Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report

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...

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Bibliographic Details
Published in:Journal of medical case reports 2022-02, Vol.16 (1), p.98-98, Article 98
Main Authors: Karabinos, Anton, Hyblova, Michaela, Eckertova, Miroslava, Tomkova, Erika, Schwartzova, Drahomira, Luckanicova, Nikoleta, Magyarova, Gabriela, Minarik, Gabriel
Format: Article
Language:English
Subjects:
Animals
ARV1
Cardiomyopathy, Dilated
Cardiomyopathy, Dilated - genetics
Carrier Proteins - genetics
Case Report
Developmental and epileptic encephalopathy
Dilated cardiomyopathy
Endoplasmic Reticulum - metabolism
Enzymes
Genetic aspects
Genetics
Homozygote
Humans
Male
Membrane Proteins - genetics
Membrane Proteins - metabolism
Mice
Mutation
Phenotype
Seizures
Seizures (Medicine)
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Summary: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. 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. 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.
ISSN:1752-1947
1752-1947
DOI:10.1186/s13256-022-03291-0