Mitochondriopathy: a rare aetiology of restrictive cardiomyopathy.
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.
Thebault
Christophe
C
Department of Cardiology, University Hospital Pontchaillou, 35033 Rennes, France.
Ollivier
Romain
R
Leurent
Guillaume
G
Marcorelles
Pascale
P
Langella
Bernard
B
Donal
Erwan
E
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