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以完全性心脏传导阻滞为表现的塞克尔综合征。

Seckel syndrome presenting with complete heart block.

作者信息

Abohelwa Mostafa, Elmassry Mohamed, Iskandir Marina, Rogers Brandon, Swaminath Deephak

机构信息

Department of Internal Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas.

Department of Cardiovascular Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas.

出版信息

Proc (Bayl Univ Med Cent). 2021 Jan 28;34(3):405-406. doi: 10.1080/08998280.2020.1871265.

Abstract

Seckel syndrome is a rare autosomal recessive disorder characterized by facial dysmorphic features known as bird-headed dwarfism. Only about 100 cases have been reported. Cardiac anomalies have been described as a potential association with Seckel syndrome. We report a 21-year-old woman with Seckel syndrome and epilepsy who presented with status epilepticus. She was hypotensive and bradycardic. Her electrocardiogram showed complete heart block. She was placed on transcutaneous pacer with no response. A transvenous pacemaker was placed before inserting a suitable permanent pacemaker for her size. This is the third case of complete heart block associated with Seckel syndrome and raises concern about the potential association.

摘要

塞克尔综合征是一种罕见的常染色体隐性疾病,其特征为面部畸形,即鸟头样侏儒症。仅报告了约100例病例。心脏异常被描述为与塞克尔综合征可能存在关联。我们报告了一名患有塞克尔综合征和癫痫的21岁女性,她出现了癫痫持续状态。她血压低且心动过缓。她的心电图显示完全性心脏传导阻滞。给她使用了经皮起搏器,但无反应。在为她植入适合其体型的合适永久性起搏器之前,先放置了经静脉起搏器。这是第三例与塞克尔综合征相关的完全性心脏传导阻滞病例,引发了对这种潜在关联的关注。

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本文引用的文献

1
Ataxia-Telangiectasia Mutated Kinase: Role in Myocardial Remodeling.
J Rare Dis Res Treat. 2017;2(1):32-37. Epub 2016 Dec 16.
2
Cochlear Implantation in Extraordinary Cases.
Balkan Med J. 2015 Apr;32(2):208-13. doi: 10.5152/balkanmedj.2015.15937. Epub 2015 Apr 1.
3
Seckel syndrome with severe sinus bradycardia.
Indian J Pediatr. 2015 Mar;82(3):292-3. doi: 10.1007/s12098-014-1568-3. Epub 2014 Sep 4.
5
Seckel syndrome: a report of a case.
J Indian Soc Pedod Prev Dent. 2012 Jul-Sep;30(3):258-61. doi: 10.4103/0970-4388.105021.
7
Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence?
Childs Nerv Syst. 2010 Jul;26(7):983-6. doi: 10.1007/s00381-010-1142-x.
8
Anesthetic management of a patient with Seckel syndrome and implanted pacemaker.
Paediatr Anaesth. 2008 Jul;18(7):676-7. doi: 10.1111/j.1460-9592.2008.02517.x.
9
Seckel syndrome associated with atrioventricular canal defect: a case report.
Clin Dysmorphol. 2004 Jan;13(1):53-5. doi: 10.1097/00019605-200401000-00017.

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