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Cardiovascular Research Feb 2021
Topics: Electrocardiography; Humans; Long QT Syndrome
PubMed: 33616670
DOI: 10.1093/cvr/cvab025 -
Circulation. Arrhythmia and... Jul 2021While published guidelines are useful in the care of patients with long-QT syndrome, it can be difficult to decide how to apply the guidelines to individual patients,... (Review)
Review
While published guidelines are useful in the care of patients with long-QT syndrome, it can be difficult to decide how to apply the guidelines to individual patients, particularly those with intermediate risk. We explored the diversity of opinion among 24 clinicians with expertise in long-QT syndrome. Experts from various regions and institutions were presented with 4 challenging clinical scenarios and asked to provide commentary emphasizing why they would make their treatment recommendations. All 24 authors were asked to vote on case-specific questions so as to demonstrate the degree of consensus or divergence of opinion. Of 24 authors, 23 voted and 1 abstained. Details of voting results with commentary are presented. There was consensus on several key points, particularly on the importance of the diagnostic evaluation and of β-blocker use. There was diversity of opinion about the appropriate use of other therapeutic measures in intermediate-risk individuals. Significant gaps in knowledge were identified.
Topics: Adrenergic beta-Antagonists; Consensus; Diagnostic Techniques, Cardiovascular; Disease Management; Humans; Long QT Syndrome
PubMed: 34238011
DOI: 10.1161/CIRCEP.120.009726 -
European Heart Journal Dec 2022
Topics: Humans; Long QT Syndrome; Arrhythmias, Cardiac; Electrocardiography
PubMed: 36254679
DOI: 10.1093/eurheartj/ehac551 -
Current Problems in Cardiology Nov 2008The hereditary Long QT syndrome (LQTS) is a genetic channelopathy with variable penetrance that is associated with increased propensity for polymorphic ventricular... (Review)
Review
The hereditary Long QT syndrome (LQTS) is a genetic channelopathy with variable penetrance that is associated with increased propensity for polymorphic ventricular tachyarrhythmias and sudden cardiac death in young individuals with normal cardiac morphology. The diagnosis of this genetic disorder relies on a constellation of electrocardiographic, clinical, and genetic factors. Accumulating data from recent studies indicate that the clinical course of affected LQTS patients is time-dependent and age-specific, demonstrating important gender differences among age groups. Risk assessment should consider age-gender interactions, prior syncopal history, QT-interval duration, and genetic factors. Beta-blockers constitute the mainstay therapy for LQTS, while left cardiac sympathetic denervation and implantation of a cardioverter defibrillator should be considered in patients who remain symptomatic despite beta-blocker therapy. Current and ongoing studies are also evaluating genotype-specific therapies that may reduce the risk for life-threatening cardiac events in high-risk LQTS patients.
Topics: Age Factors; Death, Sudden, Cardiac; Electrocardiography; Female; Genotype; Heart Arrest; Humans; Ion Channels; Long QT Syndrome; Male; Mutation; Phenotype; Risk Assessment; Risk Factors; Syncope
PubMed: 18835466
DOI: 10.1016/j.cpcardiol.2008.07.002 -
Trends in Cardiovascular Medicine Jan 2024Long QT syndrome (LQTS) is a potentially life-threatening, but highly treatable genetic heart disease. LQTS-directed therapies often consist of beta-blockers (BBs), left... (Review)
Review
Long QT syndrome (LQTS) is a potentially life-threatening, but highly treatable genetic heart disease. LQTS-directed therapies often consist of beta-blockers (BBs), left cardiac sympathetic denervation (LCSD), and/or an implantable cardioverter defibrillator (ICD). However, in clinical practice, many patient-specific and genotype-directed permutations exist. Herein, we aim to review the spectrum of treatment configurations utilized at a single, tertiary center specializing in the care of patients with LQTS to demonstrate optimal LQTS-directed management is not amenable to a "one-size-fits-all" approach but instead benefits from patient- and genotype-tailored strategies.
Topics: Humans; Long QT Syndrome; Heart; Defibrillators, Implantable; Sympathectomy; Adrenergic beta-Antagonists
PubMed: 35772688
DOI: 10.1016/j.tcm.2022.06.006 -
Journal of the American College of... Feb 2023
Topics: Humans; Expert Testimony; Long QT Syndrome; Electrocardiography
PubMed: 36725177
DOI: 10.1016/j.jacc.2022.11.037 -
Physiological Reviews Jan 2017Ion channels represent the molecular entities that give rise to the cardiac action potential, the fundamental cellular electrical event in the heart. The concerted... (Review)
Review
Ion channels represent the molecular entities that give rise to the cardiac action potential, the fundamental cellular electrical event in the heart. The concerted function of these channels leads to normal cyclical excitation and resultant contraction of cardiac muscle. Research into cardiac ion channel regulation and mutations that underlie disease pathogenesis has greatly enhanced our knowledge of the causes and clinical management of cardiac arrhythmia. Here we review the molecular determinants, pathogenesis, and pharmacology of congenital Long QT Syndrome. We examine mechanisms of dysfunction associated with three critical cardiac currents that comprise the majority of congenital Long QT Syndrome cases: 1) I, the slow delayed rectifier current; 2) I, the rapid delayed rectifier current; and 3) I, the voltage-dependent sodium current. Less common subtypes of congenital Long QT Syndrome affect other cardiac ionic currents that contribute to the dynamic nature of cardiac electrophysiology. Through the study of mutations that cause congenital Long QT Syndrome, the scientific community has advanced understanding of ion channel structure-function relationships, physiology, and pharmacological response to clinically employed and experimental pharmacological agents. Our understanding of congenital Long QT Syndrome continues to evolve rapidly and with great benefits: genotype-driven clinical management of the disease has improved patient care as precision medicine becomes even more a reality.
Topics: Animals; Humans; Long QT Syndrome
PubMed: 27807201
DOI: 10.1152/physrev.00008.2016 -
Heart Rhythm May 2023
Topics: Humans; Long QT Syndrome; Phenotype; Electrocardiography
PubMed: 36806575
DOI: 10.1016/j.hrthm.2023.02.013 -
European Journal of Preventive... Sep 2022
Topics: Electrocardiography; Humans; Long QT Syndrome
PubMed: 35708716
DOI: 10.1093/eurjpc/zwac109 -
Trends in Cardiovascular Medicine Oct 2018Collectively, the completion of the Human Genome Project and subsequent development of high-throughput next-generation sequencing methodologies have revolutionized... (Review)
Review
Collectively, the completion of the Human Genome Project and subsequent development of high-throughput next-generation sequencing methodologies have revolutionized genomic research. However, the rapid sequencing and analysis of thousands upon thousands of human exomes and genomes has taught us that most genes, including those known to cause heritable cardiovascular disorders such as long QT syndrome, harbor an unexpected background rate of rare, and presumably innocuous, non-synonymous genetic variation. In this Review, we aim to reappraise the genetic architecture underlying both the acquired and congenital forms of long QT syndrome by examining how the clinical phenotype associated with and background genetic variation in long QT syndrome-susceptibility genes impacts the clinical validity of existing gene-disease associations and the variant classification and reporting strategies that serve as the foundation for diagnostic long QT syndrome genetic testing.
Topics: Animals; Death, Sudden, Cardiac; Genetic Markers; Genetic Predisposition to Disease; Genetic Variation; Humans; Long QT Syndrome; Molecular Diagnostic Techniques; Phenotype; Predictive Value of Tests; Risk Assessment; Risk Factors
PubMed: 29661707
DOI: 10.1016/j.tcm.2018.03.003