Surgical Challenges of Familial Hypercholesterolemia

Area of Science:

• Cardiovascular Surgery
• Interventional Cardiology
• Medical Genetics

Background:

• Familial hypercholesterolemia (FH) is a genetic disorder causing high cholesterol and premature cardiovascular disease.
• Coronary revascularization is a common treatment for FH-related coronary artery disease.
• Complications can arise years after revascularization, including graft stenosis and valvular heart disease.

Observation:

• A 21-year-old FH patient presented with angina 9 years post-coronary revascularization.
• The patient had ostial stenosis of the left internal mammary artery (LIMA) and severe calcific aortic stenosis with a small aortic root.
• This dual pathology led to angina and impaired left ventricular function.

Findings:

• Surgical enlargement of the LIMA ostium using a saphenous vein patch improved left ventricular function.
• Successful aortic valve replacement (AVR) with posterior aortic root enlargement was performed.
• The combined surgical approach effectively managed the complex cardiovascular issues.

Implications:

• This case highlights the importance of monitoring FH patients long-term after revascularization.
• Surgical techniques for LIMA ostial stenosis and aortic root reconstruction are crucial.
• Aggressive management can improve outcomes in complex cardiovascular cases in young adults.