The Spectrum of Symptoms and QT Intervals in Carriers of the Gene for the Long-QT Syndrome

• Published in: The New England journal of medicine Vol. 327; no. 12; pp. 846 - 852
• Main Authors: Vincent, G. Michael, Timothy, Katherine W, Leppert, Mark, Keating, Mark
• Format: Journal Article
• Language: English
• Published: Boston, MA Massachusetts Medical Society 17.09.1992
• Subjects: Adolescent; Adult; Biological and medical sciences; Cardiac arrhythmia; Cardiac dysrhythmias; Cardiology. Vascular system; Child; Child, Preschool; Chromosome 11; Death, Sudden; Deoxyribonucleic acid; Diagnosis; DNA; EKG; Electrocardiography; Family medical history; Female; Genetic Carrier Screening - methods; Genetic Markers; Genetic screening; Genetics; Heart; Heart rate; Heterozygote; Humans; Infant; Linkage analysis; Long QT syndrome; Long QT Syndrome - genetics; Long QT Syndrome - physiopathology; Male; Medical disorders; Medical research; Medical sciences; Sensitivity and Specificity; Syncope; Syncope - complications; Ventricle; Human; Cardiovascular disease; Exploration; Inheritance; Prolonged QT interval
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJM199209173271204

THE long-QT syndrome 1 2 3 4 5 is an inherited disorder associated with recurrent syncope and sudden death from ventricular arrhythmias. We recently identified genetic markers on the short arm of chromosome 11 (11p) that are closely linked to the locus of the long-QT gene in seven families. 6 7 8 These families have been classified as having the Romano—Ward form of the long-QT syndrome, which is characterized by autosomal dominant inheritance without familial deafness. 1 2 3 4 5 A second form of the disorder, called the Jervell and Lange-Nielsen syndrome, has an autosomal recessive pattern of inheritance and is associated with deafness. 3 4 5 It is not clear, however, whether all families . . .