Four-year imaging follow-up of a homozygous familial hypercholesterolaemia patient: atherosclerosis ingravescence and coronary flow velocity reserve reduced gradually. Case report

Abstract

Homozygous familial hypercholesterolemia (HoFH) is a rare heredity disease in which severe cardiovascular atheroscle- rosis develops from birth due to severe low density lipoprotein-receptor (LDL-R) defects inherited from both heterozygous- carriers 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 signifi- cantly lower coronary flow velocity reserve due to plaques compromising coronary artery ostia.