RESUMO
BACKGROUND: ACAT-related enzyme 2 required for viability 1 (ARV1) encodes a transmembrane lipid transporter of the endoplasmic reticulum, which is presented in all eukaryotes and in plants. Deficiency of ARV1 is clinically presented as autosomal recessive developmental and epileptic encephalopathy 38 (DEE38) in humans and in mice. So far, three different homozygous and two compound heterozygous ARV1 mutations in humans have been reported in 15 children. CASE PRESENTATION: In this case report we present a novel homozygous in-frame ARV1-deletion (c.554_556delTAT, p.L185del) in a 21-year old Caucasian man with developmental delay, intellectual disability, seizures, walking and speech impairments, as well as with a dilated cardiomyopathy (DCM), which has not yet been firmly related to the ARV1-associated phenotype. Interestingly, this novel variant lies in the proximity of the p.G189R mutation, which was previously described in two brothers with DEE38 and dilated cardiomyopathy. CONCLUSION: The finding of dilated cardiomyopathy in the presented as well as in three previously reported patients from two different families indicates that dilated cardiomyopathy is a part of the ARV1-induced DEE38 phenotype. However, more data are needed to make this conclusion definitive.