Homozygous familial hypercholesterolemia (HoFH) is a rare disorder characterized by the early onset of atherosclerosis and usually occurs at the ostia of coronary arteries. In this study, we used transthoracic Doppler echocardiography (TTDE) to evaluate the dynamic changes of coronary flow in HoFH patients and to detect aortic and coronary atherosclerosis by dual-source computed tomography (DSCT). We studied 20 HoFH patients (12 females, 8 males, mean age 13.1 ± 5.3 years, with a mean low density lipoprotein (LDL) cholesterol of 583 ± 113 mg/dL) and 15 control patients (8 females, 7 males, mean age 15.2 ± 6.9 years, with a mean LDL cholesterol 128 ± 71 mg/dL) using TTDE and DSCT. None of the patients showed evidence of ischemia with standard exercise testing. Though the baseline coronary flow was similar between HoFH patients and normal controls, the hyperemic flow velocities and, thus, the coronary flow velocity reserve (CFVR) were significantly lower in those with HoFH. All HoFH patients had aortic plaques, nine of them with the coronary artery ostia simultaneously, who had significantly higher LDL-cholesterol and lower CFVR than those without ostia plaques. Our data demonstrated that TTDE together with DSCT could be a useful noninvasive method for detection of coronary flow dynamics and atherosclerosis specifically in HoFH subjects with coronary ostia.
Copyright © 2010 World Federation for Ultrasound in Medicine & Biology. Published by Elsevier Inc. All rights reserved.