title: Extensive vascular and valvular involvement in Gaucher disease.
abstract: A 17-year-old patient with type III Gaucher disease was hospitalized for recurrent syncope. Echocardiography showed calcified aortic and mitral stenosis. Three-dimensional computed tomography showed severely calcified plaques on the ascending aorta, arcus, and abdominal aorta. On follow-up, palpitations and syncope were triggered by emotional stress, followed by severe bradycardia that was resulted in cardiogenic shock; the patient died after 8 h despite all efforts. Gaucher disease should be kept in mind in the differential diagnosis of a young patient with extensive vascular and valvular calcification. Patients with symptomatic severe valvular disease must be referred for early surgery.
authors.affiliation: Department of Cardiology, Gaziantep University, School of Medicine, Gaziantep, Turkey.
authors.forename: Gokhan
authors.initials: G
authors.lastname: Altunbas
authors.affiliation: Department of Cardiology, Kilis State Hospital, Kilis, Turkey sleymanercan@yahoo.com.
authors.forename: Suleyman
authors.initials: S
authors.lastname: Ercan
authors.affiliation: Department of Cardiology, Kilis State Hospital, Kilis, Turkey.
authors.forename: Ibrahim Halil
authors.initials: IH
authors.lastname: Inanç
authors.affiliation: Department of Cardiology, Kilis State Hospital, Kilis, Turkey.
authors.forename: Orhan
authors.initials: O
authors.lastname: Ozer
authors.affiliation: Department of Radiology, Gaziantep University, School of Medicine, Gaziantep, Turkey.
authors.forename: Selim
authors.initials: S
authors.lastname: Kervancıoğlu
authors.affiliation: Department of Cardiology, Kilis State Hospital, Kilis, Turkey.
authors.forename: Vedat
authors.initials: V
authors.lastname: Davutoğlu
mesh_terms: D000293:Adolescent; D001011:Aorta / Q000473:pathology*; D001024:Aortic Valve Stenosis / Q000000981:diagnostic imaging / Q000209:etiology*; D001919:Bradycardia / Q000150:complications / Q000209:etiology; D002114:Calcinosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000209:etiology; D004452:Echocardiography; D005776:Gaucher Disease / Q000150:complications*; D006801:Humans; D008297:Male; D008946:Mitral Valve Stenosis / Q000000981:diagnostic imaging / Q000209:etiology*; D012770:Shock, Cardiogenic / Q000209:etiology / Q000401:mortality*; D014057:Tomography, X-Ray Computed
keywords: Aortic valve stenosis; calcinosis; fatal outcome; gaucher disease; mitral valve stenosis