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.