title: Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene.
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.
authors: Department of Pediatrics, The University of Colorado at Denver Health Sciences Center and The Children's Hospital, Denver, CO 80045, USA. Johan.Vanhove@uchsc.edu
authors: Johan L K
authors: JL
authors: Van Hove
authors: Cynthia
authors: C
authors: Freehauf
authors: Shelley
authors: S
authors: Miyamoto
authors: Georgirene D
authors: GD
authors: Vladutiu
authors: Jacklyn
authors: J
authors: Pancrudo
authors: Eduardo
authors: E
authors: Bonilla
authors: Mark A
authors: MA
authors: Lovell
authors: Gary W
authors: GW
authors: Mierau
authors: Janet A
authors: JA
authors: Thomas
authors: Sara
authors: S
authors: Shanske
mesh_terms: D009202:Cardiomyopathies / Q000209:etiology* / Q000503:physiopathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D028361:Mitochondrial Diseases / Q000235:genetics*; D009154:Mutation; D012352:RNA, Transfer, Glu / Q000235:genetics*
chemical_list: D012352:RNA, Transfer, Glu