Síndrome de Marfan

Tinkle BT, Lacro RV, Burke LW, et al. Health supervision for children and adolescents with Marfan syndrome. Pediatrics. 2023 Apr 1;151(4):e2023061450. Resumo

Isselbacher EM, Preventza O, Hamilton Black JH 3rd, et al. 2022 ACC/AHA guideline for the diagnosis and management of aortic disease: a report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2022 Dec 13;146(24):e334-482.Texto completo  Resumo

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

2. 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. Resumo

3. Tinkle BT, Lacro RV, Burke LW, et al. Health supervision for children and adolescents with Marfan syndrome. Pediatrics. 2023 Apr 1;151(4):e2023061450. Resumo

4. Murdoch JL, Walker BA, McKusick VA. Parental age effects on the occurrence of new mutations for the Marfan syndrome. Ann Hum Genet. 1972 Mar;35(3):331-6. Resumo

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

6. 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).Texto completo  Resumo

7. 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.Texto completo  Resumo

8. Silverman DI, Burton KJ, Gray J, et al. Life expectancy in the Marfan syndrome. Am J Cardiol. 1995 Jan 15;75(2):157-60. Resumo

9. 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. Resumo

10. 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. Resumo

11. 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. Resumo

12. 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. Resumo

13. 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. Resumo

14. 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.Texto completo  Resumo

15. 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. Resumo

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

17. 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. Resumo

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

19. Isselbacher EM, Preventza O, Hamilton Black JH 3rd, et al. 2022 ACC/AHA guideline for the diagnosis and management of aortic disease: a report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. 2022 Dec 13;146(24):e334-482.Texto completo  Resumo

20. 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. Resumo

21. Thapa BB, Singh R, Ram J, et al. Lens coloboma in one eye and ectopia lentis in the other eye of a patient with Marfan syndrome. BMJ Case Rep. 2014 Dec 9;2014;2014:bcr2014207112.Texto completo  Resumo

22. Rubin SE. Nelson LB. Ocular manifestations of autosomal dominant systemic conditions. Duane’s clinical ophthalmology on CD-Rom. Vol. 3. Ch. 58. Philadelphia, Pa: Lippincott Williams & Wilkins, 2006.

23. 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. Resumo

24. Esfandiari H, Ansari S, Mohammad-Rabei H, et al. Management strategies of ocular abnormalities in patients with Marfan syndrome: current perspective. J Ophthalmic Vis Res. 2019 Jan-Mar;14(1):71-7.Texto completo  Resumo

25. Renard M, Francis C, Ghosh R, et al. Clinical validity of genes for Heritable Thoracic Aortic Aneurysm and Dissection. J Am Coll Cardiol. 2018 Aug 7;72(6):605-15.Texto completo  Resumo

26. 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. Resumo

27. 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. Resumo

28. 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. Resumo

29. 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. Resumo

30. 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.Texto completo  Resumo

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

32. Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26.Texto completo  Resumo

33. 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.Texto completo  Resumo

34. The Marfan Foundation. Loeys-Dietz Syndrome: causes. [internet publication].Texto completo

35. 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.Texto completo  Resumo

36. 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.Texto completo  Resumo

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

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

39. 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. Resumo

40. Vahanian A, Beyersdorf F, Praz F, et al. 2021 ESC/EACTS Guidelines for the management of valvular heart disease. Eur Heart J. 2022 Feb 12;43(7):561-632.Texto completo  Resumo

41. Baumgartner H, De Backer J, Babu-Narayan SV, et al. 2020 ESC guidelines for the management of adult congenital heart disease. Eur Heart J. 2021 Feb 11;42(6):563-645.Texto completo  Resumo

42. Mullen M, Jin XY, Child A, et al. Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial. Lancet. 2019 Dec 21;394(10216):2263-70.Texto completo  Resumo

43. Buckler AJ, Kessler DJ, Duyao MP, et al. Regulation of c-myc gene transcription in B lymphocytes: mechanisms of negative and positive control. Curr Top Microbiol Immunol. 1988;141:238-46.Texto completo  Resumo

44. Erbel R, Aboyans V, Boileau C, et al. 2014 ESC guidelines on the diagnosis and treatment of aortic diseases: document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The task force for the diagnosis and treatment of aortic diseases of the European Society of Cardiology (ESC). Eur Heart J. 2014 Nov 1;35(41):2873-926.Texto completo  Resumo

45. 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.

