Abstract
Marfan syndrome is one of the most common inherited connective tissue disorders, and it is caused by abnormalities in the fibrillin-1 gene. This results in a series of cardiovascular and musculoskeletal abnormalities that may be responsible for sudden and/or unexpected death. Review of cases and the literature shows that, although sudden death is most commonly the result of hemorrhage from acute aortic dissection, there may be a variety of other lethal mechanisms. These include intra- and extracranial arterial dissection, intra- and extracranial arterial aneurysm rupture, mitral valve prolapse, aortic valvular incompetence with acute cardiac failure, ventricular arrhythmia, endocarditis, and brainstem compression from atlanto-occipital instability. Pregnancy, exercise, and trauma may exacerbate underlying tissue weaknesses in individuals with the syndrome. The phenotypic manifestations of Marfan syndrome vary considerably among individuals, making postmortem diagnosis difficult. Mar-fan syndrome should be suspected in tall individuals with vascular complications, with appropriate tissues and blood taken for DNA extraction (or storage) for genetic analysis if confirmation of the diagnosis is required.
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© 2006 Humana Press Inc., Totowa, NJ
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Byard, R.W. (2006). Sudden and Unexpected Death in Marfan Syndrome. In: Tsokos, M. (eds) Forensic Pathology Reviews. Forensic Pathology Reviews, vol 4. Humana Press. https://doi.org/10.1007/978-1-59259-921-9_4
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DOI: https://doi.org/10.1007/978-1-59259-921-9_4
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