A Case of Premature Triple Vessel Coronary Artery Disease and Valvular Degeneration: A Rare Presentation of Familial Hypercholesterolemia

Abstract

Familial hypercholesterolemia (FH) is one of the inherited causes of coronary artery disease (CAD) and causes calcific valvular degeneration in rare cases. A 13-year-old boy with multiple xanthomas presented with severe chest pain, shortness of breath, and sweating. He was diagnosed with premature CAD leading to non-ST-elevation myocardial infarction, secondary to early-onset FH [severely raised low-density lipoprotein (LDL) and triglycerides (TG) on lipid profile]. CT angiogram showed triple vessel disease, and echocardiogram revealed tight aortic stenosis. Percutaneous coronary angioplasty was done, and valvuloplasty was planned on the follow-up assessment. Early diagnosis and prompt management could have prevented these complications.