Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease

JIMD Reports

Volumn 10, Issue , 2013, Pages 33-38

  Tanpaiboon, Pranoot ^a   Sloan, Jennifer L ^b   Callahan, Patrick F ^c   McAreavey, Dorothea ^d   Hart, P Suzanne ^b   Lichter Konecki, Uta ^a   Zand, Dina ^a   Venditti, Charles P ^b  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c Child Cardiology Associates   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Fabry disease; Methylmalonic acidemia; Nuchal translucency; Pompe disease; Velocardiofacial syndrome

Indexed keywords

EID: 84899496991     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2012_197     Document Type: Chapter

References (44)

1. Andersson HC, Marble M, Shapira E (1999) Long term outcome in treated combined methylmalonic academia and homocystinemia. Genet Med 1(4):146–150
2. Baumgartner ER, Wick H, Maurer R et al (1979) Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria I Case report and histopathology. Helv Paediatr Acta 34(5):465–482
3. Beken S, Cevik A, Turan O et al (2011) A neonatal case of left ventricular noncompaction associated with trisomy 18. Genet Couns 22(2):161–164
4. Bleyl SB, Mumford BR, Thompson V et al (1997) Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet 61(4):868–872
5. Blinder JJ, Martinez HR, Craigen WJ et al (2011) Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion. Am J Med Genet A 155A(9): 2215–2220
6. Brandstetter Y, Weinhouse E, Splaingard ML, Tang TT (1990) Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type). Am J Med Genet 36(2):167–171
7. Carmel R, Bedros AA, Mace JW, Goodman SI (1980) 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 55(4):570–579
8. Carrillo-Carrasco N, Sloan J, Manoli I et al (2011) A detailed phenotype and long-term outcome of early onset cblC disease. Mol Genet Metab 102(3):246–247
9. Chang B, Nishizawa T et al (2011) Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death. Mol Genet Metab 102(2):200–206
10. Chenel C, Wood C, Gourrier E et al (1993) Neonatal hemolytic-uremic syndrome, methylmalonic aciduria and homocystinuria caused by intracellular vitamin B 12 deficiency Value of etiological diagnosis. Arch Fr Pediatr 50(9):749–754
11. Chin TK, Perloff JK, Williams RG et al (1990) Isolated noncompaction of left ventricular myocardium A study of eight cases. Circulation 82(2):507–513
12. De Bie I, Nizard SD, Mitchell GA (2009) Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, Cbl-C type. Prenat Diagn 29(3): 266–270
13. Finsterer J, Stollberger C, Michaela J (2002) Familial left ventricular hypertrabeculation in two blind brothers. Cardiovasc Pathol 11(3):146–148
14. Finsterer J, Stöllberger C, Schubert B (2004) Acquired left ventricular hypertrabeculation/Noncompaction in mitochondriopathy. Cardiology 10 (4) 2:228–230
15. Finsterer J, Stöllberger C, Blazek G (2006) Neuromuscular implications in left ventricular hypertrabeculation/noncompaction. Int J Cardiol 110(3):288–300
16. Geraghty MT, Perlman EJ, Martin LS et al (1992) Cobalamin C defect associated with hemolytic-uremic syndrome. J Pediatr 120(6): 934–937
17. Hannibal L, DiBello PM, Yu M et al (2011) The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans. Mol Genet Metab 103(3):226–239
18. Ichida F (2009) Left ventricular noncompaction. Circ J 73(1):19–26
19. Kanemoto N, Horigome H, Nakayama J et al (2006) Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium. Eur J Med Genet 49(3):247–253
20. Lerner-Ellis JP, Tirone JC, Pawelek PD et al (2006) Identification of the gene responsible for methylmalonic aciduria and homocystinuria, Cbl-C type. Nat Genet 38(1):93–100
21. Longo D, Fariello G, Dionisi-Vici C et al (2005) MRI and 1H-MRS findings in early-onset cobalamin C/D defect. Neuropediatrics 36(6):366–372
