title: Apical left ventricular hypertrophy and mid-ventricular obstruction in fabry disease.
abstract: We report the case of a rare cardiac presentation of Fabry disease. Although concentric left ventricular hypertrophy is a major cardiac finding in Fabry disease, there is no case report of dynamic obstruction at mid-left ventricular level. We describe a 59-year-old-woman suffering from a severe form of Fabry disease, mimicking an apical hypertrophic cardiomyopathy with mid-ventricular obstruction. Differentiation of Fabry disease from hypertrophic cardiomyopathy is crucial given the therapeutic and prognostic differences. Fabry disease should always be suspected in an adult, independently of the pattern of left ventricular hypertrophy.
authors: Department of Cardiology, Hospital of the Government of the City of Buenos Aires "Dr. Cosme Argerich", Buenos Aires, Argentina.
authors: Tomás F
authors: TF
authors: Cianciulli
authors: María C
authors: MC
authors: Saccheri
authors: Segundo P
authors: SP
authors: Fernández
authors: Cinthia C
authors: CC
authors: Fernández
authors: Paula A
authors: PA
authors: Rozenfeld
authors: Isaac
authors: I
authors: Kisinovsky
mesh_terms: D017147:Defibrillators, Implantable; D003937:Diagnosis, Differential; D018618:Echocardiography, Doppler, Color; D000795:Fabry Disease / Q000150:complications / Q000000981:diagnostic imaging* / Q000628:therapy; D005260:Female; D006331:Heart Diseases / Q000150:complications / Q000000981:diagnostic imaging / Q000628:therapy; D006352:Heart Ventricles / Q000000981:diagnostic imaging*; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000150:complications / Q000000981:diagnostic imaging* / Q000628:therapy; D008875:Middle Aged
keywords: Fabry disease; apical and mid-left ventricular hypertrophic cardiomyopathy; mid-left ventricular obstruction; transthoracic echocardiography