Lethal Fungal Aortitis In Surgically Corrected Supravalvular Aortic Stenosis In A Child With Williams Syndrome

Area of Science:

• Cardiovascular Surgery
• Pediatric Cardiology
• Genetics and Rare Diseases

Background:

• Williams syndrome (WS) is a genetic disorder affecting multiple systems, with supravalvular aortic stenosis (SVAS) as its most frequent cardiovascular complication.
• Early diagnosis and intervention for SVAS in WS are crucial for managing associated risks, including stroke and hemodynamic compromise.

Observation:

• A 2.5-year-old male with WS presented with cognitive delay, stroke history, and severe SVAS (105 mmHg gradient).
• Imaging revealed diffuse ascending aorta stenosis with thrombus, necessitating surgical repair with pericardial augmentation.
• A post-operative pseudoaneurysm and subsequent fungal sepsis complicated the patient's recovery.

Findings:

• Surgical reconstruction of the ascending aorta using autologous pericardial patches was performed.
• A rare complication of sternal wound pseudoaneurysm occurred 6 weeks post-surgery.
• Emergency re-operation for fungal vegetation removal and aortic reconstruction preceded the patient's demise due to fungal sepsis.

Implications:

• This case underscores the potential for severe, life-threatening complications following SVAS repair in WS patients.
• It emphasizes the need for vigilant post-operative monitoring for rare complications like pseudoaneurysms and invasive fungal infections.
• Management strategies for WS-associated SVAS may require tailored approaches to mitigate risks of both surgical and infectious complications.