title: Cardiovascular findings in familial hypercholesterolemic children.
abstract: Four child patients (1 male and 3 females) with homozygous familial hypercholesterolemia (FH) were examined. They were 4y4m to 9y8m of age on admission. A female patient at age 5y7m on admission had already experienced anginal attacks. Ischemic change was found on exercise ECG in 2 patients. Grade 1/6 to 3/6 (Levine) systolic ejection type murmur was audible in all patients. Cardiac catheterization was carried out in all patients. Supravalvular aortic stenosis was found and so-called atherosclerotic wall thickening was also noticed in 3 of them. Narrowing of the coronary arteries was found in only 1 patient who complained of anginal pain. Supravalvular aortic stenosis was more prevalent than coronary artery disorders in FH children and this lesion was also detected by echocardiography. Therefore, follow-up by echocardiography seems to be very useful in assessing the progression of atherosclerosis in patients with severe hypercholesterolemia.
authors.affiliation: Department of Pediatrics, National Cardiovascular Center, Kanagawa, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Horiguchi
authors.forename: A
authors.initials: A
authors.lastname: Yamamoto
authors.forename: T
authors.initials: T
authors.lastname: Kamiya
authors.forename: Y
authors.initials: Y
authors.lastname: Arakaki
authors.forename: K
authors.initials: K
authors.lastname: Yazawa
authors.forename: T
authors.initials: T
authors.lastname: Fujita
mesh_terms: D001024:Aortic Valve Stenosis / Q000000981:diagnostic imaging / Q000209:etiology*; D001027:Aortography; D001161:Arteriosclerosis / Q000175:diagnosis / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D003324:Coronary Artery Disease / Q000209:etiology; D004452:Echocardiography; D005260:Female; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications* / Q000235:genetics; D008297:Male