eMedicine Specialties > Orthopedic Surgery > Pediatrics

Marfan Syndrome: Follow-up

Author: Khalid Channell, MD, Staff Physician, Department of General Surgery, Division of Orthopedic Surgery, King Drew Medical Center
Coauthor(s): Eleby R Washington III, MD, FACS, Associate Professor, Department of Surgery, Division of Orthopedics, Charles R Drew University of Medicine and Science
Contributor Information and Disclosures

Updated: Feb 21, 2008

Outcome and Prognosis

Recent strides in the management of the cardiovascular manifestations of MFS have led to a significant decrease in the morbidity and mortality that are associated with this condition. Before the advent of pharmacologic and surgical therapy for aortic root and valvular disease, the life expectancy for patients with MFS was about two thirds that of the healthy population. Aortic dissection and congestive heart failure due to aortic and mitral valvular anomalies accounted for over 90% of the known causes of death.

Patient longevity now approaches that of persons without MFS, although cardiovascular compromise is still the most common cause of patient death, likely due to sudden death in the previously undiagnosed patient and a new diagnosis in those whose disease process has progressed beyond the scope of medical or surgical cure.

Future and Controversies

Many new areas of investigation into the etiology and effects of MFS exist. Some are ongoing, whereas others will likely come to the forefront as the disease is more readily understood.

  • With regard to the skeletal system, investigators are seeking to discover new modalities by which to delay or reduce the progression of scoliosis and assess the effect of hypermobility on joint degeneration and deformity.
  • Cardiovascular research has focused on trying to identify patients at risk for compromise as early as possible and to determine if medications other than beta-blockers are useful in terms of their cardioprotective effects.
  • There are some preliminary data based on murine studies that indicate an angiotensin II receptor antagonist agent (eg, losartan) or transforming growth factor-beta neutralizing antibodies may have the potential to reverse some of the primary clinical manifestations in MFS, such as aortic root dilatation, mitral valve prolapse, lung disease, and skeletal muscle dysfunction.6
  • Researchers are also focusing on the effects of laser surgery on the cornea and lens, as well as the correction of cataracts and the preservation of sight.
  • Genetic testing is particularly important. It is known that the FBN1 locus is associated with MFS; however, it is possible that other genes may cause a marfanoid habitus with phenotypic manifestations similar to those seen in MFS.16

Although many discoveries have been made since the original description of MFS in 1896, much investigation is still needed.

 


More on Marfan Syndrome

Overview: Marfan Syndrome
Workup: Marfan Syndrome
Treatment: Marfan Syndrome
Follow-up: Marfan Syndrome
References
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References

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

  2. Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. Jul 25 1991;352(6333):337-9. [Medline].

  3. Tachdjian MO. Marfan's syndrome. In: Herring JA, ed. Tachdjian's Pediatric Orthopaedics. 3rd ed. Philadelphia, Pa: WB Saunders; 1990:829-37.

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

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

  6. Matt P, Habashi J, Carrel T, et al. Recent advances in understanding Marfan syndrome: should we now treat surgical patients with losartan?. J Thorac Cardiovasc Surg. Feb 2008;135(2):389-94. [Medline].

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

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

  9. 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. Apr 1975;57(3):358-68. [Medline]. [Full Text].

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

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

  12. National Heart, Lung and Blood Institute. Marfan syndrome. Available at http://www.nhlbi.nih.gov/health/dci/Diseases/mar/mar_diagnosis.html. Accessed February 15, 2008.

  13. Porter RS, Kaplan JL, Homeier BP, Beers MH, eds. Diagnostic criteria for Marfan syndrome (Ghent nosology) [table]. The Merck Manuals Online Medical Library. Available at http://www.merck.com/media/mmpe/pdf/Table_284-1.pdf. Accessed February 15, 2008.

  14. 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. May 12 1994;330(19):1335-41. [Medline]. [Full Text].

  15. Gott VL, Cameron DE, Pyeritz RE, et al. Composite graft repair of Marfan aneurysm of the ascending aorta: results in 150 patients. J Card Surg. Sep 1994;9(5):482-9. [Medline].

  16. Giacheti CM, Zanchetta S, Maranhe E, 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. Dec 15 2007;143(24):3137-9. [Medline].

  17. Maumenee IH. The eye in the Marfan syndrome. Trans Am Ophthalmol Soc. 1981;79:684-733. [Medline]. [Full Text].

  18. Mommertz G, Sigala F, Langer S, et al. Thoracoabdominal aortic aneurysm repair in patients with Marfan syndrome. Eur J Vasc Endovasc Surg. Feb 2008;35(2):181-6. [Medline].

  19. Pepe G, Lapini I, Evangelisti 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;13:2242-7. [Medline]. [Full Text].

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Further Reading

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Keywords

MFS, Marfan's syndrome, arachnodactyly, long and thin digits, dolichostenomelia, long limbs, pectus deformities, pectus excavatum, pectus carinatum, thoracolumbar scoliosis, aortic dilatation, aortic regurgitation, aortic dissection, aneurysm, mitral valve prolapse, myopia, cataracts, retinal detachment, superior lens dislocation

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Contributor Information and Disclosures

Author

Khalid Channell, MD, Staff Physician, Department of General Surgery, Division of Orthopedic Surgery, King Drew Medical Center
Disclosure: Nothing to disclose.

Coauthor(s)

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.

Medical Editor

Charles T Mehlman, DO, MPH, Director, Musculoskeletal Outcomes Research, Associate Professor, Division of Pediatric Orthopedic Surgery, 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, 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, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

George H Thompson, MD, Director, Pediatric Orthopedics, Rainbow Babies and Children's Hospital
George H Thompson, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Orthopaedic Association, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

CME Editor

Dinesh Patel, MD, FACS, Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital
Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association of Physicians of Indian Origin, American College of International Physicians, and American College of Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Dennis P Grogan, MD, Clinical Professor, Department of Orthopedic Surgery, University of South Florida College of Medicine; Chief of Staff, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa
Dennis P Grogan, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, Eastern Orthopaedic Association, Irish American Orthopaedic Society, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

 
 
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