Four-year imaging follow-up of a homozygous familial hypercholesterolaemia patient: atherosclerosis ingravescence and coronary flow velocity reserve reduced gradually. Case report.
Homozygous familial hypercholesterolemia (HoFH) is a rare heredity disease in which severe cardiovascular atherosclerosis develops from birth due to severe low density lipoprotein-receptor (LDL-R) defects inherited from both heterozygouscarriers of FH (HeFH) parents. This case describes a HoFH patient who underwent medical imaging examination for 4 years over a course of treatment. In addition to the imaging techniques which demonstrated the development of cardiovascular atherosclerosis ingravescent, transthoracic Doppler echocardiography noninvasively and accurately detected the position of atherosclerotic calcifications and evaluated the hemodynamicsof the coronary flow. Analysis showed the patient had a significantly lower coronary flow velocity reserve due to plaques compromising coronary artery ostia.
Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
Bo
B
Jiang
Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University; National clinical research center of cardiovascular disease, Beijing, China. anzhenecho1@163.com.
Ya
Y
Yang
Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases, The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing, China.
Lvya
L
Wang
Beijing AnZhen Hospital, Affiliated to Capital Medical University, Beijing Institute of Heart, Lung and Blood Vessel Diseases, The Key Laboratory of Remodeling-related Cardiovascular Diseases, Ministry of Education, Department of Atherosclerosis, Beijing, China.
Feng
F
Gao
Department of Nuclear Medicine, Beijing An Zhen Hospital, Capital Medical University, Beijing, China.
Jian
J
Jiao
Department of Echocardiography, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
Rongjuan
R
Li
D000293:Adolescent; D050197:Atherosclerosis / Q000175:diagnosis* / Q000209:etiology*; D001783:Blood Flow Velocity; D003324:Coronary Artery Disease / Q000175:diagnosis* / Q000209:etiology*; D003326:Coronary Circulation; D003952:Diagnostic Imaging; D005260:Female; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications* / Q000175:diagnosis*