Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Charcot-Marie-Tooth disease (peroneal muscular atrophy) has been reported to cause cardiac arrthymias and conduction disturbances in association with peripheral muscle atrophy. To establish more accurately the frequency of such cardiac disorders in this disease, 68 patients with Charcot-Marie-Tooth disease were evaluated prospectively for evidence of cardiac involvement. Cardiac findings were limited to five patients with conduction defects, two patients with supraventricular tachycardia, two patients with ischemic heart disease, and 20 with mitral valve prolapse. The frequency of each of the abnormal cardiac findings, with the possibly emalities in the population at large. The low incidence of cardiac involvement in patients with Charcot-Marie-Tooth disease may be helpful in distinguishing this disorder from Friedreich's ataxia, an entity that may mimic Charcot-Marie-Tooth disease but that is frequently associated with heart disease.
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PMID:Cardiac findings in Charcot-Marie-Tooth disease. A prospective study of 68 patients. 48 49

The frequency and characteristics of cardiac involvement have been evaluated in 22 patients with Friedreich's ataxia and in 10 patients with non Friedreich's ataxia (Strumpell-Lorraine 5 cases; Pierre Marie 5 cases), classified according to the severity and the lasting of neurological disease. In a high percentage (45%) of patients with Friedreich's ataxia, the results show left ventricular hypertrophy as proved echocardiographically by an increase of the interventricular septum thickness and of the posterior wall thickness. On the contrary, no patient with non Friedreich's ataxia had left ventricular hypertrophy. In the patients with Friedreich's ataxia, left ventricular hypertrophy was of concentric type in 27% of the cases and of asymmetric type in 18% of the cases; left ventricular systolic indexes were not reduced. The left ventricular end-diastolic diameter was normal in all the patients. Furthermore, in 4 patients with Friedreich's ataxia (18% of the cases) without left ventricular hypertrophy, mitral valve prolapse has been found. No correlation exists between the severity and the lasting of neurologic disease and the presence of cardiac hypertrophy. This supports the hypothesis that the cardiac abnormality is a primary expression of a genetic defect and not a secondary manifestation of spinocerebellar degeneration. It is therefore necessary to always consider a patient with Friedreich's ataxia as affected with a cardiac disease even if it is not clinically evident.
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PMID:[Cardiac involvement in Friedreich's heredo-ataxia]. 294 Jan 41