The Long-QT Syndrome — Bedside to Bench to Bedside

• Published in: The New England journal of medicine Vol. 348; no. 19; pp. 1837 - 1838
• Main Author: Vincent, G. Michael
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 08.05.2003
• Subjects: Adolescent; Adult; Biological and medical sciences; Cardiac arrhythmia; Cardiac dysrhythmias; Cardiology. Vascular system; Death, Sudden, Cardiac - etiology; Electrocardiography; Female; Genotype & phenotype; Heart; Heterozygote; Humans; Long QT Syndrome - complications; Long QT Syndrome - diagnosis; Long QT Syndrome - genetics; Male; Medical sciences; Mutation; Risk Assessment - methods; Human; Cardiocirculatory arrest; Arrhythmia; Cardiogenic syncope; Sudden death; Prolonged QT interval; Sex; Cardiovascular disease; Genotype; Conduction disorder; Genetic determinism; Heart block; Heart disease
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJMp030039

Thomas Carlyle's statement “Our main business is not to see what lies dimly at a distance, but to do what lies clearly at hand” was an integral part of William Osler's philosophy of life, which he discussed in his 1913 address “A Way of Life.” In genetic disorders of the heart, such as inherited long-QT syndrome or hypertrophic cardiomyopathy, what lies clearly at hand has been clouded by the reduced penetrance and the variable expression of the phenotype. The more obvious and severe cases of these disorders were, of course, the first identified and provided the basis for subsequent diagnoses . . .