Supravalvular and valvular aortic stenosis in heterozygous familial hypercholesterolemia

To report calcified aortic stenosis due to hypercholesterolemia in two siblings.

A 13-year-old boy with a history of dyspnea on exertion and a systolic murmur of aortic stenosis was referred to our center. Echocardiography showed combined valvular and supravalvular aortic stenoses with a good left ventricle systolic function and severe left ventricular hypertrophy. Two years later his 17-year-old sister was referred to the clinic with similar symptoms. Severe valvular aortic stenosis was detected by echocardiography. Selective coronary angiography showed significant involvement. The father had a history of hypercholesterolemia and confirmed coronary artery disease involving 3 vessels. Angiography showed anterioapical and inferiobasal hypokinesis with preserved left ventricle systolic function. The mother and the other two siblings did not have hyperlipidemia, thereby indicating heterozygous familial hypercholesterolemia in the two affected siblings. The siblings were managed with atrovastatin and nicotinic acid and cholestyramine was added stepwise. The father was treated with lovostatin.

This report shows that severe hyperlipidemia in very young patients may be a risk factor for valvulopathy.