title: Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome.
abstract: The dilated cardiomyopathy with ataxia syndrome is a rare autosomal recessive multisystem disorder caused by mutations in DNAJC19. We present a new patient with a novel pathogenic variant in DNAJC19 with novel neuroimaging finding of progressive cerebellar atrophy.
  
  
  
  We describe a new patient with dilated cardiomyopathy with ataxia syndrome presenting with global developmental delay, hypotonia, ataxia, and dilated cardiomyopathy. During follow-up, her cardiac phenotype improved but she exhibited progressive cerebellar atrophy and developed bilateral increased T2 signal intensities in the thalami, parietal lobes, and pons on magnetic resonance imaging. Dilated cardiomyopathy and 3-methylglutaconic aciduria in her urine organic acid analysis also improved.
  
  
  
  This child with dilated cardiomyopathy with ataxia syndrome developed progressive cerebellar atrophy, a novel feature of this syndrome. In individuals with global developmental delay, hypotonia, ataxia, the dilated cardiomyopathy with ataxia syndrome should be considered even in the differential diagnosis in the absence of cardiomyopathy or 3-methylglutaconic aciduria.
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
authors.forename: Amal
authors.initials: A
authors.lastname: Al Teneiji
authors.affiliation: Department of Medical Genetics, University of Alberta, Edmonton, Canada.
authors.forename: Komudi
authors.initials: K
authors.lastname: Siriwardena
authors.affiliation: Division of Cardiology, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
authors.forename: Kristen
authors.initials: K
authors.lastname: George
authors.affiliation: Division of Cardiology, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.
authors.forename: Seema
authors.initials: S
authors.lastname: Mital
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada; Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, Canada. Electronic address: saadet.mahmutoglu@sickkids.ca.
authors.forename: Saadet
authors.initials: S
authors.lastname: Mercimek-Mahmutoglu
mesh_terms: D000293:Adolescent; D002311:Cardiomyopathy, Dilated / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D002524:Cerebellar Ataxia / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D003937:Diagnosis, Differential; D005260:Female; D014644:Genetic Variation; D006720:Homozygote; D006801:Humans; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D010641:Phenotype
chemical_list: C511724:DNAJC19 protein, human; D033681:Mitochondrial Membrane Transport Proteins
keywords: 3-methylglutaconic acid; DNAJC19 gene; ataxia; cerebellar atrophy; dilated cardiomyopathy