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A Systematic Approach to Marfan Syndrome and Hereditary Forms of Aortic Dilatation and Dissection

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Abstract

Marfan syndrome (MFS) is a relatively common disorder of connective tissue with autosomal dominant inheritance and highly variable, age-dependent manifestations involving the skeletal, ocular, and cardiovascular systems. The differential diagnosis of Marfan syndrome is made difficult by the lack of a simple test to interpret and readily available molecular test, by the range of related disorders, by the extreme intra- and interfamilial variability of MFS, and by the age-­dependent manifestation of most of the clinical signs. This chapter intends to provide an overview of MFS and other hereditary disorders characterized by dilatation or dissection of the ascending thoracic aorta, to outline the steps needed to identify the correct diagnosis, and to provide pointers regarding clinical follow-up and treatment of affected persons.

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  1. Institut für Medizinische Genetik, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany

    Peter N. Robinson

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  1. Peter N. Robinson
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Correspondence to Peter N. Robinson .

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  1. Masonic Medical Research Laboratory, Bleecker St. 2150, Utica, 13501, U.S.A.

    Ramon Brugada

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Robinson, P.N., von Kodolitsch, Y. (2010). A Systematic Approach to Marfan Syndrome and Hereditary Forms of Aortic Dilatation and Dissection. In: Brugada, R. (eds) Clinical Approach to Sudden Cardiac Death Syndromes. Springer, London. https://doi.org/10.1007/978-1-84882-927-5_18

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