Gómez-González Mauricio D, Tapia-Paredes Mariana, Colín-Lizalde Luis de Jesús, González-Ruíz Francisco, Herrera-Alarcón Valentín, Soto-López María E
Servicio de Cirugía Cardiovascular, Centro Médico ABC, Ciudad de México, México.
Departamento de servicio social, Universidad La Salle, Ciudad de México, México.
Arch Cardiol Mex. 2021 Nov 1;91(4):480-484. doi: 10.24875/ACM.20000397.
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.
MASS综合征(一种以二尖瓣、主动脉、骨骼和皮肤受累为特征的结缔组织疾病)是一种罕见的遗传性疾病,其表型与马凡综合征相似,但在心血管方面存在重要差异,如无主动脉根部瘤且二尖瓣受累明显。我们报告一例MASS综合征患者,并回顾关于这些差异的有限文献,同时讨论这些信息对心血管手术决策可能产生的影响。