预防一场灾难：提高对洛伊斯-迪茨综合征的认识。
Preventing a Catastrophe: Increasing Awareness of Loeys-Dietz Syndrome.
作者信息
Kane Bradley S, Shamsa Kamran
出版信息
Tex Heart Inst J. 2019 Feb 1;46(1):41-43. doi: 10.14503/THIJ-17-6387. eCollection 2019 Feb.
Abstract
Loeys-Dietz syndrome is a genetic disorder that predisposes patients to aortic aneurysms. If left untreated, the natural history of the associated aortopathy often culminates in fatal aortic dissection. We describe the case of a 21-year-old man who was diagnosed with Loeys-Dietz syndrome after 2 family members died of aortic dissection. This case highlights the importance of increased physician awareness of this syndrome, which can play a crucial role in preventing premature sudden cardiac death caused by aortic catastrophe.
摘要
洛伊迪茨综合征是一种遗传性疾病，使患者易患主动脉瘤。如果不进行治疗，相关主动脉病变的自然病程通常会以致命的主动脉夹层告终。我们描述了一名21岁男性的病例，在两名家庭成员死于主动脉夹层后，他被诊断出患有洛伊迪茨综合征。该病例凸显了提高医生对这种综合征认识的重要性，这对于预防由主动脉灾难导致的过早心源性猝死可能起到关键作用。
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Heart Lung Circ. 2017 Jun;26(6):536-544. doi: 10.1016/j.hlc.2016.10.023. Epub 2016 Dec 24.
2
Cardiovascular operations for Loeys-Dietz syndrome: Intermediate-term results.洛伊茨-迪茨综合征的心血管手术：中期结果。
J Thorac Cardiovasc Surg. 2017 Feb;153(2):406-412. doi: 10.1016/j.jtcvs.2016.10.088. Epub 2016 Nov 16.
3
Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz Syndrome.马凡综合征或洛伊斯-迪茨综合征患儿的主动脉弹性降低。
Circ J. 2016 Oct 25;80(11):2369-2375. doi: 10.1253/circj.CJ-16-0739. Epub 2016 Oct 13.
4
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
5
Loeys-Dietz syndrome: a primer for diagnosis and management.洛伊迪茨综合征：诊断与管理入门
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6
Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management.主动脉病：病因、遗传学、鉴别诊断、预后和管理。
Am J Med. 2013 Aug;126(8):670-8. doi: 10.1016/j.amjmed.2013.01.029. Epub 2013 Jun 22.
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8
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