Risk Stratification in the Long-QT Syndrome

• Published in: The New England journal of medicine Vol. 348; no. 19; pp. 1866 - 1874
• Main Authors: Priori, Silvia G, Schwartz, Peter J, Napolitano, Carlo, Bloise, Raffaella, Ronchetti, Elena, Grillo, Massimiliano, Vicentini, Alessandro, Spazzolini, Carla, Nastoli, Janni, Bottelli, Georgia, Folli, Roberta, Cappelletti, Donata
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 08-05-2003
• Subjects: Adult; Age of Onset; Biological and medical sciences; Cardiac dysrhythmias; Cardiology. Vascular system; Cardiovascular disease; Disease-Free Survival; Electrocardiography; Female; Genes; Genotype; Heart; Heart Arrest - genetics; Humans; Long QT Syndrome - genetics; Male; Medical sciences; Multivariate Analysis; Mutation; Phenotype; Potassium Channels - genetics; Risk Assessment - methods; Sodium Channels - genetics; Human; Cardiocirculatory arrest; Arrhythmia; Cardiogenic syncope; Sudden death; Prolonged QT interval; Sex; Cardiovascular disease; Risk; Conduction disorder; Genetic determinism; Heart block; Heart disease; Stratification
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJMoa022147

The most common causes of the inherited long-QT syndrome are mutations in either of two potassium-channel genes (at locus LQT1 or LQT2) or a sodium-channel gene (at locus LQT3). In this large study, the risk of syncope, cardiac arrest, or sudden death was influenced by the genotype of the patient, the duration of the QT interval (corrected for heart rate), and the patient's sex.
Risk influenced by genotype and duration of the QT.
The Romano–Ward variant of the long-QT syndrome is a genetically transmitted disorder characterized by prolonged ventricular repolarization that predisposes carriers to life-threatening arrhythmias.
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Almost 40 years after its initial description,
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,
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the natural history of the syndrome remains incompletely characterized and approaches to risk stratification are not well defined. These gaps in knowledge are largely due to the fact that the long-QT syndrome is uncommon, cardiac events may be separated by long periods without symptoms, and the initial manifestation may occur late in life. Five genes have been linked to the long-QT syndrome,
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,
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and studies of the genotype and . . .