Value of radionuclide assessment with thallium 201 scintigraphy in carnitine deficiency cardiomyopathy.
The case of a 30 month-old boy who presented with isolated severe dilated cardiomyopathy is reported. The diagnosis of systemic carnitine deficiency was confirmed by low serum and tissue carnitine levels. During oral L-carnitine therapy, dramatic improvement of the cardiac function was assessed by radionuclide methods. Myocardial thallium 201 uptake was closely correlated with cardiac function studied by angioscintigraphy. These methods are simple, easily reproducible, non-invasive and involve little radiation. In a case of cardiomyopathy, we suggest an immediate trial of oral carnitine treatment; the efficacy of the therapy can be confirmed by isotopic tests with thallium 201 scintigraphy.
D002311:Cardiomyopathy, Dilated / Q000000981:diagnostic imaging* / Q000209:etiology / Q000503:physiopathology; D002331:Carnitine / Q000172:deficiency*; D002675:Child, Preschool; D004452:Echocardiography; D006801:Humans; D008297:Male; D011379:Prognosis; D011877:Radionuclide Imaging; D013794:Thallium Radioisotopes
D013794:Thallium Radioisotopes; D002331:Carnitine