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Chapter 50 - Marfan Syndrome

from Section 7 - Miscellaneous Lesions and Syndromes

Published online by Cambridge University Press:  09 September 2021

Laura K. Berenstain
Affiliation:
Cincinnati Children's Hospital Medical Center
James P. Spaeth
Affiliation:
Cincinnati Children's Hospital Medical Center
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Summary

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by FBN1 gene mutations on chromosome 15, resulting in defective fibrillin-1 matrix glycoproteins manifesting as tissue abnormalities. Aberrant protein expressions increase and worsen with age and are most notoriously manifested in the musculoskeletal, cardiovascular, and ophthalmic systems. Cardinal clinical features include aortic root dilatation and ectopia lentis. Other clinical manifestations may include pectus excavatum or carinatum, scoliosis, dural ectasia, pulmonary involvement (emphysema, lung cysts, spontaneous pneumothorax), retrognathia, malar hypoplasia, and joint abnormalities. Aortic root dilatation is seen in approximately 50% of young children with MFS, with the risk of aortic rupture increasing during the teenage years. The Nuss procedure, a minimally invasive approach involving the placement of a retrosternal bar to correct the depressed anterior chest wall, has become the technique of choice for correction of pectus excavatum deformity. This chapter describes the anesthetic and perioperative management of a patient with MFS undergoing a Nuss procedure for correction of a pectus deformity.

Type
Chapter
Information
Congenital Cardiac Anesthesia
A Case-based Approach
, pp. 386 - 392
Publisher: Cambridge University Press
Print publication year: 2021

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References

Suggested Reading

Ammash, N. M., Sundt, T. M., and Connolly, H. M. Marfan syndrome: diagnosis and management. Curr Probl Cardiol 2008; 33: 739.CrossRefGoogle ScholarPubMed
Castellano, J. M., Silvay, G., and Castillo, J. G. Marfan syndrome: clinical, surgical, and anesthetic considerations. Semin Cardiothorac Vasc Anesth 2014; 18: 260–71.Google Scholar
Fraser, S., Child, A., and Hunt, I. Pectus updates and special considerations in Marfan syndrome. Pediatr Rep 2018; 9: 7277.CrossRefGoogle ScholarPubMed
Mavi, J. and Moore, D. L. Anesthesia and analgesia for pectus excavatum surgery. Anesthesiol Clin 2014; 32: 175–84.CrossRefGoogle ScholarPubMed
Nuss, D., Obermeyer, R. J., and Kelly, R. E. Nuss bar procedure: past, present and future. Ann Cardiothorac Surg 2016; 5: 422–33.Google Scholar
Russo, V., Ranno, M., and Nigro, G. Cardiopulmonary resuscitation in pectus excavatum patients: is it time to say more? Resuscitation 2015; 88: e5e6.CrossRefGoogle ScholarPubMed
Wilson, W., Taubert, K., Gewitz, M., et al. Prevention of infective endocarditis: Guidelines from the American Heart Association, by the Committee on Rheumatic Fever, Endocarditis, and Kawasaki Disease. Circulation 2007; 116: 1736–54.Google Scholar
Wright, M. J. and Connolly, H. M. Management of Marfan syndrome and related disorders. UptoDate. 2018. www.uptodate.com/contents/management-of-marfan-syndrome-and-related-disorders (accessed July 4, 2019).Google Scholar

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