Abstract
Marfan syndrome (MFS) is a relatively common and often lethal disease of connective tissue. Medical, surgical and basic research advances over the last two decades have had a major positive impact on the clinical management of MFS patients. Life expectancy has increased significantly, more discriminating diagnostic criteria have been developed, a number of new clinical entities have been recognized, and exciting opportunities for drug-based therapy have emerged. Despite such a remarkable progress, MFS diagnosis remains difficult and aortic disease progression is very heterogeneous and clinical outcome is unpredictable. Ongoing research efforts are therefore exploiting animal models of MFS to identify novel diagnostic and prognostic biomarkers, genetic, epigenetic and environmental modifiers and druggable biological targets.
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Acknowledgments
Studies from the authors’ laboratory described in the review were supported by grants from the National Institutes of Health (AR-049698, AR-42044 and T32GM007280) and the National Marfan Foundation. We thank Ms. Karen Johnson for organizing the manuscript.
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Cook, J.R., Ramirez, F. (2014). Clinical, Diagnostic, and Therapeutic Aspects of the Marfan Syndrome. In: Halper, J. (eds) Progress in Heritable Soft Connective Tissue Diseases. Advances in Experimental Medicine and Biology, vol 802. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-7893-1_6
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