Totally Endoscopic Mitral Valve Repair in a Young Patient with Marfan Syndrome and Barlow Disease: A Case Report

Abstract

Objective: Barlow disease is a complex form of degenerative mitral valve disease characterized by diffuse myxomatous degeneration, excess leaflet tissue, bileaflet prolapse, annular dilatation, and severe mitral regurgitation. In patients with Marfan syndrome, connective tissue abnormalities may further increase anatomical complexity. This report describes the diagnostic work-up, operative strategy, and early outcome of totally endoscopic mitral valve repair in a young adult with Marfan syndrome and Barlow disease.

Case presentation: A thirty-one-year-old male patient with Marfan syndrome, progressive exertional dyspnea, and severe degenerative mitral regurgitation underwent clinical examination, electrocardiography, chest radiography, transthoracic echocardiography, transesophageal echocardiography, and thoraco-abdomino-pelvic computed tomography angiography for preoperative planning. Surgical treatment consisted of totally endoscopic mitral valve repair using expanded polytetrafluoroethylene neochordae, cleft closure, commissural repair, and prosthetic ring annuloplasty. The computed tomography angiography did not identify pathological thoraco-abdomino-pelvic findings and supported the feasibility of peripheral cannulation and endoscopic access. The procedure was completed successfully. Post-repair echocardiography demonstrated satisfactory leaflet coaptation, no residual mitral regurgitation, absence of systolic anterior motion, normal transmitral gradients, and a coaptation zone of approximately fifteen millimeters. The postoperative course was uneventful, and the patient was discharged home on postoperative day six, with progressive resumption of daily activities.

Conclusions: This case illustrates the feasibility and favorable early outcome of totally endoscopic mitral valve repair in a selected young patient with Marfan syndrome and complex degenerative mitral valve disease treated in an experienced center. Careful multimodality imaging, individualized repair strategy, and structured follow-up are essential for durable functional results.