[Myocardiopathy with lipid overload and leukocyte palmityl carnitine transferase (PCT) deficiency].
Histological changes of the skeletal muscle with moderate fatty infiltration and varied abnormalities of the muscle fibres and conjunctivo-vascular tissue were demonstrated in three adult patients with apparently primary cardiomyopathy with dilatation. Leukocyte PCT activity was decreased and plasma carnitine was increased. In two cases, postmortem cardiac biopsy showed a massive accumulation of lipids and an intense progressive fibrosis dissociating the atrial and ventricular cardiac fibres. A disturbance of lipid metabolism could be the cause of this cardiac and skeletal muscle disease, but the reduced PCT activity could be a sign of more diffuse myocardial disease as suggested by the fibrous lesions and vascular abnormalities observed in our cases. These cases emphasise the value of routine investigation of PCT activity in primary cardiomyopathy and of ultrastructural studies of skeletal muscle, even in the absence of clinical involvement, which may show relatively severe changes reflecting the state of the myocardium.
D000217:Acyltransferases / Q000097:blood*; D000328:Adult; D009202:Cardiomyopathies / Q000378:metabolism* / Q000473:pathology; D002331:Carnitine / Q000097:blood; D002334:Carnitine O-Palmitoyltransferase / Q000097:blood* / Q000172:deficiency; D006801:Humans; D007962:Leukocytes / Q000201:enzymology*; D050356:Lipid Metabolism; D008297:Male; D009132:Muscles / Q000201:enzymology / Q000648:ultrastructure; D009206:Myocardium / Q000201:enzymology / Q000648:ultrastructure
D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine
Myocardiopathie avec surcharge lipidique et déficit en palmityl carnitine transférase (PCT) leucocytaire.