Work

Extreme Late Presentation of Marfan Aortopathy

Year: 2026

Type: article

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.

Source: JACC Case Reports

DOI: 10.1016/j.jaccas.2026.107403

Authors: Pramod Kumar, Yedidhi Venkata Naga Sree Adithya, Renjith Sreekantan, Ramya Das N K

Institution: Sree Chitra Thirunal Institute for Medical Sciences and Technology

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $850