Clinical presentations of mitochondrial cardiomyopathies

Pediatric Cardiology

Volumn 25, Issue 5, 2004, Pages 443-450

  Lev, D ^a   Nissenkorn, A ^a   Leshinsky Silver, E ^a   Sadeh, M ^a   Zeharia, A ^b   Garty, B Z ^b   Blieden, L ^b   Barash, V ^c   Lerman Sagie, T ^a  

^a WOLFSON MEDICAL CENTER   (Israel)

^b SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^c HEBREW UNIVERSITY OF JERUSALEM   (Israel)

Author keywords

Dilated cardiomyopathy; Hypertrophic cardiomyopathy; Mitochondrial DNA

Indexed keywords

AMINO ACID; CARBOXYLIC ACID; CARNITINE; LACTIC ACID; MITOCHONDRIAL DNA; PYRUVIC ACID;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FAMILIAL DISEASE; FEMALE; GENETIC VARIABILITY; HEART DILATATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INBORN ERROR OF METABOLISM; MALE; MELAS SYNDROME; METABOLIC REGULATION; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL RESPIRATION; MULTIGENE FAMILY; OXIDATIVE PHOSPHORYLATION; POINT MUTATION; RESPIRATORY CHAIN;

ADOLESCENT; ADULT; CARDIOMYOPATHY, DILATED; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; CHILD, PRESCHOOL; CYTOCHROME-C OXIDASE DEFICIENCY; DNA, MITOCHONDRIAL; FEMALE; HUMANS; INFANT; LACTIC ACID; MALE; MELAS SYNDROME; MITOCHONDRIAL DISEASES; POINT MUTATION; RETROSPECTIVE STUDIES;

EID: 6044272949     PISSN: 01720643     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00246-003-0490-7     Document Type: Article

References (29)

1. Barth PG, Scholte HR, Berden JA, et al. (1983) An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 2:327-355
2. Bonnet D, de Lonlay P, Gautier I, et al. (1998) Efficiency of metabolic screening in childhood cardiomyopathies. Eur Heart J 19:790-739
3. Caruso U, Adami A, Bertini E, et al. (1996) Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients. J Inherit Metab Dis 19:143-148
4. Clark L (1992) Mitochondrial disorders in pediatrics. Clinical biochemical and genetic implications. Pediatr Clin N Am 39:319-334
5. D'Adamo P, Fassone L, Gedeon A, et al. (1997) The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet 61:862-867
6. DiMauro S, Moraes C (1993) Mitochondrial encephalomyopathies. Arch Neurol 50:1197-1208
7. DiMauro S, Hirano M (1998) Mitochondria and heart disease. Curr Opin Cardiol 13:190-197
8. Guenthard J, Wyler F, Fowler B, Baumgartner R (1995) Cardiomyopathy in respiratory chain disorders. Arch Dis Child 72:221-226
9. Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 46:428-433
10. Lerman-Sagie T, Rustin P, Lev D, et al. (2001) Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone. J Inherit Metab Dis 24:28-34
11. Marin-Garcia J, Ananthakrishnan Korson M, Goldenthal MJ, Perez-Atayde A (1996) Cardiac mitochondrial dysfunction in Leigh syndrome. Pediatr Cardiol 77:387-389
12. Marin-Garcia J, Goldenthal MJ (1997) Mitochondrial cardiomyopathy: molecular and biochemical analysis. Pediatr Cardiol 18:251-260
13. Marin-Garcia J, Ananthakrishnan R, Goldenthal MJ, Filiano JJ, Perez-Atayde (1999) Mitochondrial dysfunction in skeletal muscle of children with cardiomyopathy. Pediatrics 103:456-459
14. Marin-Garcia J, Ananthakrishnan R, Goldenthal MJ, Pierpont ME (2000) Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children. J Inherit Metab Dis 25:625-633
15. Munnich A, Rotig A, Chretien D, Saudubray JM, Cormier V, Rustin P (1996) Clinical presentations of mitochondrial disorders in childhood. Eur J Pediatr 155:262-274
16. Nissenkorn A, Zeharia A, Lev D, et al. (1999) Multiple presentations of mitochondrial disorders. Arch Dis Child 81:209-214
17. Rahman S, Blok RB, Dahl HH, et al. (1996) Leigh Syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 39:343-351
18. Rahman S, Lake BD, Taanman JW, et al. (2000) Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms. Brain 123:591-600
19. Rustin P, Chretien D, Bourgeron T, et al. (1994) Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 225:35-51
20. Rustin P, Lebidois J, Chretien D, et al. (1994) Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies. J Pediatr 124:224-228
21. Santorelli FM, Tessa A, D'amati G, Casali C (2001) The emerging concept of mitochondrial cardiomyopathies. Am Heart J 141:E1
22. Shoffner J, Wallace D (1990) Oxidative phosphorylation diseases. Disorders of two genomes. Adv Hum Genet 19:267-330
23. Tiranti V, Hoertnagel K, Carrozzo R, et al. (1998) Mutations of SURF-1 in Leigh syndrome associated with cytochrome c oxidase deficiency. Am J Hum Genet 65:1609-1621
24. Tulinius MH, Holme E, Kristiansson B, Larsson NG, Oldfors A (1991) Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes. J Pediatr 119:251-259
25. Valnot I, Kleist-Retzow JCvon , Barrientos A, et al. (2000) A mutation in the human heme A: farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency. Hum Mol Genet 9:1245-1249
26. Wallace DC (2000) Mitochondrial defects in cardiomyopathy and neuromuscular disease. Am Heart J 139:2 pt 3S70-S85
27. Zeviani M, Gellera C, Antozzi C, et al. (1991) Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA (Leu) (UUR). Lancet 20:143-147
28. Zeviani M, Mariotti C, Antozzi C, Fratta GM, Rustin P, Prelle A (1995) OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy. Muscle Nerve 3:S170-S174
29. Zeviani M, Bertagnolio B, Uziel G (1996) Neurological presentations of mitochondrial diseases. J Inherit Metab Dis 19:504-520