotent Stem Cell Model. Front. Cell Dev. Biol., 8.","DOI":"10.3389\/fcell.2020.00761"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/j.yjmcc.2009.05.012","article-title":"Molecular Determinants of Local Anesthetic Action of Beta-Blocking Drugs: Implications for Therapeutic Management of Long Qt Syndrome Variant 3","volume":"48","author":"Bankston","year":"2010","journal-title":"J. Mol. Cell Cardiol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1016\/j.jacc.2015.12.033","article-title":"Gene-Specific Therapy with Mexiletine Reduces Arrhythmic Events in Patients with Long Qt Syndrome Type 3","volume":"67","author":"Mazzanti","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_83","doi-asserted-by":"crossref","unstructured":"Bagkaki, A., Tsoutsinos, A., Hatzidaki, E., Tzatzarakis, M., Parthenakis, F., and Germanakis, I. (2021). Mexiletine Treatment for Neonatal Lqt3 Syndrome: Case Report and Literature Review. Front. Pediatr., 9.","DOI":"10.3389\/fped.2021.674041"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"3381","DOI":"10.1161\/01.CIR.92.12.3381","article-title":"Long Qt Syndrome Patients with Mutations of the Scn5a and Herg Genes Have Differential Responses to Na+ Channel Blockade and to Increases in Heart Rate. Implications for Gene-Specific Therapy","volume":"92","author":"Schwartz","year":"1995","journal-title":"Circulation"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1093\/europace\/euw439","article-title":"Long-Term Flecainide Therapy in Type 3 Long Qt Syndrome","volume":"20","author":"Chorin","year":"2018","journal-title":"Europace"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1016\/j.recesp.2012.03.014","article-title":"Flecainide, a Therapeutic Option in a Patient with Long Qt Syndrome Type 3 Caused by the Heterozygous V411m Mutation in the Scn5a Gene","volume":"65","author":"Carrasco","year":"2012","journal-title":"Rev. Esp. Cardiol."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"e007280","DOI":"10.1161\/CIRCEP.118.007280","article-title":"Mexiletine Shortens the Qt Interval in Patients with Potassium Channel-Mediated Type 2 Long Qt Syndrome","volume":"12","author":"Bos","year":"2019","journal-title":"Circ. Arrhythm. Electrophysiol."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1136\/heart.90.1.13","article-title":"Long Qt Syndrome and Life Threatening Arrhythmia in a Newborn: Molecular Diagnosis and Treatment Response","volume":"90","author":"Fenge","year":"2004","journal-title":"Heart"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1161\/CIRCEP.109.882159","article-title":"Clinical Characteristics and Genetic Background of Congenital Long-Qt Syndrome Diagnosed in Fetal, Neonatal, and Infantile Life: A Nationwide Questionnaire Survey in Japan","volume":"3","author":"Horigome","year":"2010","journal-title":"Circ. Arrhythm. Electrophysiol."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1016\/j.jacc.2008.01.033","article-title":"Results of a Multicenter Retrospective Implantable Cardioverter-Defibrillator Registry of Pediatric and Congenital Heart Disease Patients","volume":"51","author":"Berul","year":"2008","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_91","doi-asserted-by":"crossref","unstructured":"Link, M.S., Hill, S.L., Cliff, D.L., Swygman, C.A., Foote, C.B., Homoud, M.K., Wang, P.J., Estes, N.A., and Berul, C.I. (1999). Comparison of Frequency of Complications of Implantable Cardioverter-Defibrillators in Children Versus Adults. Am. J. Cardiol., 83.","DOI":"10.1016\/S0002-9149(98)00834-0"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"e010557","DOI":"10.1161\/CIRCEP.121.010557","article-title":"Implantable Cardioverter Defibrillators in Infants and Toddlers: Indications, Placement, Programming, and Outcomes","volume":"15","author":"Zahedivash","year":"2022","journal-title":"Circ. Arrhythm. Electrophysiol."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"1561","DOI":"10.1016\/j.jacep.2020.06.001","article-title":"Genotype Predicts Outcomes in Fetuses and Neonates with Severe Congenital Long Qt Syndrome","volume":"6","author":"Moore","year":"2020","journal-title":"JACC Clin. Electrophysiol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"1755","DOI":"10.1016\/j.hrthm.2008.07.027","article-title":"Defibrillator Indications and Implantation in Young Children","volume":"5","author":"Berul","year":"2008","journal-title":"Heart Rhythm"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1002\/jcu.22386","article-title":"A Multidisciplinary Approach to Prenatal Treatment of Congenital Long Qt Syndrome","volume":"43","author":"Crimmins","year":"2017","journal-title":"J. Clin. Ultrasound"},{"key":"ref_96","first-page":"1803","article-title":"Adaptable Sensor Arrays for Fetal Magnetocardiographic Measurements Using Optically-Pumped Magnetometers: A Pilot Study","volume":"2020","author":"Eswaran","year":"2020","journal-title":"Annu. Int. Conf. IEEE Eng. Med. Biol. Soc."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1161\/CIRCULATIONAHA.110.960377","article-title":"Transmural Differences in Myocardial Contraction in Long-Qt Syndrome: Mechanical Consequences of Ion Channel Dysfunction","volume":"122","author":"Haugaa","year":"2010","journal-title":"Circulation"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1093\/europace\/euaa107","article-title":"Prolonged Left Ventricular Contraction Duration in Apical Segments as a Marker of Arrhythmic Risk in Patients with Long Qt Syndrome","volume":"22","author":"Borowiec","year":"2020","journal-title":"Europace"},{"key":"ref_99","doi-asserted-by":"crossref","unstructured":"Sonaglioni, A., Bruno, A., Nicolosi, G.L., Bianchi, S., Lombardo, M., and Muti, P. (2024). Echocardiographic Assessment of Biventricular Mechanics of Fetuses and Infants of Gestational Diabetic Mothers: A Systematic Review and Meta-Analysis. Children, 11.","DOI":"10.3390\/children11121451"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1002\/pd.6672","article-title":"Fetal Speckle Tracking Echocardiography Measured Global Longitudinal Strain and Strain Rate in Congenital Heart Disease: A Systematic Review and Meta-Analysis","volume":"44","author":"Havermans","year":"2024","journal-title":"Prenat. Diagn."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1016\/j.echo.2024.10.020","article-title":"Normal Fetal Ventricular Strain Pilot Study","volume":"38","author":"McFarland","year":"2024","journal-title":"J. Am. Soc. Echocardiogr."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"102110","DOI":"10.1016\/j.jaccas.2023.102110","article-title":"Successful Management of Fetal Torsades De Pointes and Long Qt Syndrome by a Cardio-Obstetrical Team","volume":"27","author":"Putra","year":"2023","journal-title":"JACC Case Rep."}],"container-title":["Journal of Cardiovascular Development and Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2308-3425\/12\/4\/156\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:14:08Z","timestamp":1760030048000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2308-3425\/12\/4\/156"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,14]]},"references-count":102,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2025,4]]}},"alternative-id":["jcdd12040156"],"URL":"https:\/\/doi.org\/10.3390\/jcdd12040156","relation":{},"ISSN":["2308-3425"],"issn-type":[{"value":"2308-3425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,14]]}}}