We report here a sudden death case of a patient previously diagnosed as Marfan syndrome (MFS). The victim was dead on the wheel and the cause of death was diagnosed to be a rupture of the thoracic aorta by autopsy findings. MFS is an autosomal dominant disorder of the connective tissue and can be a cause of sudden death. Postmortem genetic analysis revealed a heterozygous p.C1307Y of the FBN1 gene, which is responsible for pathogenesis of MFS, was evident. This substitution was not found in 400 alleles from control individuals. In addition, the position 1307 is highly conserved among species. Because the position 1307 serves as part of the Cys1307-Cys1320 disulfide bond of the fibrillin-1, the p.C1307Y substitution results in loss of the intramolecular disulfide bond. The p.C1307Y substitution may be associated with the pathology of the present case, and show a higher risk for aortic rupture and subsequent sudden death.
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