Back to Search
Start Over
Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene.
- Source :
-
European Journal of Pediatrics . Jul2008, Vol. 167 Issue 7, p771-776. 6p. 2 Color Photographs, 1 Black and White Photograph, 2 Charts. - Publication Year :
- 2008
-
Abstract
- A 6-week-old child presented with hypotonia, myopathy, and a rapidly worsening dilated cardiomyopathy with severe atrial and ventricular arrhythmias and pulmonary hypertension, which proved fatal at age 3 months. Biochemical analysis showed a combined deficiency of the enzymatic activities of complexes I and IV and molecular studies identified a T14709C mutation in the mitochondrial tRNA glutamic acid gene. A review of symptomatology in patients with this mutation shows that it mainly presents in childhood or young adults with mild myopathy and diabetes mellitus. Infants with a high, nearly homoplasmic mutant load can present with more severe symptoms including cardiomyopathy. Families with this mitochondrial DNA mutation should be aware that increased mutant load in a subsequent generation may result in severe and often fatal cardiac symptoms. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 03406199
- Volume :
- 167
- Issue :
- 7
- Database :
- Academic Search Index
- Journal :
- European Journal of Pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 32118799
- Full Text :
- https://doi.org/10.1007/s00431-007-0587-8