Key result
Medium-chain-acyl-CoA dehydrogenase deficiency (MCADD) was identified as a novel cause of dilated cardiomyopathy in an infant.
Case Report (n=1)
This case report presents the first known association of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) with dilated cardiomyopathy in an infant.
May warrant MCADD evaluation in unexplained infantile dilated cardiomyopathy; leaves open causality pending larger studies.
We report about an infant affected by dilated cardiomyopathy (CMP) in whom metabolic investigations evidenced medium-chain-acyl-CoA dehydrogenase deficiency (MCADD), that is one of three types of inherited disorders of mitochondrial fatty-acid beta-oxidation. Long-chain and very long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficits are recognized as responsible of hypertrophic or, less frequently, dilated cardiomyopathy (CMP) in childhood. Otherwise, to our knowledge, no case of MCADD associated to dilated CMP has been reported in literature.
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Marcì et al. (2009) conducted a case report in Dilated cardiomyopathy and medium-chain-acyl-CoA dehydrogenase deficiency (MCADD) (n=1). Medium-chain-acyl-CoA dehydrogenase deficiency (MCADD) was evaluated on Clinical presentation. Medium-chain-acyl-CoA dehydrogenase deficiency (MCADD) was identified as a novel cause of dilated cardiomyopathy in an infant.
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