Observation on a case of Jervell and Lange-Neilsen syndrome in an adult.
نویسندگان
چکیده
منابع مشابه
Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome
Objective(s): Jervell and Lange–Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient ...
متن کاملElectrocardiographic changes following exercise in the congenitally deaf school children: relationship with Jervell Lange Neilsen syndrome (the Long QT syndrome).
The present study was conducted to test the effects of exercise stress on the ECG of the congenitally deaf children from school for deaf, in view of the occurrence of the Jervell-Lange Neilsen (Surdo Cardiac) variant of the Long QT Syndrome (LQTS) in them. An ECG Lead II was recorded at rest and after two minutes of static jogging. For comparison, the same protocol was repeated in normal health...
متن کاملAn eighteen month-old infant with Cornelia de Lange syndrome: a case report
Cornelia de Lange syndrome (CdLS) is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error. In classical form of the syndrome there is a recognizable facial appearance at birth although in children with mild disease this may be less obvious at birth but become more noticeable over the first three years of life. In t...
متن کاملClinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report
BACKGROUND Jervell and Lange-Nielsen syndrome (Online Mendelian Inheritance in Man 220400) is a rare autosomal recessive cardioauditory ion channel disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval, ventricular tachyarrhythmias, and episodes of torsade de pointes on an electrocardiogram. C...
متن کاملAn unusual cause of apparent epilepsy: ECG and EEG findings in a case of Jervell Lange-Neilson syndrome.
A case is presented of apparent epilepsy which proved to be due to recurrent ventricular tachyarrhythmias (torsade de pointe). The relationship between the cardiac arrhythmia and changes in the electroencephalograph is recorded and analysed. This is probably an example of the 'Jervell Lange-Neilson' syndrome of cardiac arrhythmias which may produce ictal episodes, prolongation of the QTc interv...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- British heart journal
دوره 34 6 شماره
صفحات -
تاریخ انتشار 1972