Supravalvular aortic stenosis and coronary ostial stenosis in familial hypercholesterolemia: two-dimensional echocardiographic assessment.

Abstract

SUMMARY The lesions of the aortic root, which are supravalvular aortic stenosis and coronary ostial stenosis, in familial hypercholesterolemia were studied using two-dimensional echocardiography. The subjects were 25 heterozygotes, six homozygotes and 30 control subjects.The internal diameters of the aortic ring, the sinus of Valsalva and the supravalvular aortic ring were measured. Measurement variation due to body size was avoided by normalizing the latter two values by the diameter of the aortic ring. Four heterozygotes and all homozygotes were judged to have stenosis of the supravalvular aortic ring; none of heterozygotes and four homozygotes had stenosis of the sinus of Valsalva. In three of the four patients with stenosis of both the supravalvular aortic ring and the sinus of Valsalva, a pressure gradient was demonstrated. The degree of supravalvular aortic stenosis correlated with the serum cholesterol level but not with patient age. All homozygotes, even very young ones, had a severe aortic root lesion. In the short-axis view of the aortic root, a lump (raised mass) on the aortic wall indicating atheromatous plaquing was demonstrated in five heterozygotes and all homozygotes. Coronary ostial stenosis was shown in three of the four patients whose plaquing echoes were adjacent to the coronary orifice.We conclude that two-dimensional echocardiography is useful in diagnosing lesions of the aortic root in patients with hypercholesterolemia.

Characteristic cardiovascular manifestation in homozygous and heterozygous familial hypercholesterolemia

“…The appearance of supravalvular stenosis and its relation to severely high cholesterol levels has been documented in both homozygous and heterozygous FH patients by two-dimensional echocardiography (14,35). The present study disclosed that the heterozygous FH patients also tended to have reduced lumen diameters of the supravalvular aortic ridge, although the range of the aortic annulus was equivalent to that of the control subjects.…”

“…Valvular and supravalvular aortic stenoses have been observed in homozygous FH patients (7)(8)(9)(10)(11)(12)(13)(14) based on pathological observations. However, little is known about the evolution of the premature atherosclerosis in the vicinity of the aortic root.…”

Supravalvular and valvular aortic stenosis in homozygous familial hypercholesterolemia.

“…Nevertheless, echocardiography (M-mode and two-dimensional) may prove to be useful in most of the cases, demonstrating the thickening and narrowing of the aortic root and distortion of the aortic valve movement,11),12),14), 19) as observed in our case.…”

"Steam iron" appearance of chronic thoracic aortic dissection on angiography

“…Table 5 shows the correlations between maximum transaortic velocity, peak gradient, and mean gradient across the aortic valve with age and serum lipids. Multiple regression analysis was applied to assess the independence of association between mean aortic gradient and the variables in table 5. In a stepwise regression model with mean gradient as dependent variable, only CYS ( = 0.042, p = 0.0001) and age ( = −0.47, p = 0.002) were significant determinants of the mean gradient, accounting for 40% and 9% of its variation respectively.…”

“…Previous reports of aortic valve and root involvement in homozygous FH were based on cardiac catheterisation and cross sectional echocardiography. [3][4][5] Aortography shows characteristic aortic root funnelling when the proximal ascending aorta is infiltrated by atheroma. The gradient across the aortic valve indicates the severity of its involvement, but the invasive nature of catheterisation restricts the use of this diagnostic procedure to symptomatic patients or those with clinical evidence of severe aortic stenosis.…”