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Molecular Basis of Pulmonary Disease pp 225–245Cite as

The Marfan Syndrome

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Part of the book series: Respiratory Medicine ((RM))

Abstract

Marfan syndrome (MFS), a multisystem disorder of connective tissue, was described more than a century ago. Ground-breaking advances in the understanding of MFS were punctuated by the discovery of fibrillin, the identification of the FBN-1 as the causative gene, and the dissection of molecular pathogenesis through the creative use of animal models. The role of TGFb signaling in fibrillinopathies and related disorders is the most recent mechanistic development. Respiratory system involvement, although not as well characterized as the classic skeletal, ocular, and cardiac manifestations, can be clinically consequential. The lung manifestations of MFS may provide a mechanistic window not only on the pathobiology of the syndrome but also on other lung disorders with similar presentations.

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Authors and Affiliations

  1. Department of Internal Medicine, University of Cincinnati School of Medicine, Cincinnati, OH, USA

    Amaresh Nath MD

  2. Department of Internal Medicine, John Hopkins University School of Medicine, Baltimore, MD, USA

    Enid R. Neptune MD

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  1. Amaresh Nath MD
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Editors and Affiliations

  1. Div. Pulmonary & Critical Care, University of Cincinnati, Albert Sabin Way 231, Cincinnati, 45267, USA

    Francis X. McCormack

  2. Div. Pulmonary & Critical Care, University of Cincinnati, Albert Sabin Way 231, Cincinnati, 45267, USA

    Ralph J. Panos

  3. Medical Center, Cincinnati Children's Hospital, Burnet Ave. 3333, Cincinnati, 45229, USA

    Bruce C. Trapnell

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Nath, A., Neptune, E.R. (2010). The Marfan Syndrome. In: McCormack, F., Panos, R., Trapnell, B. (eds) Molecular Basis of Pulmonary Disease. Respiratory Medicine. Humana Press. https://doi.org/10.1007/978-1-59745-384-4_10

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