eMedicine Specialties > Orthopedic Surgery > Pediatrics
Marfan Syndrome: Treatment
Updated: Feb 21, 2008
Treatment
Medical Therapy
The majority of medical therapy as it relates to MFS has been targeted at preventing cardiovascular compromise, which is the most likely cause of demise in this patient population.10 Beta-blockers and afterload reduction agents are used to reduce stress on the aortic and mitral valves and the aortic root.14
Given that patients with MFS often have abnormal or prosthetic valves, all patients must receive routine antibiotic prophylaxis before undergoing procedures that could produce bacteremia. Researchers have demonstrated that the entire aorta, and especially the root, is stiffer than normal in patients with MFS.
Beta-blockers have been used in attempts to decrease the onset and rate of aortic root dilatation and dissection. Studies have demonstrated a synergistic effect with regard to the reduction of aortic stiffness, decreased vascular resistance, and improved cardiac compliance when nitroprusside and beta-blockers are used concomitantly.
Beta blockade is used because it is believed to reduce both inotropy and chronotropy and thus reduce the stress on the aortic root. Nitroprusside reduces overall systemic vascular resistance, which serves to reduce overall afterload and stress on the heart. Whether these effects translate into decreased morbidity and mortality at this time is unclear, as no long-term studies have been preformed yet. Calcium channel blockers (eg, verapamil) are being investigated to assess their effects on cardiovascular physiology in patients with MFS.
Scoliosis is the most common major skeletal deformity encountered in patients with MFS that requires intervention. No specific medicinal intervention exists to treat scoliosis. Nonoperative means of treatment (eg, bracing) may be attempted but are usually unsuccessful. Scoliosis occurs in approximately 50-70% of patients with MFS and differs from idiopathic adolescent scoliosis with regard to curve pattern, progression, and symptoms. The double right thoracic – left lumbar curve is the most common type among patients with MFS, whereas a single pattern is usually seen in the idiopathic type. Pelvic obliquity is uncommon in both types, however.
Unfortunately, these patients often have an earlier onset of scoliosis with severely rigid, painful, and deforming curves, as well as have a high incidence of curve progression. The curve progression may average 7-10° per year after the onset of scoliosis, and the curve often progresses rapidly in the early adolescent period during maximal vertebral growth. This is also in contrast to the idiopathic type, which is typically not painful and is not as progressively deforming as the scoliosis in patients with MFS. Scoliosis, in combination with poor musculature and chest deformities, can cause significant respiratory compromise, which mandates early detection and prevention, if possible, in this patient population.
Nonoperative intervention for the scoliosis typically involves observation followed by the use of a thoracolumbosacral orthosis (TLSO) if the curve is mild and reveals signs of progression. Bracing is controversial; many surgeons believe that the bulk of curves in patients with MFS progress regardless of bracing and thus require operative intervention to prevent worsening deformity.
[#curve]For patients with curves less than 25°, observation and serial radiographs every 3-4 months is the recommended management. When the curve ranges from 25-40°, Milwaukee bracing or an underarm TLSO is used. This may be a bridge to future surgical intervention. Bracing is only used in patients with mild curves (ie, 25-40°) and no sagittal plane deformity (ie, thoracic lordosis or lumbar kyphosis). Bracing is not indicated for curves that are rigid, large, or have associated sagittal deformities.
Surgical Therapy
Mitral valve regurgitation may become so severe that medical therapy must be replaced with surgical intervention. The mitral valve is often found to have a dilated annulus, redundant and flaccid cusps, and ruptured chordae tendineae. Mitral valve repair is undertaken if possible, to delay the eventual mitral valve replacement; this is done because these patients often present at a young age and may require further reconstructive surgery later. Surgical repair also preserves papillary muscle function and obviates chronic anticoagulation, unlike artificial valve replacement.
The ascending aorta (aortic root) or the incompetent aortic valve may also require repair. Either a composite graft or a valve-sparing technique is performed.15 The valve-sparing technique is usually performed in patients whose aorta has dilated to approximately 50 mm. Patients with widely dilated aortic roots or significantly attenuated aortic cusps typically undergo a composite graft repair. This is also the procedure of choice in the case of an acute aortic root dissection. Some surgeons advocate prophylactic composite grafting in patients who have a history of increasing aortic dilatation and a family history of sudden cardiovascular death.
The major indication for surgery for the musculoskeletal system involves progression of moderate to severe scoliosis. Chest-wall deformities may also be so severe that they impact cardiopulmonary mechanics; these can be surgically corrected as well. In the past, patients with MFS did not have these chest-wall deformities addressed, and most died at an early age due to intrinsic cardiovascular disease. The advent of successful aortic root surgery as well as aortic and mitral valve replacement has changed the overall long-term outlook for patients with the disease. Adequate treatment should be provided for those with scoliosis to reduce pain, to improve overall cosmetic appearance, and, most importantly, to improve pulmonary mechanics through reduction of spinal and chest-wall deformities.
As previously described, bracing can be considered in patients with mild curves (see the Medical therapy section). However, most patients with MFS will have significant curve progression that eventually warrants surgical intervention. Patients with curves greater than 40-50º or with associated abnormal sagittal curvature deformities require surgery. Posterior spinal fusion and segmental spinal instrumentation, along with autogenous bone grafting, are the mainstay of treatment. Most authors agree that scoliosis can be corrected with this approach; however, the overall incidence of complications varies in different series. Pseudoarthrosis and loss of correction can occur and are problematic; the incidence rates range from 12-40%.
Most authors recommend aggressive bone grafting, rigid internal fixation, and adequate patient surveillance postoperatively to diagnose complications early in the clinical course. Sagittal malalignment (kyphotic deformity) may require an anterior fusion (excision of discs) followed by posterior spinal fusion and segmental spinal instrumentation to achieve satisfactory correction of the sagittal alignment.
Preoperative Details
The most important aspect in the preoperative evaluation of patients with MFS is to rule out any imminent cardiac compromise. A complete cardiac workup, including electrocardiography followed by echocardiography, is mandatory. It is well known that aortic dilatation and subsequent rupture can develop throughout these patients' childhood and adult life; thus, one must be diligent to exclude these entities before any surgical undertaking. Any evidence of aortic dilatation must be treated medically or surgically before any spinal reconstruction is attempted.
Complications
See Surgical therapy.
More on Marfan Syndrome |
| Overview: Marfan Syndrome |
| Workup: Marfan Syndrome |
 Treatment: Marfan Syndrome |
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References
Ammash NM, Sundt TM, Connolly HM. Marfan syndrome-diagnosis and management. Curr Probl Cardiol. Jan 2008;33(1):7-39. [Medline].
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].
Tachdjian MO. Marfan's syndrome. In: Herring JA, ed. Tachdjian's Pediatric Orthopaedics. 3rd ed. Philadelphia, Pa: WB Saunders; 1990:829-37.
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].
Judge DP, Dietz HC. Therapy of Marfan syndrome. Annu Rev Med. Feb 18 2008;59:43-59. [Medline].
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].
Demetracopoulos CA, Sponseller PD. Spinal deformities in Marfan syndrome. Orthop Clin North Am. Oct 2007;38(4):563-72, vii. [Medline].
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].
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].
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].
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].
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.
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.
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].
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].
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].
Maumenee IH. The eye in the Marfan syndrome. Trans Am Ophthalmol Soc. 1981;79:684-733. [Medline]. [Full Text].
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].
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].
Further Reading
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
