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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Friedreich's ataxia is almost always associated with a cardiomyopathy. The cardiomyopathy and its attendant cardiopulmonary sequelae is the usual cause of death in this disease. The author reviews the known pharmacology of the heart, particularly as it applies to hypertrophic cardiomyopathy. The important role played by calcium and the possible role of taurine is stressed. Therapeutic possibilities are mentioned.
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PMID:Cardiac pharmacology and cardiomyopathy in Friedreich's ataxia. 2 6

This joint work has studied the cardiomyopathies occurring in hereditary neuro-muscular disorders (270 cases). The Duchenne type of disorder (74 cases) was responsible for asystole (4 cases), for cardiomegaly, and especially for abnormalities of the ECG (59 cases)--Q waves and large R waves in V1 and V6. The cardiomyopathy was of the hypokinetic type, with histological evidence of degeneration of the myocardial fibres. Dystrophia myotonica of Steinart (23 cases) caused conductive disorders (17 cases) which were either atrioventricular or intra-ventricular or both. Studies of the His pathway confirmed that these abnormalities were more diffuse in 5 cases. The main histological feature was interstitial fibrosis. There was a high risk of sudden death; ECG follow-up should be close. Friedreich's disease (20 cases) in its complete form led to later development of obstructive cardiomyopathy, with a systolic ejection murmur, cardiomegaly, and abnormalities of the ECG--left ventricular hypertrophy in the vertical axis, right ventricular and septal hypertrophy, repolarisation disorders similar to those found in coronary artery disease. Histology showed hypertrophy with degeneration of the myocardial fibres and interstitial fibrosis. This complete form was rare (7 cases out of 20); on the other hand, ECG abnormalites were very common (16 cases out of 20). The authors have tried to study the relationships between primary cardiomyopathies (50 cases) and peripheral neuromuscular disorders. 17 of the 39 peripheral muscle biopsies were abnormal, but a well-defined muscular dystrophy could not be found in them.
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PMID:[The myocardiopathies of hereditary neuro-muscular diseases]. 9 58

A single case of typical Friedreich's ataxia was analyzed for cardiac changes and compared to the findings from the literature. Macroscopically, there was a cardiomegaly with some degree of ventricular hypertrophy and probable mild dilatation of the auricles. The more important and constant histologic changes were myocardial fibrosis and degeneration of the cardiac muscle cells. Granular deposits of calcium salts and iron were found in the muscle cells. A cardiomyopathy hypertrophic in type and occasionally obstructive appears to be an integral part of Friedreich's ataxia.
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PMID:Pathology of the heart in Friedreich's ataxia: review of the literature and report of one case. 18 9

In light of the available information on the cardiomyopathy of Friedreich's ataxia, the cardiomyopathic Syrian hamster may be an appropriate laboratory model. Cardiomyopathy in these animals is a result of calcium accumulation. We analyzed the atria and right and left ventricles from cardiomyopathic (CM) and random bred (RB) animals for calcium, magnesium, and iron concentrations at 30-40 and 60-70 days of age (age of maximum lesioning). There are no significant differences in the concentration of iron or magnesium among age-matched groups. The concentration of calcium in the left ventricles of the CM animals at 60 days old is 14 fold higher than that of RB animals. Although there is a significant difference in the concentration of calcium in the left ventricles of younger animals, it is not as pronounced as the difference in older animals. Analysis of the taurine concentration in 30-40 day old animals revealed that the CM animals show slightly higher taurine concentrations than RB in the whole heart. In 60 day old CM hamsters in the beta-adrenergic receptor density of the ventricles is unchanged. This indicates that calcium overload is not due to adrenergic supersensitivity.
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PMID:The Syrian golden hamster: a model for the cardiomyopathy of Friedreich's ataxia. 22 57

The evolution of 15 patients initially evaluated during Phase One of the Quebec Cooperative Study of Friedreich's ataxia has been studied approximately three years later. It is concluded that the deterioration of cardio-pulmonary function in Friedreich's ataxia is multifactorial. The neuromyopathy (or the underlying metabolic or cellular defect) appears to be the main contributing factor to the deterioration of cardio-pulmonary function, which is exacerbated by the scoliosis and varying severity of the cardiomyopathy.
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PMID:Evolution of cardio-pulmonary involvement in Friedreich's ataxia. 48 3

