title: Mitochondriopathy: a rare aetiology of restrictive cardiomyopathy.
abstract: When diagnosing a restrictive hypertrophied cardiomyopathy, most echocardiographists consider cardiac amyloidosis as a possible cause, especially after the appearance of 'granular' sparkling echoes on a transthoracic echocardiography. However, other infiltrative diseases (i.e. metabolic myopathies, Gaucher, Hunter's, and Hurler's diseases) or storage cardiomyopathies (haemochromatosis, Fabry's disease, glycogen storage, and Niemann-Pick disease) should be considered. In this paper, we report on another unusual cause of restrictive cardiomyopathy of which all cardiologists should be aware.
authors.affiliation: Department of Cardiology, University Hospital Pontchaillou, 35033 Rennes, France.
authors.forename: Christophe
authors.initials: C
authors.lastname: Thebault
authors.forename: Romain
authors.initials: R
authors.lastname: Ollivier
authors.forename: Guillaume
authors.initials: G
authors.lastname: Leurent
authors.forename: Pascale
authors.initials: P
authors.lastname: Marcorelles
authors.forename: Bernard
authors.initials: B
authors.lastname: Langella
authors.forename: Erwan
authors.initials: E
authors.lastname: Donal
mesh_terms: D002313:Cardiomyopathy, Restrictive / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D003920:Diabetes Mellitus / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006333:Heart Failure / Q000209:etiology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000000981:diagnostic imaging; D008875:Middle Aged; D008929:Mitochondria, Heart / Q000473:pathology / Q000648:ultrastructure; D028361:Mitochondrial Diseases / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D017354:Point Mutation; D014463:Ultrasonography