Mauricio D. Gómez-GonzálezMariana Tapia-ParedesLuis de Jesús Colín-LizaldeFrancisco J. González-RuizValentín Herrera-AlarcónMaría E. Soto-López2026-03-222026-03-22202110.24875/acm.20000397https://doi.org/10.24875/acm.20000397https://andeanlibrary.org/handle/123456789/85909MASS 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.esMedicineAortic rootMarfan syndromeCardiologyInternal medicineAortaGynecologyHumanitiesreview