46. 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. Resumo

47. 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. Resumo

48. 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. Resumo

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

50. European Society of Cardiology. 2023 ESC guidelines for the management of infective endocarditis: ESC clinical practice guidelines. 15 Nov 2023 [internet publication].Texto completo

51. Nishimura RA, Otto CM, Bonow RO, et al. 2017 AHA/ACC focused update of the 2014 AHA/ACC guideline for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association task force on clinical practice guidelines. J Am Coll Cardiol. 2017 Jul 11;70(2):252-89.Texto completo  Resumo

52. National Institute for Health and Care Excellence. Prophylaxis against infective endocarditis: antimicrobial prophylaxis against infective endocarditis in adults and children undergoing interventional procedures. July 2016 [internet publication].Texto completo

53. Dayer MJ, Jones S, Prendergast B, et al. Incidence of infective endocarditis in England, 2000-13: a secular trend, interrupted time-series analysis. Lancet. 2015 Mar 28;385(9974):1219-28. Resumo

54. 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. Resumo

55. 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. Resumo

56. Drolsum L, Rand-Hendriksen S, Paus B, et al. Ocular findings in 87 adults with Ghent-1 verified Marfan syndrome. Acta Ophthalmol. 2015 Feb;93(1):46-53. Resumo

57. 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.Texto completo  Resumo

58. Donnelly RT, Pinto NM, Kocolas I, et al. The immediate and long-term impact of pregnancy on aortic growth rate and mortality in women with Marfan syndrome. J Am Coll Cardiol. 2012 Jul 17;60(3):224-9.Texto completo  Resumo

59. Cauldwell M, Steer PJ, Curtis SL, et al. Maternal and fetal outcomes in pregnancies complicated by Marfan syndrome. Heart. 2019 Nov;105(22):1725-31.Texto completo  Resumo

60. Pacini L, Digne F, Boumendil A, et al. Maternal complication of pregnancy in Marfan syndrome. Int J Cardiol. 2009 Aug 14;136(2):156-61. Resumo

61. Regitz-Zagrosek V, Roos-Hesselink JW, Bauersachs J, et al. 2018 ESC guidelines for the management of cardiovascular diseases during pregnancy. Eur Heart J. 2018 Sep 7;39(34):3165-241.Texto completo  Resumo

62. Magee LA, Duley L. Oral beta-blockers for mild to moderate hypertension during pregnancy. Cochrane Database Syst Rev. 2003;(3):CD002863.Texto completo  Resumo

63. Jahangiri M, Clark J. Surgery for type A aortic dissection in pregnant patients with Marfan syndrome. Eur J Cardiothorac Surg. 2006 Feb;29(2):264; author reply 264-5.Texto completo  Resumo

64. Nishimura RA, Otto CM, Bonow RO, et al. 2014 AHA/ACC guideline for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. J Am Coll Cardiol. 2014 Jun 10;63(22):e57-185.Texto completo  Resumo

65. Renard M, Muiño-Mosquera L, Manalo EC, et al. Sex, pregnancy and aortic disease in Marfan syndrome. PLoS One. 2017;12(7):e0181166.Texto completo  Resumo

66. Kim SY, Wolfe DS, Taub CC. Cardiovascular outcomes of pregnancy in Marfan's syndrome patients: a literature review. Congenit Heart Dis. 2018 Mar;13(2):203-9.Texto completo  Resumo

67. Lim JCE, Cauldwell M, Patel RR, et al. Management of Marfan syndrome during pregnancy: a real world experience from a Joint Cardiac Obstetric Service. Int J Cardiol. 2017 Sep 15;243:180-4. Resumo

68. Anum EA, Hill LD, Pandya A, et al. Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity. Placenta. 2009 Mar;30(3):207-15.Texto completo  Resumo

69. Meijboom LJ, Drenthen W, Pieper PG, et al. Obstetric complications in Marfan syndrome. Int J Cardiol. 2006 Jun 7;110(1):53-9. Resumo

70. 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. Resumo

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

72. 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. Resumo

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

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

75. 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. Resumo

76. Rushton PRP, Smith SL, Kandemir G, et al. Spinal lengthening with magnetically controlled growing rods: data from the largest series of explanted devices. Spine (Phila Pa 1976). 2020 Feb 1;45(3):170-6. Resumo

77. 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. Resumo

78. Fraser S, Child A, Hunt I. Pectus updates and special considerations in Marfan syndrome. Pediatr Rep. 2017 Nov 21;9(4):7277.Texto completo  Resumo

79. National Institute for Health and Care Excellence. Personalised external aortic root support (PEARS) using mesh to prevent aortic root expansion and aortic dissection in people with Marfan syndrome. May 2022 [internet publication].Texto completo

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

81. Treasure T, King A, Hidalgo Lemp L, et al. Developing a shared decision support framework for aortic root surgery in Marfan syndrome. Heart. 2018 Mar;104(6):480-6.Texto completo  Resumo

82. Pepper J, Izgi C, Golesworthy TJ, et al. Personalised external aortic root support (PEARS) to stabilise an aortic root aneurysm. Br J Cardiol. 2020;27(3):22.Texto completo  Resumo

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

84. 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. Resumo

85. Sakaguchi M, Kitahara H, Seto T, et al. Surgery for acute type A aortic dissection in pregnant patients with Marfan syndrome. Eur J Cardiothorac Surg. 2005 Aug;28(2):280-3; discussion 283-5.Texto completo  Resumo

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

87. 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. Resumo

88. 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. Resumo

89. 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. Resumo

90. Chen DC, Morrison J. State of the art: open mesh-based inguinal hernia repair. Hernia. 2019 Jun;23(3):485-92. Resumo

91. Maron BJ, Chaitman BR, Ackerman MJ, et al. Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation. 2004 Jun 8;109(22):2807-16.Texto completo  Resumo

92. 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.Texto completo  Resumo