References
Key articles
Tinkle BT, Lacro RV, Burke LW, et al. Health supervision for children and adolescents with Marfan syndrome. Pediatrics. 2023 Apr 1;151(4):e2023061450. Abstract
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 Dec 13;146(24):e334-482.Full text Abstract
Reference articles
1. Pyeritz AE. The Marfan syndrome. Annu Rev Med. 2000;51:481-510. Abstract
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. Abstract
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. Abstract
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. Abstract
5. Grimes SJ, Acheson LS, Mathews AL, et al. Clinical consult: Marfan's syndrome. Prim Care. 2004 Sep;31(3):739-42, xii. Abstract
6. 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
7. 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
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. Abstract
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. Abstract
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. Abstract
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. Abstract
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. Abstract
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. Abstract
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.Full text Abstract
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. Abstract
16. Ramirez F, Dietz HC. Fibrillin-rich microfibrils: Structural determinants of morphogenetic and homeostatic events. J Cell Physiol. 2007 Nov;213(2):326-30. Abstract
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. Abstract
18. Alpendurada F, Wong J, Kiotsekoglou A, et al. Evidence for Marfan cardiomyopathy. Eur J Heart Fail. 2010 Oct;12(10):1085-91. Abstract
19. 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 Dec 13;146(24):e334-482.Full text Abstract
20. American College of Medical Genetics and Genomics. Five things physicians and patients should question. Choosing Wisely, an initiative of the ABIM Foundation. 2021 [internet publication].Full text
21. 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
22. 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
23. 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.
24. 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
25. 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
26. 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
27. 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
28. 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
29. 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
30. 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
31. 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
32. Milewicz DM, Regalado E. Thoracic aortic aneurysms and aortic dissections. January 2012 [internet publication].Full text
33. 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
34. 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
35. The Marfan Foundation. Loeys-Dietz Syndrome: causes. [internet publication].Full text
36. 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
37. 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
38. Child AH, Aragon-Martin JA, Sage K. Genetic testing in Marfan syndrome. Br J Hosp Med (Lond). 2016 Jan;77(1):38-41. 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. 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
41. 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
42. 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.Full text Abstract
43. Bennett M, Chang CL, Tatley M, et al. The safety of cardioselective β(1)-blockers in asthma: literature review and search of global pharmacovigilance safety reports. ERJ Open Res. 2021 Mar 1;7(1):00801-2020.Full text Abstract
44. 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
45. 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.Full text Abstract
46. 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
47. 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.
48. 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
49. 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
50. 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
51. Svensson LG. Sizing for modified David's reimplantation procedure. Ann Thorac Surg. 2003 Nov;76(5):1751-3. Abstract
52. European Society of Cardiology. 2023 ESC guidelines for the management of infective endocarditis: ESC clinical practice guidelines. 15 Nov 2023 [internet publication].Full text
53. 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
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. Abstract
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. Abstract
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. Abstract
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.Full text Abstract
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.Full text Abstract
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.Full text Abstract
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. Abstract
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.Full text Abstract
62. Magee LA, Duley L. Oral beta-blockers for mild to moderate hypertension during pregnancy. Cochrane Database Syst Rev. 2003;(3):CD002863.Full text Abstract
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.Full text Abstract
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.Full text Abstract
65. Renard M, Muiño-Mosquera L, Manalo EC, et al. Sex, pregnancy and aortic disease in Marfan syndrome. PLoS One. 2017;12(7):e0181166.Full text Abstract
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.Full text Abstract
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. Abstract
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.Full text Abstract
69. Meijboom LJ, Drenthen W, Pieper PG, et al. Obstetric complications in Marfan syndrome. Int J Cardiol. 2006 Jun 7;110(1):53-9. Abstract
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. Abstract
71. Lee SY, Ang CL. Results of retinal detachment surgery in Marfan syndrome in Asians. Retina. 2003 Feb;23(1):24-9. Abstract
72. Hubbard AD, Charteris DG, Cooling RJ. Vitreolensectomy in Marfan's syndrome. Eye. 1998;12 ( Pt 3a):412-6. Abstract
73. 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
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. Abstract
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. Abstract
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. Abstract
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. Abstract
78. 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
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].Full text
80. Treasure T, Takkenberg JJ, Pepper J. Personalised external aortic root support. Heart. 2014 Jul;100(13):1065-6. Abstract
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.Full text Abstract
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.Full text Abstract
83. 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
84. Pyeritz RE. Marfan syndrome: 30 years of research equals 30 years of additional life expectancy. Heart. 2009 Mar;95(3):173-5. Abstract
85. 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
86. 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
87. 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
88. 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
89. 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
90. 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
91. Chen DC, Morrison J. State of the art: open mesh-based inguinal hernia repair. Hernia. 2019 Jun;23(3):485-92. Abstract
Use of this content is subject to our disclaimer