“EARLIER THE BETTER” SUPRAVALVULAR AORTIC STENOSIS IN FAMILIAL HYPERCHOLESTEROLEMIA

Familial Hypercholesterolemia is a monogenic disorder caused by mutation in LDL receptor gene or gain of function mutation in PCSK9 (coded by NARC1 gene) or mutation of apoB gene. This may result in early coronary atherosclerosis and sudden cardiac death. It is uncommon for premature malignant atherogenesis to result in aortic root abnormalities causing supravalvular aortic stenosis. Our case demonstrates the phenotypic presentation of familial hypercholesterolemia typeIIb with tendon xanthoma with radiological evidence. This case highlights the fact that early diagnosis and meticulous differential diagnosis workup is essential for a favorable outcome and stressing the importance of cascading family members.