Marfan Syndrome (MFS) Questions & Answers

1. Ammash NM, Sundt TM, Connolly HM. Marfan syndrome-diagnosis and management. Curr Probl Cardiol. 2008 Jan. 33 (1):7-39. [QxMD MEDLINE Link].

2. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991 Jul 25. 352 (6333):337-9. [QxMD MEDLINE Link].

3. Herring JA. Orthopaedic-related syndromes: Marfan syndrome. Herring JA, ed. Tachdjian's Pediatric Orthopaedics. 5th ed. Philadelphia: Saunders; 2014. e473-81.

4. McKUSICK VA. The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue. Circulation. 1955 Mar. 11 (3):321-42. [QxMD MEDLINE Link]. [Full Text].

5. Judge DP, Dietz HC. Therapy of Marfan syndrome. Annu Rev Med. 2008 Feb 18. 59:43-59. [QxMD MEDLINE Link].

6. Gould RA, Sinha R, Aziz H, Rouf R, Dietz HC 3rd, Judge DP, et al. Multi-scale biomechanical remodeling in aging and genetic mutant murine mitral valve leaflets: insights into Marfan syndrome. PLoS One. 2012. 7 (9):e44639. [QxMD MEDLINE Link]. [Full Text].

7. Matt P, Habashi J, Carrel T, Cameron DE, Van Eyk JE, Dietz HC. Recent advances in understanding Marfan syndrome: should we now treat surgical patients with losartan?. J Thorac Cardiovasc Surg. 2008 Feb. 135 (2):389-94. [QxMD MEDLINE Link].

8. Demetracopoulos CA, Sponseller PD. Spinal deformities in Marfan syndrome. Orthop Clin North Am. 2007 Oct. 38 (4):563-72, vii. [QxMD MEDLINE Link].

9. Murdoch JL, Walker BA, Halpern BL, Kuzma JW, McKusick VA. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med. 1972 Apr 13. 286 (15):804-8. [QxMD MEDLINE Link].

10. Sponseller PD, Hobbs W, Riley LH 3rd, Pyeritz RE. The thoracolumbar spine in Marfan syndrome. J Bone Joint Surg Am. 1995 Jun. 77 (6):867-76. [QxMD MEDLINE Link]. [Full Text].

11. Robins PR, Moe JH, Winter RB. Scoliosis in Marfan's syndrome. Its characteristics and results of treatment in thirty-five patients. J Bone Joint Surg Am. 1975 Apr. 57 (3):358-68. [QxMD MEDLINE Link]. [Full Text].

12. Mommertz G, Sigala F, Langer S, Koeppel TA, Mess WH, Schurink GW, et al. Thoracoabdominal aortic aneurysm repair in patients with marfan syndrome. Eur J Vasc Endovasc Surg. 2008 Feb. 35 (2):181-6. [QxMD MEDLINE Link].

13. Maumenee IH. The eye in the Marfan syndrome. Trans Am Ophthalmol Soc. 1981. 79:684-733. [QxMD MEDLINE Link]. [Full Text].

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15. Cañadas V, Vilacosta I, Bruna I, Fuster V. Marfan syndrome. Part 2: treatment and management of patients. Nat Rev Cardiol. 2010 May. 7 (5):266-76. [QxMD MEDLINE Link].

16. Iams HD. Diagnosis and management of Marfan syndrome. Curr Sports Med Rep. 2010 Mar-Apr. 9 (2):93-8. [QxMD MEDLINE Link].

17. Shores J, Berger KR, Murphy EA, Pyeritz RE. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. N Engl J Med. 1994 May 12. 330 (19):1335-41. [QxMD MEDLINE Link]. [Full Text].

18. Cañadas V, Vilacosta I, Bruna I, Fuster V. Marfan syndrome. Part 1: pathophysiology and diagnosis. Nat Rev Cardiol. 2010 May. 7 (5):256-65. [QxMD MEDLINE Link].

19. Sakai LY, Keene DR, Engvall E. Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. J Cell Biol. 1986 Dec. 103 (6 Pt 1):2499-509. [QxMD MEDLINE Link]. [Full Text].

20. Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul. 47 (7):476-85. [QxMD MEDLINE Link].

21. Marfan syndrome. National Heart, Lung, and Blood Institute. Available at https://www.nhlbi.nih.gov/health-topics/marfan-syndrome. November 12, 2019; Accessed: June 18, 2020.

22. 2010 revised Ghent nosology. The Marfan Foundation. Available at http://www.marfan.org/dx/revised-ghent-nosology. 2014; Accessed: June 18, 2020.

23. Faivre L, Collod-Beroud G, Adès L, Arbustini E, Child A, Callewaert BL, et al. The new Ghent criteria for Marfan syndrome: what do they change?. Clin Genet. 2012 May. 81 (5):433-42. [QxMD MEDLINE Link].

