Verhandelingen - Koninklijke Academie voor Geneeskunde van België
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Verh. K. Acad. Geneeskd. Belg. · Jan 2009
ReviewCardiovascular characteristics in Marfan syndrome and their relation to the genotype.
Marfan syndrome (MFS) is a systemic disorder of connective tissue with autosomal dominant inheritance. The diagnosis of MFS is based on the identification of a combination of clinical manifestations in the ocular, musculoskeletal, and cardiovascular organ systems defined in the Ghent Nosology (De Paepe et al, 1996). Confirmation of the diagnosis in an individual requires the presence of major clinical manifestations in at least two organ systems associated with involvement of a third organ system. ⋯ In conclusion, we have refined diagnostic guidelines for the assessment of minor cardiovascular manifestations in MFS, shown that LV dysfunction is part of the cardiovascular spectrum and should be followed in the management of MFS patients, and demonstrated that aortic wave reflection is not elevated in MFS. In this work, we also investigated genotype/phenotype correlations, illustrated the marked (intrafamilial) variability in phenotypic expression of the condition, and the value of molecular testing in the diagnosis of MFS. Overall, this thesis nicely illustrates that close interaction and collaboration between cardiology and genetics is an added value to the study of disease pathogenesis of MFS and aortic aneurysms in general.