Cardiovascular behavior and decision in MASS syndrome. A case report and literature review

Abstract

MASS syndrome (disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin) is a rare genetic disease with a phenotype similar to that of Marfan syndrome, but with important cardiovascular differences like the absence of aortic root aneurysm and marked mitral affection. We present a case of a patient with MASS syndrome and review the limited literature addressing these differences, and we discuss the impact this information may have in decisions regarding cardiovascular surgery.