Marfan syndrome

References

Key articles

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. Abstract

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. Abstract

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. Abstract

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.Full text  Abstract

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

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.Full text  Abstract

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. Abstract

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. Abstract

Habib G, Lancellotti P, Antunes MJ, et al. 2015 ESC Guidelines for the management of infective endocarditis: The Task Force for the Management of Infective Endocarditis of the European Society of Cardiology (ESC). Endorsed by: European Association for Cardio-Thoracic Surgery (EACTS), the European Association of Nuclear Medicine (EANM). Eur Heart J. 2015 Nov 21;36(44):3075-128.Full text  Abstract

Wilson W, Taubert KA, Gewitz M, et al. Prevention of infective endocarditis: guidelines from the American Heart Association: a guideline from the American Heart Association Rheumatic Fever, Endocarditis, and Kawasaki Disease Committee, Council on Cardiovascular Disease in the Young, and the Council on Clinical Cardiology, Council on Cardiovascular Surgery and Anesthesia, and the Quality of Care and Outcomes Research Interdisciplinary Working Group. Circulation. 2007 Oct 9;116(15):1736-54.Full text  Abstract

Reference articles

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

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. Abstract

3. 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. Abstract

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

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.Full text  Abstract

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).Full text  Abstract

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

8. 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. Abstract

9. 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. Abstract

10. 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. Abstract

11. 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. Abstract

12. 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. Abstract

13. 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.Full text  Abstract

14. 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. Abstract

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

16. 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. Abstract

17. 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. Abstract

18. Child AH. Diagnosis and management of Marfan Syndrome. 1st ed. London: Springer-Verlag London; 2016:7-8.

19. 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. Abstract

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

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.Full text  Abstract

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. Abstract

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.Full text  Abstract

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.Full text  Abstract

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. Abstract

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. Abstract

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. Abstract

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. Abstract

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.Full text  Abstract

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

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.Full text  Abstract

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.Full text  Abstract

34. The Marfan Foundation. Loeys-Dietz Syndrome: causes. [internet publication].Full text

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.Full text  Abstract

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.Full text  Abstract

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

38. Isselbacher EM, Preventza O, 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 Nov 2 [Epub ahead of print].Full text  Abstract

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

40. 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.Full text  Abstract

41. 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. Abstract

42. 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.Full text  Abstract

43. 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.Full text  Abstract

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

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. Abstract

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. Abstract

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. Abstract

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

50. Habib G, Lancellotti P, Antunes MJ, et al. 2015 ESC Guidelines for the management of infective endocarditis: The Task Force for the Management of Infective Endocarditis of the European Society of Cardiology (ESC). Endorsed by: European Association for Cardio-Thoracic Surgery (EACTS), the European Association of Nuclear Medicine (EANM). Eur Heart J. 2015 Nov 21;36(44):3075-128.Full text  Abstract

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.Full text  Abstract

52. 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.Full text  Abstract

53. 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 Abstract

54. Teixido-Tura G, Forteza A, Rodríguez-Palomares J, et al. Losartan versus atenolol for prevention of aortic dilation in patients with Marfan syndrome. J Am Coll Cardiol. 2018 Oct 2;72(14):1613-8.Full text  Abstract

55. van Andel MM, Indrakusuma R, Jalalzadeh H, et al. Long-term clinical outcomes of losartan in patients with Marfan syndrome: follow-up of the multicentre randomized controlled COMPARE trial. Eur Heart J. 2020 Nov 14;41(43):4181-7.Full text  Abstract

56. 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. Abstract

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

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

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

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

61. 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. Abstract

62. 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.Full text  Abstract

63. Pitcher A, Spata E, Emberson J, et al. Angiotensin receptor blockers and β blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials. Lancet. 2022 Sep 10;400(10355):822-31.Full text  Abstract

64. Gautier M, Detaint D, Fermanian C, et al. Nomograms for aortic root diameters in children using two-dimensional echocardiography. Am J Cardiol. 2010 Mar 15;105(6):888-94. Abstract

65. 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. Abstract

66. 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. Abstract

67. 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.Full text  Abstract

68. 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.Full text  Abstract

69. 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. Abstract

70. 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.Full text  Abstract

71. 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. Abstract

72. 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.Full text  Abstract

73. 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.Full text  Abstract

74. 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.Full text  Abstract

75. 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. Abstract

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

77. 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. Abstract

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

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

80. 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. Abstract

81. 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. Abstract

82. 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. Abstract

83. Fraser S, Child A, Hunt I. Pectus updates and special considerations in Marfan syndrome. Pediatr Rep. 2017 Nov 21;9(4):7277.Full text  Abstract

84. 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].Full text

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

86. 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.Full text  Abstract

87. 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.Full text  Abstract

88. Wilson W, Taubert KA, Gewitz M, et al. Prevention of infective endocarditis: guidelines from the American Heart Association: a guideline from the American Heart Association Rheumatic Fever, Endocarditis, and Kawasaki Disease Committee, Council on Cardiovascular Disease in the Young, and the Council on Clinical Cardiology, Council on Cardiovascular Surgery and Anesthesia, and the Quality of Care and Outcomes Research Interdisciplinary Working Group. Circulation. 2007 Oct 9;116(15):1736-54.Full text  Abstract

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

90. 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. Abstract

91. 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.Full text  Abstract

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

93. 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. Abstract

94. 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. Abstract

95. 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. Abstract

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

97. 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.Full text  Abstract

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