杰韦尔和朗格-尼尔森综合征的临床特征与分子遗传学

[Clinical aspects and molecular genetics of the Jervell- and Lange-Nielsen Syndrome].

作者信息

Mönnig G, Schulze-Bahr E, Wedekind H, Eckardt L, Kirchhof P, Funke H, Kotthoff S, Vogt J, Assmann G, Breithardt G, Haverkamp W

机构信息

Medizinische Klinik und Poliklinik C-Kardiologie und Angiologie Universitätsklinikum Münster, Institut für Arterioskleroseforschung Westfälische Wilhelms-Universität Münster Albert-Schweitzer-Strasse 33 48129 Münster, Germany.

出版信息

Z Kardiol. 2002 May;91(5):380-8. doi: 10.1007/s00392-002-0789-z.

DOI:10.1007/s00392-002-0789-z

PMID:12132284

Abstract

In contrast to the Romano-Ward (R-W) syndrome, the Jervell and Lange-Nielsen (J-LN) syndrome is an autosomal recessive inherited disease characterized by QT-prolongation in the electrocardiogram (ECG) and recurrent syncopal attacks which are also typical for the R-W syndrome, but also by congenital deafness. Recently, defect alleles in the genes for KCNQ1 and KCNE1 have been identified in patients with the J-LN syndrome. These genes may be causative for the R-W syndrome as well but in J-LN patients, they are only present in the homozygote or compound heterozygote form. In the present paper, we review the clinical and genetic similarities and differences of the J-LN and the R-W syndrome as well as the diagnostic and therapeutic management of these patients and their family members.

摘要

与 Romano-Ward（R-W）综合征不同，Jervell 和 Lange-Nielsen（J-LN）综合征是一种常染色体隐性遗传病，其特征为心电图（ECG）QT 间期延长和反复发作的晕厥，这些也是 R-W 综合征的典型症状，但 J-LN 综合征还伴有先天性耳聋。最近，在 J-LN 综合征患者中已鉴定出 KCNQ1 和 KCNE1 基因的缺陷等位基因。这些基因也可能是 R-W 综合征的病因，但在 J-LN 患者中，它们仅以纯合子或复合杂合子形式存在。在本文中，我们综述了 J-LN 综合征和 R-W 综合征在临床和遗传学上的异同，以及这些患者及其家庭成员的诊断和治疗管理。