RESUMO
PURPOSE: To evaluate myocardial conductivity to understand cardiac involvement in patients with mitochondrial disease. METHODS: We performed retrospective study on fifty-seven nonspecific mitochondrial encephalopathy patients with no clinical cardiac manifestations. The patients were diagnosed with mitochondrial respiratory chain complex defects through biochemical enzyme assays of muscle tissue. We performed standard 12-lead electrocardiography (ECG) on all patients. RESULTS: ECG abnormalities were observed in 30 patients (52.6%). Prolongation of the QTc interval (>440 ms) was seen in 19 patients (33.3%), widening of the corrected QRS interval in 15 (26.3%), and bundle branch block in four (7.0%). Atrioventricular block, premature atrial contraction and premature ventricular contraction were seen in two patients each (3.5%) and Wolff-Parkinson-White syndrome in one patient (1.8%). CONCLUSION: Given this finding, we recommend active screening with ECG in patients with mitochondrial disease even in patients without obvious cardiac manifestation.
Assuntos
Criança , Humanos , Complexos Atriais Prematuros , Bloqueio Atrioventricular , Bloqueio de Ramo , Eletrocardiografia , Transporte de Elétrons , Ensaios Enzimáticos , Coração , Programas de Rastreamento , Mitocôndrias , Doenças Mitocondriais , Encefalomiopatias Mitocondriais , Músculos , Estudos Retrospectivos , Complexos Ventriculares Prematuros , Síndrome de Wolff-Parkinson-WhiteRESUMO
PURPOSE: Mitochondrial dysfunction can present with various symptoms depending on the organ it has affected. This research tried to analyze the ophthalmologic symptoms and ophthalmologic examination (OE) results in patients with mitochondrial disease (MD). METHODS: Seventy-four patients diagnosed with mitochondrial respiratory chain complex defect with biochemical enzyme assay were included in the study. They were divided into 2 groups based on the OE results by funduscopy and were analyzed on the basis of their clinical features, biochemical test results, morphological analysis, and neuroimaging findings. RESULTS: Thirty-seven (50%) of the 74 MD patients developed ophthalmologic symptoms. Abnormal findings were observed in 36 (48.6%) patients during an OE, and 16 (21.6%) of them had no ocular symptoms. Significantly higher rates of prematurity, clinical history of epilepsy or frequent apnea events, abnormal light microscopic findings in muscle pathology, diffuse cerebral atrophy in magnetic resonance imaging, and brainstem hyperintensity and lactate peaks in magnetic resonance spectroscopy were noted in the group with abnormal OE results. CONCLUSION: Although the ophthalmologic symptoms are not very remarkable in MD patients, an OE is required. When the risk factors mentioned above are observed, a more active approach should be taken in the OE because a higher frequency of ocular involvement can be expected.
Assuntos
Criança , Humanos , Apneia , Atrofia , Tronco Encefálico , Transporte de Elétrons , Ensaios Enzimáticos , Epilepsia , Ácido Láctico , Luz , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Mitocôndrias , Doenças Mitocondriais , Músculos , Neuroimagem , Oftalmologia , Retina , Fatores de RiscoRESUMO
No abstract available.