Ruptured abdominal aortic aneurysm repair in pediatric Marfan syndrome patient

Area of Science:

• Cardiovascular Medicine
• Genetics
• Pediatric Surgery

Background:

• Marfan syndrome is an autosomal dominant genetic disorder affecting connective tissue, primarily due to FBN1 gene mutations.
• Aortic degeneration, including dissection and ascending aortic aneurysms, is a well-documented complication of Marfan syndrome.
• Abdominal aortic aneurysms (AAAs) and their occurrence in pediatric populations with Marfan syndrome are rarely reported.

Observation:

• This case report focuses on a pediatric patient diagnosed with Marfan syndrome.
• The patient presented with a ruptured abdominal aortic aneurysm, a rare manifestation in this demographic.
• The condition required immediate and complex surgical intervention.

Findings:

• Successful open surgical repair of the ruptured abdominal aortic aneurysm was performed.
• The pediatric patient with Marfan syndrome experienced a full recovery post-surgery.
• This case highlights the possibility of severe aortic complications beyond the ascending aorta in pediatric Marfan syndrome.

Implications:

• This case underscores the importance of considering rare aortic pathologies, such as abdominal aortic aneurysms, in pediatric patients with Marfan syndrome.
• Early diagnosis and prompt surgical management are crucial for favorable outcomes in these complex cases.
• Further research into the prevalence and management of non-ascending aortic aneurysms in pediatric Marfan syndrome is warranted.