Pabba Krishna, Chakraborty Rebanta K.
University of Texas at Houston
Steward Medical\Good Samaritan Medical
Jervell and Lange Nielsen syndrome (JLNS) is a rare autosomal recessive disorder characterized by bilateral sensorineural hearing loss and a prolonged QTc interval (usually more than 500 msec), which can lead to Torsades de pointes and sudden cardiac death. It is a form of an inherited long QT syndrome (LQTS). The disease was first described in 1957 by Anton Jervell and Fred Lange-Nielsen in a study of 4 children born with congenital deafness that all suffered from syncope. There was a marked prolongation of the QT interval on electrocardiographic studies with no other identifiable cause for the patient’s fainting spells.
杰韦尔和朗格·尼尔森综合征（JLNS）是一种罕见的常染色体隐性疾病，其特征为双侧感音神经性听力损失和QTc间期延长（通常超过500毫秒），这可能导致尖端扭转型室速和心源性猝死。它是遗传性长QT综合征（LQTS）的一种形式。该疾病于1957年由安东·杰韦尔和弗雷德·朗格·尼尔森首次描述，他们对4名先天性耳聋且均患有晕厥的儿童进行了研究。心电图研究显示QT间期明显延长，且患者晕厥发作无其他可识别的原因。
