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(Circulation. 1995;92:3373-3375.)
© 1995 American Heart Association, Inc.

Articles

Long QT Syndrome Patients With Gene Mutations

Michael R. Rosen, MD

From the College of Physicians and Surgeons of Columbia University, New York, NY.

Correspondence to Michael R. Rosen, MD, College of Physicians and Surgeons of Columbia University, Department of Pharmacology, PH 7 West 321, 630 W 168th St, New York, NY 10032.

Key Words: Editorials • genes • mexiletine • long QT syndrome

	Introduction

 
In their article in this issue of Circulation, Schwartz and colleagues¹ deliver not only an important message in the rapidly advancing field of long QT syndrome but an equally important message concerning the marriage of basic science and clinical medicine. Hence, the study affects our understanding of (1) the pathophysiology of this disease process, (2) the planning of appropriate medical care, and (3) the supportive roles of basic and clinical research in bettering the human condition.

The idiopathic long QT syndrome (LQTS) is an uncommon disease first reported formally by Jervell and Lange-Nielsen in 1957.² The family they described was beset with the association of congenital deaf-mutism, long QT interval, and sudden death. Romano et al³ in 1963 and Ward⁴ in 1964 reported families in whom QT prolongation and sudden death occurred with an autosomal-dominant inheritance, contrasted with the autosomal-recessive pattern of the Jervell–Lange-Nielsen syndrome. Although the LQTS is by no means common (fewer than 500 families worldwide had been incorporated into an international registry by 1994⁵ ), its role is magnified by the frequency of occurrence of syncope, life-threatening arrhythmias, and sudden death. Indeed, about 21% of symptomatic patients who are untreated die within a year of their first syncopal episode, and mortality climbs to about 50% in 10 years.⁶ Moreover, it is likely that the number of reported cases is only a fraction of those actually occurring.⁵

The disease threatens afflicted families both physically and psychologically, and its phenotypic heterogeneity has led to some difficulties in deciding . . . [Full Text of this Article]