Homograft replacement of the calcified aortic root in familial hypercholesterolemia

Area of Science:

• Cardiovascular Surgery
• Genetics
• Cardiology

Background:

• Familial hypercholesterolemia (FH) is a genetic disorder causing high cholesterol levels.
• Homozygous FH (HoFH) presents with severe hyperlipidemia and premature cardiovascular disease.
• Aortic valve and root disease are known complications in HoFH patients.

Observation:

• A 39-year-old female patient with diagnosed HoFH presented with chest discomfort.
• Preoperative imaging revealed severe aortic valve stenosis.
• Calcific hypoplastic aortic root was also identified as a significant pathology.

Findings:

• The patient underwent successful aortic root replacement surgery.
• An aortic homograft was utilized for the aortic root reconstruction.
• The surgical intervention addressed the critical aortic pathologies.

Implications:

• This case highlights the importance of early diagnosis and management of cardiovascular complications in HoFH.
• Aortic homografts are a viable option for aortic root replacement in select patients.
• Aggressive management strategies are crucial for improving outcomes in HoFH patients with severe aortic disease.