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法洛四联症合并霍尔特-奥拉姆综合征

Tetralogy of Fallot with Holt-Oram syndrome.

作者信息

Kumar Vikas, Agrawal Vikas, Jain Dharmendra, Shankar Om

机构信息

Department of Cardiology, Banaras Hindu University, Varanasi, India.

出版信息

Indian Heart J. 2012 Jan-Feb;64(1):95-8. doi: 10.1016/S0019-4832(12)60021-2. Epub 2012 Mar 26.

DOI:10.1016/S0019-4832(12)60021-2
PMID:22572437
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3861285/
Abstract

Holt-Oram syndrome (HOS) is characterised by mild to severe congenital cardiac defects and skeletal abnormalities of the upper limb. This syndrome is also referred to as Hand-Heart syndrome. The most common cardiac disorder is an ostium secundum detected an atrial septal defect (ASD), followed by ventricular septal defect (VSD) and ostium primum ASD. We report a case of HOS with tetralogy of Fallot (TOF). This association is very rare and is hardly reported in the literature.

摘要

Holt-Oram综合征(HOS)的特征是存在轻度至重度先天性心脏缺陷以及上肢骨骼异常。该综合征也被称为手-心综合征。最常见的心脏疾病是继发孔型房间隔缺损(ASD),其次是室间隔缺损(VSD)和原发孔型ASD。我们报告一例合并法洛四联症(TOF)的HOS病例。这种关联非常罕见,文献中鲜有报道。

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Tetralogy of Fallot with Holt-Oram syndrome.法洛四联症合并霍尔特-奥拉姆综合征
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2
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引用本文的文献

1
Atypical carpal tunnel syndrome in a holt oram patient: a case report and literature review.一名患有 Holt-Oram 综合征的非典型腕管综合征患者:病例报告及文献综述
Open Orthop J. 2014 Dec 29;8:462-5. doi: 10.2174/1874325001408010462. eCollection 2014.
2
Diversity of congenital cardiac defects and skeletal deformities associated with the Holt-Oram syndrome.与霍尔特-奥拉姆综合征相关的先天性心脏缺陷和骨骼畸形的多样性。
Int J Surg Case Rep. 2014;5(7):389-92. doi: 10.1016/j.ijscr.2014.04.034. Epub 2014 May 9.

本文引用的文献

1
[The Holt-Oram syndrome. Review of the literature and current orthopedic treatment concepts].
Z Orthop Ihre Grenzgeb. 1997 Jul-Aug;135(4):368-75. doi: 10.1055/s-2008-1039403.
2
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.Holt-Oram综合征由TBX5基因突变引起,TBX5是短尾(T)基因家族的成员之一。
Nat Genet. 1997 Jan;15(1):21-9. doi: 10.1038/ng0197-21.
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Variation in severity of cardiac disease in Holt-Oram syndrome.
Am J Med Genet. 1996 Oct 16;65(2):128-32. doi: 10.1002/(SICI)1096-8628(19961016)65:2<128::AID-AJMG9>3.0.CO;2-O.
4
The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome).霍尔特-奥拉姆综合征(心手综合征)的临床及遗传谱系
N Engl J Med. 1994 Mar 31;330(13):885-91. doi: 10.1056/NEJM199403313301302.
5
Holt-Oram syndrome in China: a collective review of 18 cases.中国的 Holt-Oram 综合征:18 例病例的综合回顾
Am Heart J. 1986 Mar;111(3):572-7. doi: 10.1016/0002-8703(86)90066-9.