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.

El síndrome de MASS (que afecta a: válvula mitral [M], aorta [A], piel [S, skin], sistema musculoesquelético [S, skeletal]) es una rara enfermedad genética con un fenotipo similar al del síndrome de Marfan, pero con diferencias cardiovasculares importantes, como ausencia de afección de la raíz aórtica y marcada afectación mitral. Presentamos el caso de una paciente con síndrome de MASS y revisamos la limitada literatura con respecto a estas diferencias; finalmente discutimos acerca del impacto que pudiera tener esta información con respecto a las decisiones desde el punto de vista de la cirugía cardiovascular.

Intravascular lipomas (IVL) located in the superior vena cava (SVS) are rare benign primary venous tumors with less than 15 cases reported in the literature. We report a case of a 64-year-old woman with IVL of the SVC extending to the right brachiocephalic vein. She was treated successfully using a hybrid procedure which involved endovascular control of the right subclavian vein and surgical approach via median sternotomy followed by mass resection and use of pericardial patch for vein defect closure.