Loeys-Dietz综合征1例

陈奇童; 宋来春; 陶凉

doi:10.13201/j.issn.1001-1439.2021.10.019

Loeys-Dietz综合征1例

- 武汉科技大学附属武汉亚洲心脏病医院心外科
基金项目:
武汉市科技计划项目(No:2020020601012317)

详细信息

通讯作者: 陶凉,E-mail:taoliangmd@sina.com

中图分类号: R654.3

收稿日期: 2020-12-07

修回日期: 2021-03-23

A case report of Loeys-Dietz syndrome

- Department of Cardiac Surgery, Wuhan Asia Heart Hospital Affiliated with the Wuhan University of Science and Technology, Wuhan, 430022, China

More Information

Corresponding author: TAO Liang, E-mail: taoliangmd@sina.com

Received Date: 07 December 2020

Revised Date: 23 March 2021

摘要

- Loeys-Dietz综合征 /
- 主动脉夹层 /
- 马凡综合征
Abstract: Loeys-Dietz syndrome(LDS) is an autosomal dominant genetic aortic disease characterized by the triad of tortuous arteries and aortic aneurysms, hypertelorism, and a bifid uvula or cleft palate, namely the vascular manifestations. A 7-year-old boy was transferred to the hospital with acute aortic dissection and performed in David's procedure. The gene detection showed the heterozygous variation of TGFBR2(OMIM:610168). Combined with other information, we made the diagnosis of LDS. After the operation, the patient's prognosis was improved.
- Loeys-Dietz syndrome /
- aortic dissection /
- Marfan syndrome

HTML全文

参考文献(22)

[1]	遗传性主动脉疾病基因检测的应用[J].中国循环杂志,2016,31(3):304-306.
[2]	Loeys BL,Chen J,Neptune ER,et al.A syndrome of altered cardiovascular,craniofacial,neurocognitive and skeletal development caused by mutations in TGFBR1or TGFBR2[J].Nat Genet,2005,37(3):275-281.
[3]	Kalra VB,Gilbert JW,Malhotra A.Loeys-Dietz syndrome:cardiovascular,neuroradiological and musculoskeletal imaging findings[J].Pediatr Radiol,2011,41(12):1495-1504.
[4]	李军,赖颢,王春生.Loeys-Dietz综合征与主动脉疾病[J].中华胸心血管外科杂志,2013,29(12):730-733.
[5]	Loeys BL,Schwarze U,Holm T,et al.Aneurysm syndromes caused by mutations in the TGF-beta receptor[J].N Engl J Med,2006,355(8):788-798.
[6]	Lindsay ME,Schepers D,Bolar NA,et al.Loss-offunction mutations in TGFB2cause a syndromic presentation of thoracic aortic aneurysm[J].Nat Genet,2012,44(8):922-927.
[7]	Maleszewski JJ,Miller DV,Lu J,et al.Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome(LDS)[J].Am J Surg Pathol,2009,33(2):194-201.
[8]	Choo JT,Tan TH,Lai AH,et al.Loeys-Dietz syndrome:a Marfan-like syndrome associated with aggressive vasculopathy[J].Singapore Med J,2009,50(10):e353-357.
[9]	Zhu C,Tong M,Chi X.Loeys-Dietz syndrome associated with a heterozygous mutation in TGFBR2in a female infant:A case report[J].Exp Ther Med,2021,21(1):12.
[10]	Comentale G,D'Andrea C,Pilato E,et al.Type A Aortic dissection in 11-month-old infant with Loeys-Dietz Syndrome[J].Ann Thorac Surg,2021.
[11]	Viassolo V,Lituania M,Marasini M,et al.Fetal aortic root dilation:aprenatal feature of the Loeys-Dietz syndrome[J].Prenat Diagn,2006,26(11):1081-1083.
[12]	Johnson PT,Chen JK,Loeys BL,et al.Loeys-Dietz syndrome:MDCT angiography findings[J].AJR Am JRoentgenol,2007,189(1):W29-35.
[13]	Hiratzka LF,Bakris GL,Beckman JA,et al.2010AC-CF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease[J].J Am Coll Cardiol,2010,55(14):e27-e129.
[14]	MacCarrick G,Black JH 3rd,Bowdin S,et al.LoeysDietz syndrome:aprimer for diagnosis and management[J].Genet Med,2014,16(8):576-587.
[15]	Möberg K,De Nobele S,Devos D,et al.The Ghent Marfan Trial--a randomized,double-blind placebo controlled trial with losartan in Marfan patients treated withβ-blockers[J].Int J Cardiol,2012,157(3):354-358.
[16]	Aftab M,Cikach FS,Zhu Y,et al.Loeys-Dietz syndrome:Intermediate-term outcomes of medically and surgically managed patients[J].J Thorac Cardiovasc Surg,2019,157(2):439-450.
[17]	David TE.Aortic valve sparing in different aortic valve and aortic root conditions[J].J Am Coll Cardiol,2016,68(6):654-664.
[18]	田苗,张勇,丁钰,等.手术治疗3岁Loeys-Dietz综合征1例[J].中华胸心血管外科杂志,2020,36(4):232-236.
[19]	Inoue Y,Minatoya K,Oda T,et al.Total aortic replacement for a 9-year-old boy with Loeys-Dietz syndrome[J].Ann Thorac Surg,2016,101(3):1185-1188.
[20]	Patel ND,Crawford T,Magruder JT,et al.Cardiovascular operations for Loeys-Dietz syndrome:Intermediate-term results[J].J Thorac Cardiovasc Surg,2017,153(2):406-412.
[21]	Jondeau G,Ropers J,Regalado E,et al.International registry of patients carrying TGFBR1 or TGFBR2mutations:results of the MAC(montalcino aortic consortium)[J].Circ Cardiovasc Genet,2016,9(6):548-558.
[22]	Augoustides JG,Plappert T,Bavaria JE.Aortic decision-making in the Loeys-Dietz syndrome:aortic root aneurysm and a normal-caliber ascending aorta and aortic arch[J].J Thorac Cardiovasc Surg,2009,138(2):502-503.