Surgical treatment of valvular and supravalvular aortic stenosis in homozygous familial hypercholesterolemia

Abstract

A 61-year-old male with homozygous familial hypercholesterolemia presented with dyspnea and syncope. He had been treated with low-density lipoprotein apheresis for 26 years. Echocardiography and computed tomography showed severe valvular and supravalvular aortic stenosis. Computed tomography and cardiac catheterization revealed a severely calcified narrowed aortic root and an occlusion in the proximal right coronary artery. During surgery, the ascending aorta was replaced under deep hypothermic circulatory arrest without aortic cross-clamping. After that, the aortic root from the annulus to the sino-tubular junction was enlarged with a two-ply bovine pericardial patch. An aortic valve replacement with a 17 mm mechanical valve and coronary artery bypass grafting to the right coronary artery were performed. The patient recovered from the surgery without any cerebrovascular complications.

Keywords: Aortic valve stenosis; Homozygous familial hypercholesterolemia; Supravalvular aortic stenosis.

Fig. 1

Computed tomography images showing severely calcified aortic root. A calcified plate at the STJ (arrow heads) made supravalvular aortic stenosis. a Long axis view, b Short axis view. LAD left anterior descending coronary artery, LCX left circumflex coronary artery, RCA right coronary artery

Fig. 2

Operative findings. a A calcified plate protruded at the STJ, which narrowed the aorta to 17 mm at the STJ level (arrow). The aortic valve was severely calcified. b Aortic root was enlarged by sewing a bovine pericardial patch from the annulus to the STJ. RCC right coronary cusp, LCC left coronary cusp, NCC non-coronary cusp. AML anterior leaflet of the mitral valve

Fig. 3

Post-operative 3D-CT image on the posterior view demonstrating well-enlarged aortic root, patent saphenous vein graft (SVG) and the ascending aorta replaced with a graft