Fetal dilated cardiomyopathy: An unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type

Prenatal Diagnosis

Volumn 29, Issue 3, 2009, Pages 266-270

  De Bie, Isabelle ^a   Nizard, Sonia Dal Pozzo ^a   Mitchell, Grant A ^a,b  

^a Division of Medical Genetics   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

CblC type; Dilated cardiomyopathy; Fetal anomalies; Inborn errors of metabolism; Methylmalonic aciduria and hyperho mocystinuria; Prenatal diagnosis; Single gene disorder

Indexed keywords

ACETYLSALICYLIC ACID; BETAINE; CARNITINE; FOLIC ACID; HYDROXOCOBALAMIN;

ARTICLE; CASE REPORT; CONGESTIVE CARDIOMYOPATHY; CYANOCOBALAMIN DEFICIENCY; ECHOCARDIOGRAPHY; FETUS ECHOGRAPHY; GROWTH RETARDATION; HOMOCYSTINURIA; HUMAN; HYPERHOMOCYSTINURIA; INBORN ERROR OF METABOLISM; MALE; METHYLMALONIC ACIDURIA; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN RESTRICTION;

ADULT; AMINO ACID METABOLISM, INBORN ERRORS; CARDIOMYOPATHY, DILATED; DIET, PROTEIN-RESTRICTED; FEMALE; FETAL GROWTH RETARDATION; HOMOCYSTINURIA; HUMANS; HYDROXOCOBALAMIN; INFANT, NEWBORN; INJECTIONS, INTRAMUSCULAR; MALE; MEMBRANE TRANSPORT PROTEINS; MITOCHONDRIAL PROTEINS; PREGNANCY; ULTRASONOGRAPHY, PRENATAL; VITAMINS;

EID: 61449182656     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2218     Document Type: Article

References (31)

1. Ampola MG, Mahoney MJ, Nakamura E, Tanaka K. 1975. Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia. N Engl J Med 293(7): 313-317.
2. Andersson HC, Marble M, Shapira E. 1999. Long-term outcome in treated combined methylmalonic acidemia and homocystinemia. Genet Med 1(4): 146-150.
3. Brandsetter 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.
4. De Baulny HO, Benoist JF, Rigal O, Touati G, Rabier D, Saudubray JM. 2005. Methylmalonic and propionic acidemias: management and outcome. J Inherit Metab Dis 28(3): 415-423.
5. Dichgans M. 2007. Genetics of ischaemic stroke. Lancet Neurol 6(2): 149-161.
6. Gilbert-Barness E. 2002. Cardiovascular involvement in metabolic diseases. Pediatr Pathol Mol Med 21(2): 93-136.
7. Hershberger RE, Kushner JD, Parks SB. 2007. Dilated cardiomyopathy overview. In GeneReviews, www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book= gene&part=dcm-ov.
8. Huemer M, Simma B, Fowler B, Suormala T, Bodamer OA, Sass JO. 2005. Prenatal and postnatal treatment in cobalamin C defect. J Pediatr 147(4): 469-472.
9. Kaski JP, Elliott P. 2007. The classification concept of the ESC Working Group on myocardial and pericardial diseases for dilated cardiomyopathy. Herz 32(6): 446-451.
10. Lerner-Ellis JP, Tirone JC, Pawelek PD, et al. 2006. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat Genet 38(1): 93-100.
11. Merinero B, Pérez-Cerdá C, Garcia MJ, et al. 1998. Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria. Prenat Diagn 18(9): 947-952.
12. Mitchell GA, Watkins D, Melançon SB, et al. 1986. Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria. J Pediatr 108(3): 410-415.
13. Morel CF, Lerner-Ellis JP, Rosenblatt DS. 2006. Combined methyl-malonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. Mol Genet Metab 88(4): 315-321.
14. Morel CF, Watkins D, Scott P, Rinaldo P, Rosenblatt DS. 2005. Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport. Mol Genet Metab 86(1-2): 160-171.
15. Nogueira C, Aiello C, Cerone R, et al. 2008. Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. Mol Genet Metab 93(4): 475-480.
16. Ogier de Baulny H, Gerard M, Saudubray JM, Zittoun J. 1998. Remethylation defects: guidelines for clinical diagnosis and treatment. Eur J Pediatr 157(2): S77-S83.
17. Pedra SR, Smallhorn JF, Ryan G, et al. 2002. Fetal cardiomyopathies: pathogenic mechanisms, hemodynamic findings, and clinical outcome. Circulation 106(5): 585-591.
18. 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.
19. Rosenblatt DS, Fenton WA. 2001. Inherited disorders of folate and cobalamin transport and metabolism. In The Metabolic and Molecular Bases ofInherited Disease, Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW (eds). McGraw-Hill: New York; 3897-3933.
20. Roze E, Gervais D, Demeret S, et al. 2003. Neuropsychiatric disturbances in presumed late-onset cobalamin C disease. Arch Neurol 60(10): 1457-1462.
21. Saudubray JM, Desguerre I, Sedel F, Charpentier C. 2006. A clinical approach to inherited metabolic disorders. In Inborn Metabolic Diseases, Diagnosis and Treatment, Fernandes J, Saudubray JM, van den Berghe G, Walter JH (eds). Springer: Heildelberg; 39.
22. Schwartz ML, Cox GF, Lin AE, et al. 1996. Clinical approach to genetic cardiomyopathy in children. Circulation 94(8): 2021-2038.
23. Sivasankaran S, Sharland GK, Simpson JM. 2005. Dilated cardiomy-opathy presenting during fetal life. Cardiol Young 15(4): 409-416.
24. Spada M, Fowler B, Bonnetti G, et al. 1999. Fetal therapy in combined methylmalonic aciduria and homocystinuria. J Inherit Metab Dis 22(S1): 91 (abstr).
25. Thauvin-Robinet C, Roze E, Couvreur G, et al. 2008. The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum. J Neurol Neurosurg Psychiatry 79(6): 725-728.
26. Tomaske M, Bosk A, Heinemann MK, et al. 2001. CblC/D defect combined with haemodynamically highly relevant VSD. J Inherit Metab Dis 24(4): 511-512.
27. Towbin JA, Lowe AM, Colan SD, et al. 2006. Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA 296(15): 1867-1876.
28. Tsai AC, Morel CF, Scharer G, et al. 2007. Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsy-chiatric disturbance. Am JMed Genet A 143(20): 2430-2434.
29. Van der Meer SB, Spaapen LJ, Fowler B, Jakobs C, Kleijer WJ, Wendel U. 1990. Prenatal treatment of a patient with vitamin B12-responsive methylmalonic acidemia. J Pediatr 117(6): 923-926.
30. Zass R, Leupold D, Fernandez MA, Wendel U. 1995. Evaluation of prenatal treatment in newborns with cobalamin-responsive methylmalonic acidaemia. J Inherit Metab Dis 18(1): 100-101.
31. Zhang Y, Yang YL, Hasegawa Y, et al. 2008. Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid. Chin Med J (Engl) 121(3): 216-219.