Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.

ABSTRACT:

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. Cardiac symptoms arise mostly in early childhood and consist of syncopal episodes during periods of stress, exercise, or fright and are associated with a high risk of sudden cardiac death. Jervell and Lange-Nielsen syndrome is caused by homozygous or compound heterozygous mutations in KCNQ1 on 11p15.5 or KCNE1 on 1q22.1-q22.2.

Case presentation

We report the case of a 10-year-old Morocc

SUBMITTER: Adadi N 

PROVIDER: S-EPMC5376485 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature