马方综合征

Beighton P, de Paepe A, Danks D, et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet. 1988 Mar;29(3):581-94.

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Svensson LG, Blackstone EH, Feng J, et al. Are Marfan syndrome and marfanoid patients distinguishable on long-term follow-up? Ann Thorac Surg. 2007 Mar;83(3):1067-74.

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Nemet AY, Assia EI, Apple DJ, et al. Current concepts of ocular manifestations in Marfan syndrome. Surv Ophthalmol. 2006 Nov-Dec;51(6):561-75.

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Summers KM, West JA, Hattam A, et al. Recent developments in the diagnosis of Marfan syndrome and related disorders. Med J Aust. 2012 Nov 5;197(9):494-7.

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Isekame Y, Gati S. Cardiac management. In: Child AH, ed. Diagnosis and management of Marfan syndrome. London: Springer-Verlag; 2016:39-56.

Svensson LG, Crawford ES. Marfan syndrome and connective tissue disorders. In: Svensson LG, Crawford ES, eds. Cardiovascular and vascular disease of the aorta. Philadelphia, PA: WB Saunders; 1997:84-104.

Svensson LG, Khitin L. Aortic cross-sectional area/height ratio timing of aortic surgery in asymptomatic patients with Marfan syndrome. J Thorac Cardiovasc Surg. 2002 Feb;123(2):360-1.

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Svensson LG, Deglurkar I, Ung J, et al. Aortic valve repair and root preservation by remodeling, reimplantation, and tailoring: technical aspects and early outcome. J Card Surg. 2007 Nov-Dec;22(6):473-9.

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Habib G, Lancellotti P, Antunes MJ, et al. 2015 ESC guidelines for the management of infective endocarditis. Eur Heart J. 2015 Nov 21;36(44):3075-3128.

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Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006 Apr 7;312(5770):117-21.

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1.  Pyeritz AE. The Marfan syndrome. Annu Rev Med. 2000;51:481-510.

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2.  Beighton P, de Paepe A, Danks D, et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet. 1988 Mar;29(3):581-94.

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3.  Grimes SJ, Acheson LS, Mathews AL, et al. Clinical consult: Marfan's syndrome. Prim Care. 2004 Sep;31(3):739-42, xii.

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4.  Arslan-Kirchner M, Arbustini E, Boileau C, et al. Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]. Eur J Hum Genet. 2010 Sep;18(9).

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5.  Gray JR, Bridges AB, Faed MJ, et al. Ascertainment and severity of Marfan syndrome in a Scottish population. J Med Genet. 1994 Jan;31(1):51-4.

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6.  Svensson LG, Crawford ES, Coselli JS, et al. Impact of cardiovascular operation on survival in the Marfan patient. Circulation. 1989 Sep;80(3 Pt 1):I233-42.

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7.  Svensson LG, Blackstone EH, Feng J, et al. Are Marfan syndrome and marfanoid patients distinguishable on long-term follow-up? Ann Thorac Surg. 2007 Mar;83(3):1067-74.

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8.  Gillis E, Kempers M, Salemink S, et al. An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases? Hum Mutat. 2014 May;35(5):571-4.

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9.  Kainulainen K, Pulkkinen L, Savolainen A, et al. Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med. 1990 Oct 4;323(14):935-9.

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10.  Collod-Béroud G, Le Bourdelles S, Ades L, et al. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat. 2003 Sep;22(3):199-208.

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11.  Milewicz DM, Pyeritz RE, Crawford ES, et al. Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. J Clin Invest. 1992 Jan;89(1):79-86.

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12.  Pilop C, Aregger F, Gorman RC, et al. Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms. Circulation. 2009 Sep 15;120(11):983-91.

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13.  Ramirez F, Dietz HC. Fibrillin-rich microfibrils: Structural determinants of morphogenetic and homeostatic events. J Cell Physiol. 2007 Nov;213(2):326-30.

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14.  Attias D, Stheneur C, Roy C, et al. Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation. 2009 Dec 22;120(25):2541-9.

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15.  De Paepe A, Devereux RB, Dietz HC, et al. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996 Apr 24;62(4):417-26.

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16.  Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85.

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17.  Alpendurada F, Wong J, Kiotsekoglou A, et al. Evidence for Marfan cardiomyopathy. Eur J Heart Fail. 2010 Oct;12(10):1085-91.

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18.  Nemet AY, Assia EI, Apple DJ, et al. Current concepts of ocular manifestations in Marfan syndrome. Surv Ophthalmol. 2006 Nov-Dec;51(6):561-75.

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19.  Tran-Fadulu V, Pannu H, Kim DH, et al. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. J Med Genet. 2009 Sep;46(9):607-13.

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20.  Milewicz DM, Østergaard JR, Ala-Kokko LM, et al. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A. 2010 Oct;152A(10):2437-43.

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21.  Zhu L, Vranckx R, Khau Van Kien P, et al. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet. 2006 Mar;38(3):343-9.

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22.  van de Laar IM, Oldenburg RA, Pals G, et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet. 2011 Feb;43(2):121-6.

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23.  Boileau C, Guo DC, Hanna N, et al. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet. 2012 Jul 8;44(8):916-21.

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24.  Milewicz DM, Regalado E. Thoracic aortic aneurysms and aortic dissections. January 2012 [internet publication].

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25.  Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006 Aug 24;355(8):788-98.

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26.  Pyeritz RE; American College of Medical Genetics and Genomics. Evaluation of the adolescent or adult with some features of Marfan syndrome. Genet Med. 2012 Jan;14(1):171-7.

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27.  Summers KM, West JA, Hattam A, et al. Recent developments in the diagnosis of Marfan syndrome and related disorders. Med J Aust. 2012 Nov 5;197(9):494-7.

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28.  Child AH, Aragon-Martin JA, Sage K. Genetic testing in Marfan syndrome. Br J Hosp Med (Lond). 2016 Jan;77(1):38-41.

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29.  Isekame Y, Gati S. Cardiac management. In: Child AH, ed. Diagnosis and management of Marfan syndrome. London: Springer-Verlag; 2016:39-56.

30.  Thakur V, Rankin KN, Hartling L, et al. A systematic review of the pharmacological management of aortic root dilation in Marfan syndrome. Cardiol Young. 2013 Aug;23(4):568-81.

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31.  Svensson LG, Crawford ES. Marfan syndrome and connective tissue disorders. In: Svensson LG, Crawford ES, eds. Cardiovascular and vascular disease of the aorta. Philadelphia, PA: WB Saunders; 1997:84-104.

32.  Groenink M, Mulder BJ. How to treat Marfan syndrome: an update. Eur Heart J. 2016 Mar 21;37(12):986-7.

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33.  Svensson LG, Khitin L. Aortic cross-sectional area/height ratio timing of aortic surgery in asymptomatic patients with Marfan syndrome. J Thorac Cardiovasc Surg. 2002 Feb;123(2):360-1.

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34.  Lipscomb KJ, Smith JC, Clarke B, et al. Outcome of pregnancy in women with Marfan's syndrome. Br J Obstet Gynaecol. 1997 Feb;104(2):201-6.

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35.  Svensson LG, Deglurkar I, Ung J, et al. Aortic valve repair and root preservation by remodeling, reimplantation, and tailoring: technical aspects and early outcome. J Card Surg. 2007 Nov-Dec;22(6):473-9.

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36.  Svensson LG. Sizing for modified David's reimplantation procedure. Ann Thorac Surg. 2003 Nov;76(5):1751-3.

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37.  Habib G, Lancellotti P, Antunes MJ, et al. 2015 ESC guidelines for the management of infective endocarditis. Eur Heart J. 2015 Nov 21;36(44):3075-3128.

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38.  Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006 Apr 7;312(5770):117-21.

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39.  Groenink M, den Hartog AW, Franken R, et al. Losartan reduces aortic dilatation rate in adults with Marfan syndrome: a randomized controlled trial. Eur Heart J. 2013 Dec;34(45):3491-500.

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40.  Chiu HH, Wu MH, Wang JK, et al. Losartan added to beta-blockade therapy for aortic root dilation in Marfan syndrome: a randomized, open-label pilot study. Mayo Clin Proc. 2013 Mar;88(3):271-6

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41.  Lacro RV, Dietz HC, Sleeper LA, et al; Pediatric Heart Network Investigators. Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med. 2014 Nov 27;371(22):2061-71.

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42.  Mallat Z, Tedgui A. Atenolol versus losartan in Marfan's syndrome. N Engl J Med. 2015 Mar 5;372(10):980.

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43.  Treasure T, Pepper J, Mohiaddin R. Atenolol versus losartan in Marfan's syndrome. N Engl J Med. 2015 Mar 5;372(10):978-9.

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44.  Ziganshin BA, Mukherjee SK, Elefteriades JA. Atenolol versus losartan in Marfan's syndrome. N Engl J Med. 2015 Mar 5;372(10):977-8.

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45.  Lacro RV, Dietz HC, Mahony L. Atenolol versus losartan in Marfan's syndrome. N Engl J Med. 2015 Mar 5;372(10):980-1.

