Skip to main content Accessibility help
×
Hostname: page-component-848d4c4894-tn8tq Total loading time: 0 Render date: 2024-07-06T10:38:01.116Z Has data issue: false hasContentIssue false

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
Get access

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

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

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

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×