Extreme Late Presentation of Marfan Aortopathy: Clinical, Surgical, and Decision-Making Challenges

马凡氏综合征主动脉病极晚期表现:临床、外科及决策挑战

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Abstract

BACKGROUND: Marfan syndrome-associated aortic root aneurysms carry a high risk of dissection and sudden death, supporting guideline-directed prophylactic surgery at ≥50 mm. CASE SUMMARY: A 34-year-old man with Marfan syndrome and a strong family history was diagnosed at age 22 years with a 63-mm aortic root aneurysm and moderate aortic regurgitation. He declined recommended Bentall surgery and was lost to follow-up for 12 years. He re-presented with dyspnea and palpitations. Imaging showed a 111 × 108 mm aortic root aneurysm with severe aortic regurgitation and atrial fibrillation. He underwent successful modified Bentall surgery with mechanical valve replacement and AlboGraft conduit and remained asymptomatic at 5 months. DISCUSSION: Extreme late presentation markedly increases surgical complexity and preventable morbidity. TAKE-HOME MESSAGES: Extreme late presentation of Marfan aortopathy transforms a standardized prophylactic operation into a technically demanding procedure with significant clinical consequences, even when repair is successful. Delayed intervention permits progression to advanced disease with preventable morbidity, underscoring the importance of timely, guideline-directed management.

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