A Case of Congenital Lipoid Adrenal Hyperplasia Associated with Dilated Cardiomyopathy

抄録

We describe an infant with congenital lipoid adrenal hyperplasia complicated by dilated cardiomyopathy. The diagnosis of congenital lipoid adrenal hyperplasia was defined by steroidogenic acute regulatory protein gene analysis. The patient was a compound heterozygote with the Gln 258 Stop mutation in exon 7 and the Ala 218 Val mutation in exon 6, both of which are commonly found mutations in Japanese patients. The cardiomyopathy resolved after replacement therapy with glucocorticoid and mineralocorticoid. We speculate that an extremely high level of plasma ACTH might play a role in the pathogenesis of the dilated cardiomyopathy of this patient.