Subject(s)
Biomedical Research/history , Cardiology/history , Death, Sudden, Cardiac , Defibrillators, Implantable/history , Electric Countershock/history , Long QT Syndrome/history , Death, Sudden, Cardiac/prevention & control , Electric Countershock/instrumentation , History, 20th Century , History, 21st Century , Humans , Long QT Syndrome/genetics , Long QT Syndrome/physiopathology , Long QT Syndrome/therapyABSTRACT
The Brugada syndrome (BrS) and long-QT syndrome (LQTS) present as congenital or acquired disorders with diagnostic electrocardiograms (ST-segment elevation and prolonged QT interval, respectively) and increased risk for malignant arrhythmias. Our understanding of the 2 disease forms (congenital vs. acquired) differs. A female patient on quinidine for atrial fibrillation who develops ventricular fibrillation is diagnosed with "acquired LQTS" and is discharged with no therapy other than instructions to avoid QT-prolonging medications. In contrast, an asymptomatic male patient who develops a Brugada electrocardiogram on flecainide is diagnosed with "asymptomatic BrS" and could be referred for an electrophysiological evaluation that could result in defibrillator implantation. The typical patient undergoing defibrillator implantation for BrS is asymptomatic but has a Brugada electrocardiogram provoked by a drug. The authors describe how the histories of LQTS and BrS went through the same stages, but in different sequences, leading to different conclusions.
Subject(s)
Brugada Syndrome/history , Long QT Syndrome/history , Brugada Syndrome/diagnosis , Brugada Syndrome/etiology , Female , History, 20th Century , Humans , Long QT Syndrome/diagnosis , Long QT Syndrome/etiology , MaleABSTRACT
The story of the long QT syndrome involved a chance interaction that took place in 1957 when Dr. Moss was shown a unique series of ECGs with a prolonged QT interval in a young deaf boy whose recurrent syncope culminated in sudden death. Who could have predicted that this clinical experience would lead to innovative and effective new therapy for a patient with the long QT syndrome several years later and the subsequent formation of the International Long QT Registry? This Registry has stimulated interactions among and between patients and physicians and has enhanced collaborations involving clinical, genetic, and basic-science investigators. The net result has been a significant improvement in the diagnosis, treatment, and outcome of patients with the long QT syndrome and an overall advancement in the science of medicine - two of the many satisfactions that physicians can experience in the clinical practice of medicine.
Subject(s)
Death, Sudden, Cardiac/prevention & control , Long QT Syndrome/genetics , Long QT Syndrome/therapy , Mutation , Registries , Cooperative Behavior , DNA Mutational Analysis , Death, Sudden, Cardiac/etiology , Electrocardiography , Genetic Markers , Genetic Predisposition to Disease , Heredity , History, 20th Century , History, 21st Century , Humans , Interdisciplinary Communication , International Cooperation , Long QT Syndrome/diagnosis , Long QT Syndrome/history , Long QT Syndrome/mortality , Long QT Syndrome/physiopathology , Pedigree , Phenotype , Predictive Value of Tests , Risk Factors , Treatment OutcomeABSTRACT
The long QT syndrome is caused by a change in cardiac repolarization due to functional ion channel defects. A differentiation is made between a congenital (cLQTS) and an acquired (aLQTS) form of the disease. The disease results in the name-giving prolongation of the QT interval in the electrocardiogram and represents a predisposition for cardiac arrhythmia and sudden cardiac death. This article summarizes the current knowledge on the history, pathophysiology, clinical symptoms and therapy of cLQTS and aLQTS. This knowledge of pathophysiological features of the symptoms allows the underlying anesthesiological approach for individualized perioperative concepts for patients suffering from LQTS to be derived.
Subject(s)
Long QT Syndrome/genetics , Long QT Syndrome/therapy , Arrhythmias, Cardiac/etiology , Arrhythmias, Cardiac/therapy , Death, Sudden, Cardiac/etiology , Death, Sudden, Cardiac/prevention & control , Electrocardiography , History, 20th Century , History, 21st Century , Humans , Long QT Syndrome/complications , Long QT Syndrome/history , Perioperative CareSubject(s)
Bible , Jews , Nose , Punishment/history , Religion and Medicine , Romano-Ward Syndrome/history , Electrocardiography , History, 20th Century , History, Ancient , Humans , Long QT Syndrome/history , MetaphorABSTRACT
Inherited long QT syndrome (LQTS) refers to the primary electrical diseases of the heart. It is characterized by QT prolongation on resting ECG and syncope due to life-threatening ventricular arrhythmias. This review focuses on diagnosis, differential diagnosis, risk stratification of sudden cardiac death, and treatment strategy of patients with most prevalent genetic fOrms of LQTS - LQT1, LQT2 and LQT3, which accounted for about 90% of all genetically confirmed cases. Recent advances in understanding of relationship between clinical, electrocardiographic features (on ECG, body surface mapping, stress test) and genetic variants of LQT presented. Characteristics of syncopal events and ECG features of LQTl, LQT2 and LQT3 in the majority of cases are helpful to make an appropriate choice for therapy, even before positive result of molecular genetic testing. Management has focused on the use of beta blockers as first-line treatment and exclusion of triggers of life-threatening arrhythmia which are specific for each molecular-genetic variant. Implantation of cardioverter defibrillator for secondary prevention of sudden death in the high-risk patients or patients with insufficient effect of antiarrhythmic therapy is required.
Subject(s)
Death, Sudden, Cardiac/prevention & control , Electrocardiography , Genetic Testing/history , Long QT Syndrome , Risk Assessment/methods , Anti-Arrhythmia Agents/therapeutic use , Death, Sudden, Cardiac/etiology , Defibrillators, Implantable , Diagnosis, Differential , Genetic Association Studies/history , Genetic Predisposition to Disease , History, 20th Century , History, 21st Century , Humans , Long QT Syndrome/congenital , Long QT Syndrome/diagnosis , Long QT Syndrome/history , Long QT Syndrome/mortality , Long QT Syndrome/physiopathology , Long QT Syndrome/therapy , Medication Therapy Management , Precision Medicine/trends , Risk Assessment/standards , Risk Reduction Behavior , Secondary Prevention , Severity of Illness Index , Syncope/physiopathology , Ventricular Premature Complexes/physiopathologyABSTRACT
A morte cardíaca súbita é um problema de saúde pública. Embora seja mais comum em pacientes com doença cardíaca estrutural, que pode ser detectada e quantificada com a medida da função ventricular, uma parte dos pacientes em risco tem o coração estruturalmente normal. Tais afecções, usualmente causadas por defeitos genéticos dos canais iônicos do coração, podem expor os afetados a arritmias malígnas, que hoje, têm como opção eficaz de tratamento o implante de desfibrilador. As diretrizes nacionais e internacionais para o manejo de pacientes com arritmias englobam os recentes avanços na detecção e no tratamento desses pacientes. No presente artigo são comentadas algumas dessas situações (síndrome do QT longo congênito, síndrome de Brugada, síndrome do QT curto e taquicardia ventricular catecolaminérgica), com dados sobre o histórico, a ocorrência, a etiologia, as manifestações clínicas e as estratégias atuais para estratificação de risco e tratamento. O inimigo é cruel e às vezes imune aos métodos usuais de identificação. O papel do especialista é estar atento aos detalhes e perceber, na população, quem está marcado, detectar esse indivíduo e trata-lo da melhor maneira possível.