24. Pepe G, Lapini I, Evangelisti L, Attanasio M, Giusti B, Lucarini L, et al. Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up. Mol Vis. 2007 Nov 29. 13:2242-7. [QxMD MEDLINE Link]. [Full Text].

25. Cipriano GF, Peres PA, Cipriano G Jr, Arena R, Carvalho AC. Safety and cardiovascular behavior during pulmonary function in patients with Marfan syndrome. Clin Genet. 2010 Jul. 78 (1):57-65. [QxMD MEDLINE Link].

26. Wang R, Ma WG, Tian LX, Sun LZ, Chang Q. Valve-sparing operation for aortic root aneurysm in patients with Marfan syndrome. Thorac Cardiovasc Surg. 2010 Mar. 58 (2):76-80. [QxMD MEDLINE Link].

27. Giacheti CM, Zanchetta S, Maranhe E, Cassab TV, Abramides DV, Souza DH, et al. A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities. Am J Med Genet A. 2007 Dec 15. 143A (24):3137-9. [QxMD MEDLINE Link].

28. Mariucci EM, Lovato L, Rosati M, Palena LM, Bonvicini M, Fattori R. Dilation of peripheral vessels in Marfan syndrome: importance of thoracoabdominal MR angiography. Int J Cardiol. 2013 Sep 10. 167 (6):2928-31. [QxMD MEDLINE Link].

29. Gjolaj JP, Sponseller PD, Shah SA, Newton PO, Flynn JM, Neubauer PR, et al. Spinal deformity correction in Marfan syndrome versus adolescent idiopathic scoliosis: learning from the differences. Spine (Phila Pa 1976). 2012 Aug 15. 37 (18):1558-65. [QxMD MEDLINE Link].

30. Gott VL, Cameron DE, Pyeritz RE, Gillinov AM, Greene PS, Stone CD, et al. Composite graft repair of Marfan aneurysm of the ascending aorta: results in 150 patients. J Card Surg. 1994 Sep. 9 (5):482-9. [QxMD MEDLINE Link].

31. Levy BJ, Schulz JF, Fornari ED, Wollowick AL. Complications associated with surgical repair of syndromic scoliosis. Scoliosis. 2015. 10:14. [QxMD MEDLINE Link].

32. Dietz HC, Loeys B, Carta L, Ramirez F. Recent progress towards a molecular understanding of Marfan syndrome. Am J Med Genet C Semin Med Genet. 2005 Nov 15. 139C (1):4-9. [QxMD MEDLINE Link]. [Full Text].

Prashanth Inna, MBBS, MS, DNB Consultant in Pediatric Orthopedic Surgery, Manipal Hospitals of Bangalore and Dr Malathi Manipal Hospitals, India

Prashanth Inna, MBBS, MS, DNB is a member of the following medical societies: Medical Council of India, Indian Orthopedic Association, National Academy of Medical Sciences (India)

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

George H Thompson, MD Director of Pediatric Orthopedic Surgery, Rainbow Babies and Children’s Hospital, University Hospitals Case Medical Center, and MetroHealth Medical Center; Professor of Orthopedic Surgery and Pediatrics, Case Western Reserve University School of Medicine

George H Thompson, MD is a member of the following medical societies: American Orthopaedic Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America, American Academy of Orthopaedic Surgeons

Disclosure: Received none from OrthoPediatrics for consulting; Received salary from Journal of Pediatric Orthopaedics for management position; Received none from SpineForm for consulting; Received none from SICOT for board membership.

Jeffrey D Thomson, MD Professor of Orthopedic Surgery, University of Connecticut School of Medicine; Director of Orthopedic Surgery, Connecticut Children’s Medical Center; Vice President of Medical Staff, Connecticut Children's Medical Center

Jeffrey D Thomson, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, Pediatric Orthopaedic Society of North America, Scoliosis Research Society

Disclosure: Nothing to disclose.

Charles T Mehlman, DO, MPH Professor of Pediatrics and Pediatric Orthopedic Surgery, Division of Pediatric Orthopedic Surgery, Director, Musculoskeletal Outcomes Research, Cincinnati Children's Hospital Medical Center

Charles T Mehlman, DO, MPH is a member of the following medical societies: American Academy of Pediatrics, American Fracture Association, Scoliosis Research Society, Pediatric Orthopaedic Society of North America, American Medical Association, American Orthopaedic Foot and Ankle Society, American Osteopathic Association, Arthroscopy Association of North America, North American Spine Society, Ohio State Medical Association

Disclosure: Nothing to disclose.

Khalid Channell, MD Staff Physician, Department of General Surgery, Division of Orthopedic Surgery, King Drew Medical Center

Disclosure: Nothing to disclose.

Eleby R Washington III, MD, FACS Associate Professor, Department of Surgery, Division of Orthopedics, Charles R Drew University of Medicine and Science

Eleby R Washington III, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American College of Surgeons, American Medical Association, International College of Surgeons, and National Medical Association

Disclosure: Nothing to disclose.

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