Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

  • Pranoot Tanpaiboon
  • Jennifer L. Sloan
  • Patrick F. Callahan
  • Dorothea McAreavey
  • P. Suzanne Hart
  • Uta Lichter-Konecki
  • Dina Zand
  • Charles P. VendittiEmail author
Case Report
Part of the JIMD Reports book series (JIMD, volume 10)


Cobalamin C disease (cblC), a form of combined methylmalonic acidemia and hyperhomocysteinemia caused by mutations in the MMACHC gene, may be the most common inborn error of intracellular cobalamin metabolism. The clinical manifestations of cblC disease are diverse and range from intrauterine growth retardation to adult onset neurological disease. The occurrence of structural heart defects appears to be increased in cblC patients and may be related to the function of the MMACHC enzyme during cardiac embryogenesis, a concept supported by the observation that Mmachc is expressed in the bulbis cordis of the developing mouse heart. Here we report an infant who presented with hydrops fetalis, ventricular dysfunction, and echocardiographic evidence of LVNC, a rare congenital cardiomyopathy. Metabolic evaluations, complementation studies, and mutation analysis confirmed the diagnosis of cblC disease. These findings highlight an intrauterine cardiac phenotype that can be displayed in cblC disease in association with nonimmune hydrops.


Fabry Disease Pompe Disease Nuchal Translucency Methylmalonic Acidemia Velocardiofacial Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Pranoot Tanpaiboon
    • 1
  • Jennifer L. Sloan
    • 2
  • Patrick F. Callahan
    • 3
  • Dorothea McAreavey
    • 4
  • P. Suzanne Hart
    • 5
  • Uta Lichter-Konecki
    • 1
  • Dina Zand
    • 1
  • Charles P. Venditti
    • 2
    Email author
  1. 1.Division of Genetics and MetabolismChildren’s National Medical CenterWashington, DCUSA
  2. 2.Organic Acid Research Section, Genetics and Molecular Biology BranchNational Human Genome Research Institute, National Institutes of HealthBethesdaUSA
  3. 3.Child Cardiology AssociatesFairfaxUSA
  4. 4.Critical Care Medicine DepartmentNational Institutes of Health (NIH)BethesdaUSA
  5. 5.Office of the Clinical Director, Medical Genetics BranchNational Human Genome Research Institute (NHGRI), National Institutes of Health (NIH)BethesdaUSA

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