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

Overview

Journal JIMD Rep

Publisher Wiley

Date 2013 Feb 23

PMID 23430797

Citations 12

Authors

Pranoot Tanpaiboon

Jennifer L Sloan

Patrick F Callahan

Dorothea McAreavey

P Suzanne Hart

Uta Lichter-Konecki

Dina Zand

Charles P Venditti

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

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References

Xing Y, Ichida F, Matsuoka T, Isobe T, Ikemoto Y, Higaki T . Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. Mol Genet Metab. 2006; 88(1):71-7. DOI: 10.1016/j.ymgme.2005.11.009. View

Stollberger C, Finsterer J, Valentin A, Blazek G, Tscholakoff D . Isolated left ventricular abnormal trabeculation in adults is associated with neuromuscular disorders. Clin Cardiol. 1999; 22(2):119-23. PMC: 6655289. DOI: 10.1002/clc.4960220212. View

Profitlich L, Kirmse B, Wasserstein M, Diaz G, Srivastava S . High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. Mol Genet Metab. 2009; 98(4):344-8. DOI: 10.1016/j.ymgme.2009.07.017. View

Mc Guire P, Parikh A, Diaz G . Profiling of oxidative stress in patients with inborn errors of metabolism. Mol Genet Metab. 2009; 98(1-2):173-80. PMC: 2915835. DOI: 10.1016/j.ymgme.2009.06.007. View

Longo D, Fariello G, Dionisi-Vici C, Cannata V, Boenzi S, Genovese E . MRI and 1H-MRS findings in early-onset cobalamin C/D defect. Neuropediatrics. 2006; 36(6):366-72. DOI: 10.1055/s-2005-873057. View

Carmel R, Bedros A, Mace J, Goodman S . Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test. Blood. 1980; 55(4):570-9. View

Finsterer J, Stollberger C, Blazek G . Neuromuscular implications in left ventricular hypertrabeculation/noncompaction. Int J Cardiol. 2005; 110(3):288-300. DOI: 10.1016/j.ijcard.2005.10.028. View

Sellars E, Zimmerman S, Smolarek T, Hopkin R . Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: an association with Hunter-McAlpine syndrome?. Am J Med Genet A. 2011; 155A(6):1409-13. DOI: 10.1002/ajmg.a.33997. View

Plesa M, Kim J, Paquette S, Gagnon H, Ng-Thow-Hing C, Gibbs B . Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B₁₂ metabolism. Mol Genet Metab. 2010; 102(2):139-48. DOI: 10.1016/j.ymgme.2010.10.011. View

10.

Pagliarini D, Calvo S, Chang B, Sheth S, Vafai S, Ong S . A mitochondrial protein compendium elucidates complex I disease biology. Cell. 2008; 134(1):112-23. PMC: 2778844. DOI: 10.1016/j.cell.2008.06.016. View

11.

Lerner-Ellis J, Tirone J, Pawelek P, Dore C, Atkinson J, Watkins D . Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet. 2005; 38(1):93-100. DOI: 10.1038/ng1683. View

12.

Brandstetter Y, Weinhouse E, Splaingard M, Tang T . Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type). Am J Med Genet. 1990; 36(2):167-71. DOI: 10.1002/ajmg.1320360208. View

13.

McMahon C, Chang A, Pignatelli R, Miller-Hance W, Eble B, Towbin J . Left ventricular noncompaction cardiomyopathy in association with trisomy 13. Pediatr Cardiol. 2004; 26(4):477-9. DOI: 10.1007/s00246-004-0788-0. View

14.

Richards A, Mao C, Dobson N . Left ventricular noncompaction: a rare cause of hydrops fetalis. Pediatr Cardiol. 2009; 30(7):985-8. DOI: 10.1007/s00246-009-9465-7. View

15.

Rosenblatt D, Aspler A, Shevell M, Pletcher B, Fenton W, Seashore M . Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J Inherit Metab Dis. 1997; 20(4):528-38. DOI: 10.1023/a:1005353530303. View

16.

Tang S, Batra A, Zhang Y, Ebenroth E, Huang T . Left ventricular noncompaction is associated with mutations in the mitochondrial genome. Mitochondrion. 2010; 10(4):350-7. DOI: 10.1016/j.mito.2010.02.003. View

17.

Andersson H, Marble M, Shapira E . Long-term outcome in treated combined methylmalonic acidemia and homocystinemia. Genet Med. 2001; 1(4):146-50. DOI: 10.1097/00125817-199905000-00006. View

18.

Bleyl S, Mumford B, Thompson V, Carey J, Pysher T, Chin T . Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet. 1997; 61(4):868-72. PMC: 1715997. DOI: 10.1086/514879. View

19.

Sasse-Klaassen S, Probst S, Gerull B, Oechslin E, Nurnberg P, Heuser A . Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15. Circulation. 2004; 109(22):2720-3. DOI: 10.1161/01.CIR.0000131865.21260.56. View

20.

Chin T, PERLOFF J, Williams R, Jue K, Mohrmann R . Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation. 1990; 82(2):507-13. DOI: 10.1161/01.cir.82.2.507. View