Marfan syndrome (MFS) is an inherited connective tissue disorder characterised by a mutation involving the Fibrillin (FBN) gene. It is transmitted as autosomal dominant trait with complete penetrance and variable expressivity. The diagnosis is largely clinical guided by Ghent nosology and is characterized by cardinal features that affect predominantly affects three systems: i) Musculoskeletal, ii) Ocular and iii) Cardiovascular.Scoliosis is the most common musculoskeletal manifestation in MFS. Inaddition affected patients may also have basilar impression, cervical kyphosis, dural ectasia, spondylolisthesis and low bone mineral density (BMD). This chapter provides a comprehensive summary of spinal deformities seen in MFS and its treatment thereof. The surgical management of scoliosis that is refractory to non-operative treatment modalities is influenced by age at presentation and the severity of the deformity. Growth guided surgery is recommended for neonatal, infantile and juvenile MFS whilst an instrumented posterior spinal fusion is undertaken for adolescent and adult scoliosis. Magnet-driven growing rods (MdGR) are an attractive novel implant that addresses the early-onset spinal deformity of MFS.
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The authors would like to acknowledge Dr. JH Perra, MD, FACS – Attending spinal surgeon; Twin Cities Spine Center and Gillette Children’s Specialty Healthcare – Minneapolis, MN, U.S.A for providing us with the pictures of the rapid prototyping (RP) model and 3D-CT images of a congenital spinal deformity (Fig. 12.1).
Conflict of Interest (CoI)
NS Harshavardhana: No relationships
Mohammed H. H. Noordeen:
Ellipse Tech, Inc. – Consultant and stockholder
K2M – Consultant
Stryker Spine – Research and educational support (no period)
Authorship Contribution Statement
The two authors (i.e. NSH and MHHN) jointly wrote and made substantial contributions in drafting the outline for the chapter. The clinical case example radiographs are from patients operated upon by MHHN. Both the authors read and approved the final draft of the submitted manuscript. We take full responsibility for the contents of this publication, attesting to both its accuracy and integrity, and we agree to be accountable for all aspects of the work.
Marfan AB. Un cas de déformation congénitale des quatre membres, plus prononcée aux extrémités caractérisée par l’allongement des os avec un certain degré d’amincissement. Bull Mem Soc Med Hop Paris. 1896;13:220–6.Google Scholar
Dietz HC, Pyeritz RE, Hall BD, et al. The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15–q21.3. Genomics. 1991;9:355–61.CrossRefPubMedGoogle Scholar
Dietz HC, Cutting GR, Pyeritz RE, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991;352:337–9.CrossRefPubMedGoogle Scholar
Frédéric MY, Monino C, Marschall C, et al. The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. Hum Mutat. 2009;30:181–90.CrossRefPubMedGoogle Scholar
Sakai H, Visser R, Ikegawa S, et al. Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes. Am J Med Genet A. 2006;140:1719–25.CrossRefPubMedGoogle Scholar
Yoon WW, Sedra F, Shah S, et al. Improvement of pulmonary function in children with early-onset scoliosis using magnetic growth rods. Spine. 2014;39(15):1196–202.CrossRefPubMedGoogle Scholar
Cheung KM, Cheung JP, Samartzis D, et al. Magnetically controlled growing rods for severe spinal curvature in young children: a prospective case series. Lancet. 2012;379(9830):1967–74.CrossRefPubMedGoogle Scholar
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;38(8):665–70.CrossRefPubMedGoogle Scholar
Dannawi Z, Altaf F, Harshavardhana NS, et al. Early results of a remotely-operated magnetic growth rod in early-onset scoliosis. Bone Joint J. 2013;95-b(1):75–80.CrossRefPubMedGoogle Scholar
Akbarnia BA, Pawelek JB, Cheung KMC, et al. Traditional growing rods versus magnetically controlled growing rods for the surgical treatment of early-onset scoliosis: a case-matched 2-year study. Spine Deform. 2014;2(6):493–7.CrossRefGoogle Scholar
Hickey BA, Towriss C, Baxter G, et al. Early experience of MAGEC magnetic growing rods in the treatment of early onset scoliosis. Eur Spine J. 2014;23 Suppl 1:S61–5.CrossRefPubMedGoogle Scholar
Schwartz DM, Drummond DS, Hahn M, et al. Prevention of positional brachial plexopathy during surgical correction of scoliosis. J Spinal Disord. 2000;13(2):178–82.CrossRefPubMedGoogle Scholar
Stokes OM, O’Donovan EJ, Samartzis D, et al. Reducing radiation exposure in early-onset scoliosis surgery patients: novel use of ultrasonography to measure lengthening in magnetically-controlled growing rods. Spine J. 2014;14(10):2397–404.CrossRefPubMedGoogle Scholar
Karol LA, Johnston C, Mladenov K, et al. Pulmonary function following early thoracic fusion in non-neuromuscular scoliosis. J Bone Joint Surg Am. 2008;90(6):1272–81.CrossRefPubMedGoogle Scholar
Gjolaj JP, Sponseller PD, Shah SA, et al. Spinal deformity correction in Marfan syndrome versus adolescent idiopathic scoliosis: learning from the differences. Spine. 2012;37(18):1558–65.CrossRefPubMedGoogle Scholar
Jones KB, Erkula G, Sponseller PD, Dormans JP. Spine deformity correction in Marfan syndrome. Spine. 2002;27(18):2003–12.CrossRefPubMedGoogle Scholar
Harshavardhana NS, Noordeen MH. Surgical results with the use of Silicated Calcium Phosphate (SiCaP) as bone graft substitute in Posterior Spinal Fusion (PSF) for Adolescent Idiopathic Scoliosis (AIS). Scoliosis. 2015;10(27):1–12.Google Scholar
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;330:1335–41.CrossRefPubMedGoogle Scholar
Nuss D, Kelly RE, Croitoru DP, et al. A 10-year review of a minimally invasive technique for the correction of pectus excavatum. J Pediatr Surg. 1998;33(4):545–52.CrossRefPubMedGoogle Scholar
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;38(4):E259–62.CrossRefPubMedGoogle Scholar