Unusual Cause of Severe Aortic Stenosis: Familial Hyperchole
The main etiology of aortic stenosis in Africa is rheumatic fever in middle-age adults. We report the case of an aortic stenosis probably due to familial dyslipidemia. A patient of 24 years, male, was referred by his dermatologist for investigation of exertional dyspnea. Physical examination revealed regular heart sounds with a systolic murmur 4/6 at the aortic valve area and abolition of B2. There was no sign of heart failure. Lipid dosage showed high LDL and total cholesterol levels, 5.42 g/L and 6.23 g/L respectively. Triglyceride and HDL cholesterol levels were normal: 0.70 g/L and 0.62 g/L. Echocardiography found severe aortic stenosis with an aortic valve area of 0.6 cm2; a mean gradient of 68 mmHg and a maximum aortic jet velocity of 5.32 m/s. Coronary angiogram showed slight atheroma but angiographically normal coronary arteries. Dermatological examination showed tuberous xanthomas in pressure areas such as the elbows, knees, and buttocks. Ophthalmologic examination found corneal arcus in both eyes. The patient’s current treatment associated a lipid-lowering diet, statin and diuretics. Although rheumatic heart disease is common in middle-aged adults, aortic stenosis of “atherosclerotic” origin is possible.

Aortic stenosis; Hypercholesterolemia; Etiology

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease that leads to the increase of low density lipoprotein (LDL) cholesterol [1]. It comes in two forms of different severity. The FH heterozygous affects 1/200 to 1/500 subjects. The homozygous form, more severe, affects one in a million [2]....