Surgical Management and Outcomes of Homozygous Familial Hypercholesterolemia in Two Cousins: A Rare Case Report

摘要

Homozygous familial hypercholesterolemia (HoFH) is a rare life-threatening condition characterized by high levels of low-density lipoprotein (LDL) cholesterol in the blood, which increases a person’s risk of developing early atherosclerotic cardiovascular disease (ASCVD). In this report, we present two cases of related patients with aortic stenosis and mitral regurgitation as complications of HoFH. We also discuss the surgical interventions they underwent and their outcomes. The two related patients with HoFH were admitted to our hospital with signs and symptoms of heart failure. Physical examination revealed an ejection systolic murmur over the aortic valve. Echocardiography?revealed valvular disease, and coronary angiography revealed coronary artery disease (CAD). They had undergone the Bentall procedure, mitral valve replacement, and coronary artery bypass graft?(CABG) surgery. We elaborate on the progressive course of HoFH, the possible complications associated with this condition, treatment options, and?prognosis for the disease. HoFH is very rare and associated with many cardiovascular complications that can be fatal. The medical treatment of HoFH is rarely sufficient to manage the disease, and surgical interventions are eventually required. The outcomes of surgical treatment are generally good and acceptable.