Giant aortic aneurysm and rhabdomyomas in infant with tuberous sclerosis (case report)

Area of Science:

• Cardiovascular Surgery
• Pediatric Cardiology
• Medical Imaging

Background:

• Tuberous sclerosis is a genetic disorder that causes tumors to grow in various organs.
• Abdominal aortic aneurysms are rare in infants, with few documented cases.
• Aortic dissection is a tear in the inner layer of the aorta, a life-threatening condition.

Observation:

• An eight-month-old infant presented with a giant aneurysm and dissection of the abdominal aorta.
• Helicoid computerized axial tomography with 3D reconstruction revealed a large lesion extending from the diaphragm to the iliac arteries.
• The infant also had non-obstructive heart rhabdomyomas and tubers in the brain.

Findings:

• The combination of abdominal aortic aneurysm, heart rhabdomyomas, and brain tubers strongly suggested tuberous sclerosis.
• Advanced imaging was crucial in diagnosing the extent of the aortic pathology and associated conditions.
• This case highlights the potential for severe vascular manifestations of tuberous sclerosis in infants.

Implications:

• Early diagnosis and intervention are critical for managing life-threatening vascular complications in infants with tuberous sclerosis.
• Multidisciplinary care involving pediatric surgeons, cardiologists, neurologists, and radiologists is essential.
• Further research is needed to understand the pathogenesis and optimize treatment strategies for vascular abnormalities in tuberous sclerosis.