Abstract

Background
Long QT syndrome (LQTS) is a cardiac disorder characterized by prolonged QT intervals on electrocardiograms (ECG), ventricular arrhythmias, and sudden death. Clinically, two inherited forms of LQTS have been defined: autosomal dominant LQTS or Romano-Ward syndrome (RWS) not associated with deafness and autosomal recessive LQTS or Jervell and Lange-Nielsen syndrome (JLNS) associated with deafness.
Methods
A Chinese family with both RWS and JLNS was identified. Family members were diagnosed based on the presence of a prolonged QT interval as seen on a 12-lead ECG and a medical history of syncope, palpitation, and deafness. Mutational studies in the KCNQ1 potassium channel gene were performed using direct DNA sequence analysis and restriction length polymorphism analysis …

Date

2008

Authors

Su Zhang, Ke Yin, Xiang Ren, Pengyun Wang, Shirong Zhang, Lingling Cheng, Junguo Yang, Jing Yu Liu, Mugen Liu, Qing Kenneth Wang

Journal

BMC Medical Genetics

Volume

9

Pages

1-7

Publisher

BioMed Central