IS CD36 DEFICIENCY AN ETIOLOGY OF HEREDITARY HYPERTROPHIC CARDIOMYOPATHY

Hereditary hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease, but the genetic defects are still unclear in many cases. Redu ced myocardial long-chain fatty acid (LCFA) uptake has been demonstrat ed in patients with some types of HCM. In addition, a possible relatio nship between a shift of myocardial substrate utilization and cardiac hypertrophy has been suggested by experimental studies. Myocardial upt ake of LCFAs occurs via a specific transporter, which is homologous wi th human CD36, CD36 deficiency has also been reported in some individu als, and is transmitted as an autosomal dominant trait like HCM.In thi s study, we analyzed CD36 in 47 patients with HCM [29 with asymmetric septal hypertrophy (ASH) and 18 without ASH], 11 patients with dilated cardiomyopathy (DCM), and 26 patients with pressure-overload cardiac hypertrophy. Eleven patients (37.9%) who had HCM with ASH, one (9.1%) with DCM, and two (7.7%) with pressure-overload hypertrophy showed CD3 6 deficiency, while none of the HCM patients without ASH had CD36 defi ciency. One patient who had HCM with ASH and CD36 deficiency showed no myocardial LCFA uptake, although myocardial perfusion was normal. Red uced myocardial LCFA uptake despite normal myocardial perfusion was de monstrated in the other HCM patients with ASH and CD36 deficiency. Bas ed on the high prevalence of CD36 deficiency in HCM patients with ASH, we hypothesize that this deficiency might be one etiology of heredita ry HCM. (C) 1997 Academic Press Limited.