Congenital long-QT syndrome: A case report illustrating diagnostic pitfalls

This article reviews the clinical course of a id-year-old child with a life long history of seizures and congenital deafness who presented after an epi sode of sudden cardiac arrest secondary to long-QT syndrome-induced torsade de pointes. Jervell-Lange-Nielsen syndrome is a rare cardioauditory syndro me in which affected subjects are susceptible to recurrent syncope and sudd en death from ventricular dysrhythmias, usually before the second decade of life. Careful evaluation of suspected subjects is important because of the variability of the QTc interval. Recent research has identified specific g ene sequences that encode ion channels responsible for both prolonged QTc i nterval and deafness. Treatment of symptomatic cardiac disease with P-block ers in combination with pacemakers and automated internal cardioverter defi brillators can markedly improve quality of life and suppress ventricular dy srhythmias even in the most severely affected subjects. The recent identifi cation of gene sequences identifying some congenital long-QT syndromes may improve screening methods for affected patients and lead to potential thera peutic intervention. (C) 1999 Elsevier Science Inc.