Cardiac Manifestations in Oxidative Phosphorylation Disorders of Childhood

Journal of Pediatrics

Volumn 150, Issue 4, 2007, Pages 407-411

  Yaplito Lee, J ^a   Weintraub, R ^b,c   Jamsen, K ^d   Chow, C W ^b,c   Thorburn, D R ^c   Boneh, A ^a,c  

^a Genetic Health Services Victoria   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE;

ADOLESCENT; ARTICLE; CHILD; CLINICAL FEATURE; COMPLEX I DEFICIENCY; COMPLEX III DEFICIENCY; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; FEMALE; FETUS; FOLLOW UP; HEART DISEASE; HEART MUSCLE CONDUCTION DISTURBANCE; HEART VENTRICLE HYPERTROPHY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INBORN ERROR OF METABOLISM; INFANT; LABORATORY DIAGNOSIS; LEIGH DISEASE; MALE; MEDICAL RECORD; NEWBORN; OXIDATIVE PHOSPHORYLATION; OXIDATIVE PHOSPHORYLATION DISORDER; PEDIATRIC HOSPITAL; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SYSTOLIC DYSFUNCTION;

ADOLESCENT; AGE OF ONSET; CAUSALITY; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; COMORBIDITY; FEMALE; FOLLOW-UP STUDIES; HEART DISEASES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MITOCHONDRIAL DISEASES; PREVALENCE; RETROSPECTIVE STUDIES; SEX DISTRIBUTION; SURVIVAL ANALYSIS; VICTORIA;

EID: 33947285487     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2006.12.047     Document Type: Article

References (24)

1. Munnich A., and Rustin P. Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet 106 (2001) 4-17
2. Holmgren D., Wahlander H., Eriksson B.O., Oldfors A., Holme E., and Tulinius M. Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings. Eur Heart J 24 (2003) 280-288
3. Scaglia F., Towbin J.A., Craigen W.J., Belmont J.W., Smith E.O., Neish S.R., et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 114 (2004) 925-931
4. Marin-Garcia J., and Goldenthal M.J. Mitochondrial cardiomyopathy: molecular and biochemical analysis. Pediatr Cardiol 18 (1997) 251-260
5. Marin-Garcia J., Ananthakrishnan R., Goldenthal M.J., and Pierpont M.E. Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children. J Inherit Metab Dis 23 (2000) 625-633
6. Marin-Garcia J., Goldenthal M.J., Ananthakrishnan R., and Pierpont M.E. The complete sequence of mtDNA genes in idiopathic dilated cardiomyopathy shows novel missense and tRNA mutations. J Card Fail 6 (2000) 321-329
7. Guenthard J., Wyler F., Fowler B., and Baumgartner R. Cardiomyopathy in respiratory chain disorders. Arch Dis Child 72 (1995) 223-226
8. Anan R., Nakagawa M., Miyata M., Higuchi I., Nakao S., Suehara M., et al. Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation 91 (1995) 955-961
9. Bernier F.P., Boneh A., Dennett X., Chow C.W., Cleary M.A., and Thorburn D.R. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59 (2002) 1406-1411
10. Richardson P., McKenna W., Bristow M., Maisch B., Mautner B., O'Connell J., et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation 93 (1996) 841-842
11. von Kleist-Retzow J.C., Cormier-Daire V., de Lonlay P., Parfait B., Chretien D., Rustin P., et al. A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency. Am J Hum Genet 63 (1998) 428-435
12. Lev D., Nissenkorn A., Leshinsky-Silver E., Sadeh M., Zeharia A., Garty B.Z., et al. Clinical presentations of mitochondrial cardiomyopathies. Pediatr Cardiol 25 (2004) 443-450
13. Skladal D., Halliday J., and Thorburn D.R. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 126 (2003) 1905-1912
14. Bohm M., Pronicka E., Karczmarewicz E., Pronicki M., Piekutowska-Abramczuk D., Sykut-Cegielska J., et al. Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. Pediatr Res 59 (2006) 21-26
15. Antozzi C., and Zeviani M. Cardiomyopathies in disorders of oxidative metabolism. Cardiovasc Res 35 (1997) 184-199
16. Marin-Garcia J., and Goldenthal M.J. Understanding the impact of mitochondrial defects in cardiovascular disease: a review. J Card Fail 8 (2002) 347-361
17. Silvestri G., Santorelli F.M., Shanske S., Whitley C.B., Schimmenti L.A., Smith S.A., et al. A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy. Hum Mutat 3 (1994) 37-43
18. Pastores G.M., Santorelli F.M., Shanske S., Gelb B.D., Fyfe B., Wolfe D., et al. Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). Am J Med Genet 50 (1994) 265-271
19. Zeviani M., Gellera C., Antozzi C., Rimoldi M., Morandi L., Villani F., et al. Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR). Lancet 338 (1991) 143-147
20. Wallace D.C. Mitochondrial defects in cardiomyopathy and neuromuscular disease. Am Heart J 139 (2000) S70-S85
21. Sayen M.R., Gustafsson A.B., Sussman M.A., Molkentin J.D., and Gottlieb R.A. Calcineurin transgenic mice have mitochondrial dysfunction and elevated superoxide production. Am J Physiol Cell Physiol 284 (2003) C562-C570
22. Williams R.S. Calcineurin signaling in human cardiac hypertrophy. Circulation 105 (2002) 2242-2243
23. Wilkins B.J., and Molkentin J.D. Calcium-calcineurin signaling in the regulation of cardiac hypertrophy. Biochem Biophys Res Commun 322 (2004) 1178-1191
24. Momiyama Y., Atsumi Y., Ohsuzu F., Ui S., Morinaga S., Matsuoka K., et al. Rapid progression of cardiomyopathy in mitochondrial diabetes. Jpn Circ J 63 (1999) 130-132