Organ Donation in Marfan Syndrome: Is It a Case to Stretch Boundaries?

Abstract

Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. It primarily affects the cardiovascular, ocular, and skeletal systems. Despite improved survival outcomes, organ donation from these patients remains rare due to concerns of vascular fragility. A 44-year-old male with Marfan syndrome was considered for organ donation following brain stem death due to a massive intracerebral hemorrhage caused by a ruptured arteriovenous malformation. He had a history of mitral valve replacement and kyphoscoliosis. His liver and renal function tests were within normal limits. Consent for donation was subsequently obtained. Intra-operative findings revealed a grossly deformed liver and thin, friable vasculature, prompting the retrieval team to abandon the procedure. Biopsies from the liver and iliac artery were obtained for histopathological evaluation. Liver histology showed mild fibrosis without significant steatosis or inflammation. Iliac artery biopsy revealed cystic medionecrosis (with risk of aneurysmal formation), typically seen in Marfan syndrome. Although limited literature exists on organ donation in Marfan syndrome, rare successful liver transplants have been reported. However, vascular fragility and risk of aneurysmal changes remain a concern. Our intra-operative findings and supporting histology reinforce the challenges in safely retrieving organs from donors with Marfan syndrome. While expanding donor criteria is crucial in meeting growing transplant demands, this case highlights the importance of careful intra-operative assessment and maintenance of a low threshold for abandonment in the presence of concerning vascular or organ abnormalities in donors with Marfan syndrome.