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Q-T综合征——一项家族性描述。

The Q-T syndrome--a family description.

作者信息

Andersson P, Lundkvist L

出版信息

Acta Med Scand. 1979;206(1-2):73-6. doi: 10.1111/j.0954-6820.1979.tb13472.x.

DOI:10.1111/j.0954-6820.1979.tb13472.x
PMID:484260
Abstract

This paper describes a family of nine siblings of whom five suffer from the surdocardiac syndrome. All five are deaf-mute and have medical histories typical of the syndrome, with frequent syncopal attacks during the childhood, often caused by stress. Two of these five siblings have not suffered more than single attacks since puberty and are still alive. The other three had had continuous frequent attacks into adult years and died in connection with syncopes at 20, 27 and 37 years of age. The diagnosis, pathogenesis, treatment and genetics of the syndrome are discussed.

摘要

本文描述了一个有九个兄弟姐妹的家庭,其中五人患有心面耳聋综合征。这五人都是聋哑人,有该综合征的典型病史,童年时期经常出现晕厥发作,常由压力引发。这五个兄弟姐妹中有两人自青春期以来发作次数不超过一次,仍然健在。另外三人成年后仍频繁发作,分别在20岁、27岁和37岁时因晕厥相关原因死亡。文中讨论了该综合征的诊断、发病机制、治疗和遗传学。

相似文献

1
The Q-T syndrome--a family description.Q-T综合征——一项家族性描述。
Acta Med Scand. 1979;206(1-2):73-6. doi: 10.1111/j.0954-6820.1979.tb13472.x.
2
[Prolonged Q-T interval and syncopal episodes, without deafness: the Romano-Ward syndrome].
G Ital Cardiol. 1972;2(2):218-25.
3
[Syncope attacks with lengthening of the Q-T interval, without deafness. 2 further cases of the Romano-Ward syndrome].
Minerva Pediatr. 1975 Jun 23;27(22):1247-54.
4
[Familial long QT-syncope syndrome. 2 cases of Romano-Ward syndrome].
Arch Mal Coeur Vaiss. 1977 Oct;70(10):1105-14.
5
The surdo-cardiac syndrome.聋哑-心脏综合征
Eur Heart J. 1985 Nov;6 Suppl D:97-102. doi: 10.1093/eurheartj/6.suppl_d.97.
6
[Romano Ward syndrome].
Padiatr Padol. 1980;15(1):67-75.
7
Long Q-T syndrome: a preventable form of sudden death.
J Fam Pract. 1978 Nov;7(5):945-8.
8
[Romano-Ward syndrome. Hereditary prolongation of the QT interval and syncopes].[ Romano-Ward综合征。QT间期遗传性延长与晕厥]
Ann Med Interne (Paris). 1978 Aug-Sep;129(8-9):529-31.
9
Q-T interval syndromes.
Prog Cardiovasc Dis. 1974 May-Jun;16(6):523-30. doi: 10.1016/0033-0620(74)90016-4.
10
The heritable syndrome of prolonged Q-T interval, syncope, and sudden death. Electron microscopic observation.长Q-T间期、晕厥及猝死的遗传性综合征。电子显微镜观察。
Chest. 1976 Aug;70(2):263-6. doi: 10.1378/chest.70.2.263.

引用本文的文献

1
Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.一种常见长 QT 综合征突变的表型、起源和估计患病率:包括瑞典 R518X/KCNQ1 家族在内的临床、谱系和分子遗传学研究。
BMC Cardiovasc Disord. 2014 Feb 19;14:22. doi: 10.1186/1471-2261-14-22.