000			02601na a2200337 4500
999			_c6603 _d6603
003			PC6603
005			20210625062804.0
008			130622s2013 xxx||||| |||| 00| 0 eng d
040			_cH12O
041			_aeng
100			_aGarcía-Consuegra Galiana, Inés _91867 _eInstituto de Investigación i+12
100			_aGarcía Silva, María Teresa _9657 _eUnidad de Enfermedades Metabólicas y Mitocondriales
100			_9862 _aGaresse, Rafael _eInstituto de Investigación i+12
100			_9345 _aMartín Casanueva, Miguel Ángel _eBioquímica Clínica
245	0	0	_aCardiac dysfunction in mitochondrial disease. _h[artículo]
260			_bCirculation journal: official journal of the Japanese Circulation Society, _c2013
500			_aFormato Vancouver: Villar P, Bretón B, García-Pavía P, González-Páramos C, Blázquez A, Gómez-Bueno M et al. Cardiac dysfunction in mitochondrial disease. Clinical and molecular features. Circ J. 2013;77(11):2799-806.
501			_aPMID: 23965802
504			_aContiene 50 referencias
520			_aBackground: Mitochondrial disorders (MD) are multisystem diseases that arise as a result of dysfunction of the oxidative phosphorylation system. The predominance of neuromuscular manifestations in MD could mask the presence of other clinical phenotypes such as cardiac dysfunction. Reported here is a retrospective study, the main objective of which was to characterize the clinical and molecular features of a cohort of patients with cardiomyopathy and MD. Methods and Results: Hospital charts of 2,520 patients, evaluated for presumed MD were reviewed. The clinical criterion for inclusion in this study was the presence of a cardiac disturbance accompanied by a mitochondrial dysfunction. Only 71 patients met this criterion. The mitochondrial genome (mtDNA) could be sequenced only in 45 and the pathogenicity of 2 of the found changes was investigated using transmitochondrial cybrids. Three nucleotide changes in mtDNA that may be relevant and 3 with confirmed pathogenicity were identified but no mutations were found in the 13 nuclear genes analyzed. Conclusions: The mtDNA should be sequenced in patients with cardiac dysfunction accompanied by symptoms suggestive of MD; databases should be carefully and periodically screened to discard mitochondrial variants that could be associated with MD; functional assays are necessary to classify mitochondrial variants as pathogenic or polymorphic; and additional efforts must be made in order to identify nuclear genes that can explain some as yet uncharacterized molecular features of mitochondrial cardiomyopathy.
710			_9446 _aServicio de Pediatría-Neonatología
710			_9625 _aInstituto de Investigación imas12
856			_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/6/pc6603.pdf _ySolicitar documento
942			_n0 _2ddc _cART