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46.  Cook JR, Clayton NP, Carta L, et al. Dimorphic effects of transforming growth factor-beta signaling during aortic aneurysm progression in mice suggest a combinatorial therapy for Marfan syndrome. Arterioscler Thromb Vasc Biol. 20155 Apr;35(4):911-7.

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47.  Franken R, den Hartog AW, Radonic T, et al. Beneficial outcome of losartan therapy depends on type of FBN1 mutation in Marfan syndrome. Circ Cardiovasc Genet. 2015 Apr;8(2):383-8.

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48.  Akbarnia BA, Cheung K, Noordeen H, et al. Next generation of growth-sparing techniques: preliminary clinical results of a magnetically controlled growing rod in 14 patients with early-onset scoliosis. Spine. 2013 Apr 15;38(8):665-70.

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49.  Lopez M, Patoir A, Costes F, et al. Preliminary study of efficacy of cup suction in the correction of typical pectus excavatum. J Pediatr Surg. 2016 Jan;51(1):183-7.

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50.  Wagoner MD, Cox TA, Ariyasu RG, et al. Intraocular lens implantation in the absence of capsular support: a report by the American Academy of Ophthalmology. Ophthalmology. 2003 Apr;110(4):840-59.

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51.  Sharma T, Gopal L, Shanmugam MP, et al. Retinal detachment in Marfan syndrome: clinical characteristics and surgical outcome. Retina. 2002 Aug;22(4):423-8.

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52.  Lee SY, Ang CL. Results of retinal detachment surgery in Marfan syndrome in Asians. Retina. 2003 Feb;23(1):24-9.

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53.  Siganos DS, Siganos CS, Popescu CN, et al. Clear lens extraction and intraocular lens implantation in Marfan's syndrome. J Cataract Refract Surg. 2000 May;26(5):781-4.

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54.  Hubbard AD, Charteris DG, Cooling RJ. Vitreolensectomy in Marfan's syndrome. Eye. 1998;12 ( Pt 3a):412-6.

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55.  Vadalà P, Capozzi P, Fortunato M. Intraocular lens implantation in Marfan's syndrome. J Pediatr Ophthalmol Strabismus. 2000 Jul-Aug;37(4):206-8.

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56.  Sugrue PA, O'Shaughnessy BA, Blanke KM, et al. Rapidly progressive Scheuermann's disease in an adolescent after pectus bar placement treated with posterior vertebral-column resection: case report and review of the literature. Spine. 2013 Feb 15;38(4):E259-62.

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57.  Nuss D, Kelly RE Jr, Croitoru DP et al. A 10-year review of a minimally invasive technique for the correction of pectus excavatum. J Pediatr Surg. 1998 Apr;33(4):545-52.

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58.  National Institute for Health and Care Excellence. External aortic root support in Marfan syndrome. May 2011 [internet publication].

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59.  Treasure T, Takkenberg JJ, Pepper J. Personalised external aortic root support. Heart. 2014 Jul;100(13):1065-6.

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60.  Pyeritz RE. Marfan syndrome: 30 years of research equals 30 years of additional life expectancy. Heart. 2009 Mar;95(3):173-5.

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61.  Yates MT, Soppa G, Smelt J, et al. Perioperative management and outcomes of aortic surgery during pregnancy. J Thorac Cardiovasc Surg. 2015 Feb;149(2):607-10.

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62.  Svensson LG, Kim KH, Blackstone EH, et al. Elephant trunk procedure: newer indications and uses. Ann Thorac Surg. 2004 Jul;78(1):109-16.

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63.  Bhudia SK, Troughton R, Lam BK, et al. Mitral valve surgery in the adult Marfan syndrome patient. Ann Thorac Surg. 2006 Mar;81(3):843-8.

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64.  Hall JR, Pyeritz RE, Dudgeon DL, et al. Pneumothorax in the Marfan syndrome: prevalence and therapy. Ann Thorac Surg. 1984 Jun;37(6):500-4.

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65.  Suzuki T, Akiba T, Miyake R, et al. Familial spontaneous pneumothorax in two adult siblings with Marfan syndrome. Ann Thorac Cardiovasc Surg. 2010 Oct;16(5):362-4.

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66.  Thornhill AR, Handyside AH, Ottolini C, et al. Karyomapping - a comprehensive means of simultaneous monogenic and cytogenetic PGD: comparison with standard approaches in real time for Marfan syndrome. J Assist Reprod Genet. 2015 Mar;32(3):347-56.

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