title: Gaucher's disease with mitral and aortic involvement: echocardiographic findings.
abstract: Cardiac involvement in Gaucher's disease has been reported in only a few patients, mostly adults with pericardial changes. We describe findings in two siblings with Gaucher's disease, aged 15 and 9 years respectively, in whom mitral and aortic valve lesions were evaluated by auscultation and echocardiography. In both cases the mitral and aortic valves were thick and restricted in motion. Continuous Doppler echocardiography revealed significant mitral regurgitation and mitral stenosis. At the aortic valve level there was a systolic pressure gradient. Echocardiographic investigation of patients with suspected cardiac involvement with Gaucher's disease is recommended.
authors.affiliation: Department of Pediatric Cardiology, Hacettepe University, Ankara, Turkey.
authors.forename: M
authors.initials: M
authors.lastname: Saraçlar
authors.forename: S
authors.initials: S
authors.lastname: Atalay
authors.forename: N
authors.initials: N
authors.lastname: Koçak
authors.forename: S
authors.initials: S
authors.lastname: Ozkutlu
mesh_terms: D000293:Adolescent; D001022:Aortic Valve Insufficiency / Q000000981:diagnostic imaging* / Q000209:etiology / Q000235:genetics; D002648:Child; D004452:Echocardiography; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D008297:Male; D008944:Mitral Valve Insufficiency / Q000000981:diagnostic imaging* / Q000209:etiology / Q000235:genetics