22. Madan S, Madan-Khetarpal S, Park SC et al (2010) Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion. Am J Med Genet A 152A(5):1295–1299
23. Martinelli D, Deodato F, Dionisi-Vici C (2010) Cobalamin C defect: natural history, pathophysiology, and treatment. J Inherit Metab Dis 34(1):127–135, Epub 2010 Jul 15
24. Martinez HR, Belmont JW, Craigen WJ, Taylor MD, Jefferies JL (2011) Left ventricular noncompaction in Sotos syndrome. Am J Med Genet A 155A(5):1115–1118
25. Mc Guire PJ, Parikh A, Diaz GA (2009) Profiling of oxidative stress in patients with inborn errors of metabolism. Mol Genet Metab 98(1–2):173–180
26. McCully KS (1969) Vascular pathology of homocysteinemia:implica-tions for the pathogenesis of arteriosclerosis. Am J Pathol 56(1): 111–128
27. McMahon CJ, Chang AC, Pignatelli RH et al (2005) Left ventricular noncompaction cardiomyopathy in association with trisomy 13. Pediatr Cardiol 26(4):477–479
28. Ogier de Baulny H, Gérard M, Saudubray JM, Zittoun J (1998) Remethylation defects: guidelines for clinical diagnosis and treatment. Eur J Pediatr 157(Suppl 2):S77–S83
29. Pagliarini DJ, Calvo SR, Chang B et al (2008) A mitochondrial protein compendium elucidates complex I disease biology. Cell 134(1):112–123
30. Pauli RM, Scheib-Wixted S, Cripe L et al (1999) Ventricular noncompaction and distal chromosome 5q deletion. Am J Med Genet 85(4):419–423
31. Plesa M, Kim J, Paquette SG et al (2011) Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B12 metabolism. Mol Genet Metab 102(2):139–148
32. Profitlich LE, Kirmse B, Wasserstein MP et al (2009) High prevalence of structural heart disease in children with Cbl-C-type methylmalonic aciduria and homocystinuria. Mol Genet Metab 98(4):344–348
33. Pupavac M, Garcia MA, Rosenblatt DS, Jerome-Majewska LA (2011) Expression of Mmachc and Mmadhc during mouse organogenesis. Mol Genet Metab 103(4):401–405
34. Richard E, Jorge-Finnigan A, Garcia-Villoria J et al (2009) Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type c (cblC) with homocystinuria (MMACHC). Hum Mutat 30(11):1158–1566
35. Richards A, Mao CY, Dobson NR (2009) Left ventricular non compaction: A rare cause of hydrops fetalis. Pediatr Cardiol 30(7):985–988, Epub 2009 Jun 9
36. Rosenblatt DS, Aspler AL, Shevell MI, Pletcher BA, Fenton WA, Seashore MR (1997) Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J Inherit Metab Dis 20(4):528–538
37. Sasse-Klaassen S, Probst S, Gerull B et al (2004) Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15. Circulation 109(22):2720–2723, Epub 2004 Jun 1
38. Sellars EA, Zimmerman SL, Smolarek T et al (2011) Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q3.5: An association with Hunter-McAlpine syndrome? Am J Med Genet A 155A(6):1409–1413
39. Stöllberger C, Finsterer J, Valentin A et al (1999) Isolated left ventricular abnormal trabeculation in adults is associated with neuromuscular disorders. Clin Cardiol 22(2):119–123
40. Stöllberger C, Finsterer J, Voigtlander T, Slany J (2003) Is left ventricular hypertrabeculation/noncompaction a cardiac manifestation of Fabry’s disease? Z Kardiol 92(11):966–999
41. Tang S, Batra A, Zhang Y et al (2010) Left ventricular noncompaction is associated with mutations in the mitochondrial genome. Mitochondrion 10(4):350–357
42. Thienpont B, Mertens L, Buyse G et al (2007) Left-ventricular noncompaction in a patient with monosomy 1p36. Eur J Med Genet 50(3):233–236
43. Wang JC, Dang L, Mondal TK, Khan A (2007) Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non-compaction cardiomyopathy. Am J Med Genet A143A(22):2744–2746
44. Xing Y, Ichida F, Matsuoka T et al (2006) Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. Mol Genet Metab 88(1):71–77