Friedreich's Ataxia (F.A.) is a degenerative disease which commonly leads to premature death of cardiorespiratory origin. To explain the early death of these patients, previous investigations have established the existence of 1) a cardiomyopathy in nearly 100% of cases, 2) a restrictive pulmonary syndrome of scoliotic origin and 3) a mild hypoxemia associated with slight respiratory alkalosis and a normal oxyhemoglobin dissociation curve. To further assess the cause of early death in patients with such neuromyopathy, we evaluated, in eleven F.A. patients, the sensitivity of the respiratory centers to hypercapnia, hypoxia, and hyperoxia. Ventilatory (VE, VT, F, VT/Ti) and occlusion pressure (P0.1) responses were taken as indices of the respiratory centers output during progressive hypercapnia (Read's method) and isocarbic hypoxia (Weil's method). We studied 11 Friedreich's Ataxia patients and 11 age, sex, and armspan matched controls. The responses of patients to hypercapnia were significantly greater than controls but their responses to hypoxia were similar to controls. Our study establishes that the respiratory centers are functioning adequately in early Friedreich's Ataxia and do not contribute to cardio-respiratory insufficiency in such neuromyopathy.
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PMID:Regulation of respiration in Friedreich's ataxia. 48 4

The authors investigated 10 ambulant patients with myotonic dystrophy, under 40 years of age (mean 22.3 years) and free of subjective heart complaints. Not only Ecg alterations but also kinetocardiographic changes and anomalies of the systolic intervals were rarer and milder than those found in patients with other neuromyopathies, namely Friedreich's disease and Duchenne's disease. This observation suggests that, at least in older patients, not all the cardiac alterations usually attributed to myotonic dystrophy are really imputable to the disease. On the other hand, the observed echocardiographic alterations (reduction of per cent systolic-diastolic variation of internal diameter of the left ventricle and/or the ejection fraction) apparently indicate an early tendency to modification of left ventricular function in patients with myotonic dystrophy. Since other authors have found cardiac anomalies in this disease before the onset of any neurological manifestations, the possibility emerges that some cases of myocardial disease interpreted as "primitive" might in reality be secondary to undetected myopathy.
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PMID:On some cardiological aspects of Steinert's disease (myotonic dystrophy). 54 5

The hypothesis is that an abnormal oxygen-hemoglobin dissociation curve is a primary or a secondary defect in patients with Friedreich's ataxia was investigated in 12 subjects with this disease. Hemoglobin and P50 were measured and compared with age and sex matched controls. The mean hemoglobin concentration was 14.2 g% and the P50 was 26.25 torr for the patients and 13.8 g% and 26.27 torr in the controls. These results indicate that the oxygen transport system is normal in this disease and likely exclude an abnormal oxygen dissociation curve as a primary or a secondary factor in the pathophysiology of the cardiomyopathy and the neuromyopathy found in this disease.
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PMID:Oxygen transport in patients with Friedreich's ataxia. 64 3

In familial Friedreich's ataxia besides lesions of the nervous system there is also cardiac pathology, which frequently may be the reason of a lethal outcome. As a result of a clinico-morphological study of the heart of a deceased patient, it was demonstrated that the character of morphological changes points to severe dystrophical changes of the myocardium of the "idiopathical" cardiomyopathy type.
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PMID:[Cardiac changes in familial Friedreich's ataxia (clinico-morphologic study)]. 72 54

The electrocardiogram of Friedrich's disease shows pathological findings in all examined patients, mostly T-wave inversion. On the other hand cases of abortive Friedreich's disease and of cerebellar ataxia Nonne-Marie don't present any substantial alteration of ecg. To a minor extent roentgenological findings might suggest Friedreich's cardiomyopathy discussed as a possible result of a neuro-myo-cardiac process.
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PMID:[T inversion in Friedreich's ataxia]. 96 28


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