Objective Homozygous familial hypercholesterolaemia (HoFH) is a rare disorder characterised by the early onset of atherosclerosis and usually occurrs 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 CT (DSCT).
Method 20 HoFH patients (12 females, 8 males, mean age 13.1±5.3 years, with a mean low density lipoprotein (LDL) cholesterol 583±113 mg/dl) was studied as experimental group and fifteen patients (8 females, 7 males, mean age 15.2±6.9 years, with a mean low density lipoprotein (LDL) cholesterol 128±71 mg/dl) as control group by TTDE and DSCT.
Result None of the patients showed evidence of ischaemia with standard exercise testing. Though the baseline coronary flow was similar between HoFH patients and normal controls, the hyperaemic flow velocities and thus the coronary flow velocity reserve (CFVR) were significantly lower in those with HoFH (3.36 vs 1.92 respectively, p<0.0001). All HoFH patients had aortic plaques, amongst which nine of them occurred at the coronary artery ostia, who had significantly higher LDL-cholesterol and lower CFVR than those without ostia plaques.
Conclusion Our data demonstrated that TTDE together with DSCT could be a useful non-invasive method for detection of coronary flow dynamics and atherosclerosis specifically in HoFH subjects with coronary ostia involved.
- Homozygous familial hypercholesterolaemia (HoFH)
- transthoracic Doppler echocardiography (TTDE)
- dual-source CT (DSCT)
- low density lipoprotein (LDL)
- coronary flow velocity reserve (CFVR)