Prolonged QTc Intervals and Decreased Left Ventricular Contractility in Patients with Propionic Acidemia

Journal of Pediatrics

Volumn 150, Issue 2, 2007, Pages

  Baumgartner, Daniela ^a   Scholl Bürgi, Sabine ^a   Sass, Jörn Oliver ^a   Sperl, Wolfgang ^a   Schweigmann, Ulrich ^a   Stein, Jörg Ingolf ^a   Karall, Daniela ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

PROPIONYL COENZYME A CARBOXYLASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONGESTIVE CARDIOMYOPATHY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ELECTROPHYSIOLOGY; EXERCISE TEST; FEMALE; FOLLOW UP; HEART ARRHYTHMIA; HEART LEFT VENTRICLE CONTRACTILITY; HEART LEFT VENTRICLE CONTRACTION; HEART LEFT VENTRICLE FAILURE; HEART LEFT VENTRICLE FUNCTION; HEART MUSCLE INJURY; HUMAN; INBORN ERROR OF METABOLISM; LONGITUDINAL STUDY; MALE; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; QT PROLONGATION; REPOLARIZATION;

EID: 33846340459     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2006.11.043     Document Type: Article

References (27)

1. Fenton W.A., Gravel W.A., and Rosenblatt D.S. Disorders of propionate and methylmalonate metabolism. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Diseases. 8th ed (2001), McGraw-Hill, New York 2165-2193
2. Perez B., Desviat L.R., Rodriguez-Pombo P., Clavero S., Navarrete R., Perez-Cerda C., et al. Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. Mol Genet Metab 78 (2003) 59-67
3. Muro S., Rodriguez-Pombo P., Perez B., Perez-Cerda C., Desviat L.R., Sperl W., et al. Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Human Mutat 14 (1999) 89-90
4. Lehnert W., Sperl W., Suormala T., and Baumgartner R. Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients. Eur J Pediatr 153 (1994) 68-80
5. Sweetman L., and Williams J.C. Branched chain organic acidurias. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Basis of Iinherited Disease. 8th ed (2001), McGraw-Hill, New York 2125-2163
6. Ogier de Baulny H., and Saudubray J.M. Branched-chain organic acidurias. In: Fernandes J., Saudubray J.M., and van den Berghe G. (Eds). Inborn Metabolic Diseases. 3rd ed (2000), Springer, Berlin, Heidelberg, New York 196-212
7. North K.N., Korson M.S., Gopal Y.R., Rohr F.J., Brazelton T.B., Waisbren S.E., et al. Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management. J Pediatr 126 (1995) 916-922
8. Sass J.O., Hofmann M., Skladal D., Mayatepek E., Schwahn B., and Sperl W. Propionic acidemia revisited: a workshop report. Clin Pediatr 43 (2004) 837-843
9. Kohlschütter A., and Hausdorf G. Primary (genetic) cardiomyopathies in infancy. A survey of possible disorders and guidelines for diagnosis. Eur J Pediatr 145 (1986) 454-459
10. Guertl B., Noehammer C., and Hoefler G. Metabolic cardiomyopathies. Int J Exp Path 81 (2000) 349-372
11. Massoud A.F., and Leonard J.V. Cardiomyopathy in propionic acidaemia. Eur J Pediatr 152 (1993) 441-445
12. Mardach R., Verity M.A., and Cederbaum S.D. Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. Mol Genet Metab 85 (2005) 286-290
13. Bhan A.K., and Brody C. Propionic acidemia: a rare cause of cardiomyopathy. Congest Heart Fail 7 (2001) 218-219
14. Lücke T., Perez-Cerda C., Baumgartner M., Fowler B., Sander S., Sasse M., et al. Propionic academia: unusual course with late onset and fatal outcome. Metabolism 53 (2004) 809-810
15. Ou P., Touati G., Fraisse A., Sidi D., Kachaner J., Saudubray J.M., et al. Une cause rare de cardiomyopathie de l'enfant: l'acidemie propionique. A propos de 3 cas. Arch Mal Cœur 94 (2001) 531-533
16. Kakavand B., Schroeder V.A., and Di Sessa T.G. Coincidence of long QT syndrome and propionic acidemia. Pediatr Cardiol 27 (2006) 160-161
17. Sperl W., Murr C., Skladal D., Sass J.O., Suormala R., and Wendel U. Odd-numbered long-chain fatty acids in propionic acidaemia. Eur J Pediatr 159 (2000) 54-58
18. Bazett H.C. An analysis of the time-relations of electrocardiograms. Heart 7 (1920) 353-370
19. Day C.P., McComb J.M., and Campbell R.W.F. QT dispersion: an indication of arrhythmia risk in patients with long QT intervals. Br Heart J 63 (1990) 342-344
20. Sahn D.J., DeMaria A., Kissolo J., and Weyman A. Recommendations regarding quantitation in M-mode echocardiography: results of a survey of echocardiographic measurements. Circulation 58 (1978) 1072-1083
21. Goodwin J.F. The frontiers of cardiomyopathy. Br Heart J 48 (1982) 1-18
22. Moss A.J. QTc prolongation and sudden cardiac death. The association is in the detail. J Am Coll Cardiol 47 (2006) 368-369
23. Straus S.M.J.M., Kors J.A., De Bruin M.L., van der Hooft C.S., Hofman A., Heeringa J., et al. Prolonged QTc interval and risk of sudden cardiac death in a population of older adults. J Am Coll Cardiol 47 (2006) 362-367
24. Rijlaarsdam R.S., van Spronsen F.J., Bink-Boelkens M.T.E., Reijngoud D.J., Wanders R.J.A., Niezen-Koning K.E., et al. Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence. Pace 27 (2004) 675-676
25. Mitcheson J.S., Chen J., Lin M., Culberson C., and Sanguinetti M.C. A structural basis for drug-induced long QT syndrome. Proc Natl Acad Sci USA 97 (2000) 12329-12333
26. Kölker S., Schwab M., Hörster F., Sauer S., Hinz A., Wolf N.I., et al. Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain. J Biolog Chem 278 (2003) 47388-47393
27. Schwartz P.J., Stramba-Badiale M., Segantini A., Austoni P., Bosi G., Giorgetti R., et al. Prolongation of the QT interval and the sudden infant death syndrome. N Engl J Med 338 (1998) 1709-1714