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

Most articles on Friedreich's ataxia report that cardiac complications are almost universal in patients with this disease. However, the present study of 30 cases, observed for two to ten years, seems to belie the experience of other writers in the field. Only six (20 per cent) of these patients showed electrocardiographic abnormalities. Only one patient had cardiac enlargement and congestive heart failure. One other patient had paroxysmal tachycardia. Seventy-four family members were also studied and the results were similar. It is suggested that this impressive difference may be a racial one and indeed very few reports on Friedreich's ataxia have come from India. Further study of this group of patients is in progress. The author also includes a review of the literature of neuromyopathic diseases and their relationship to myocardial involvement.
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PMID:Heart in Friedreich's ataxia. 12 3

Electrocardiographic and vectocardiographic changes are frequent in Friedreich's ataxia. In one of 35 patients both tests were normal. The vectocardiogram is more explicit in demonstrating the severity of the QRS changes with a right ventricular hypertrophy pattern present in 60% of cases. Serial examination of ECG tracings are recommended to monitor the cardiomyopathy in this progressive neurological disorder, in order to detect the onset of congestive heart failure, significant tachyarrythmias, or obstructive cardiomypathy.
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PMID:Electrocardiographic and vectocardiographic findings in Friedreich's ataxia. 100 Apr 16

The majority of patients with Friedreich ataxia present with gait ataxia. Congestive heart failure usually is a terminal event. We report a 9-year-old boy who developed congestive heart failure and thrombus formation in the left ventricle at age 5 years and then progressive ataxia as well as other features of Friedreich ataxia; therefore, congestive heart failure and thrombus formation may rarely be the initial findings in Friedreich ataxia.
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PMID:Congestive heart failure and cardiac thrombus as first presentations of Friedreich ataxia. 138 25

This is a clinical report of a rare case of Charcot-Marie-Tooth disease associated with dilated cardiomyopathy. A seventy-seven-year-old Japanese male first visited our outpatient clinic with a ten-year history of muscular weakness in his bilateral lower extremities and gait disturbance characterized by classical features of peroneal muscular atrophy and inverted champagne bottle legs. Biopsy findings of the m. quadriceps femoris and the n. gastrocnemius revealed clustered atrophy of myofibrils and segmental demyelinization mingled with remyelinization. Because of his other problem of dilated cardiomyopathy, he had been treated with salt restriction, digitalis, diuretics and vasodilators, until his third hospitalization, when he developed terminal stage of severe congestive heart failure. Despite our intensive cardiac care, the patient died because of profound pump failure. Autopsy findings disclosed a remarkably dilated left ventricular chamber and an increased total heart weight of 600 grams. Grossly, the cross sectional view of the left ventricle revealed diffuse, but not homogenous fibrosis that was most prominent in the posterior wall. On light microscopic examination, the left ventricular myocardium revealed diffusely scattered muscular degeneration interlaced with fibrosis. Although large epicardial coronary arteries revealed only mild intimal atheromatous thickening, most of the small intramuscular coronary arteries were free from atherosclerosis. Neither diabetic nor amyloid lesions could be detected. It has been well known that cardiomyopathy is often associated with various forms of muscular dystrophy and Friedreich's ataxia.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Charcot-Marie-Tooth disease associated with dilated cardiomyopathy: an autopsy case report]. 204 12

Many metabolic diseases result in pathological changes within the cardiovascular system, often with the most severe effects on the function of the heart and great vessels. Metabolic disorders affecting the heart include disorders of amino acid metabolism, storage diseases, neuromuscular diseases, diseases of metal and pigment metabolism, carnitine deficiency, and connective tissue disorders. Several inborn errors of metabolism may involve the myocardium due to the accumulation of abnormal metabolites in the myocardial cells. In addition, the heart valves and coronary vessels may be involved. If the predominant effect is in the myocardial cell, it will be manifested clinically as a cardiomyopathy. Some disorders, in particular oxalosis, may involve the conduction system as a result of the deposition of oxalate crystals and result in conduction disturbances such as in alkaptonuria, primary oxalosis, and homocystinuria. Myocardial involvement may result in cardiomyopathy of the three functional types: (1) congestive, as in Fabry's disease, (2) hypertrophic, as in glycogen storage disease, type II, or (3) restrictive, as in Gaucher's disease. In the storage disease severe valvular as well as myocardial involvement occur predominantly in the glycogen storage diseases, types II-IV, mucolipidoses, sphingolipidoses, and neuronal ceroid lipofuscinosis. There are a variety of neuromuscular disorders that may be associated with cardiomyopathy, including the muscular dystrophies, Friedreich's ataxia, and Kugelberg-Welander syndrome. The pathological features of these conditions are not specific, but result usually in a congestive form of cardiomyopathy. Patients with metal and pigment metabolic disorders include iron storage disease, either hemochromatosis or transfusional hemosiderosis, Menkes' kinky hair syndrome, and Dubin-Johnson syndrome. Either a restrictive or a congestive form of cardiomyopathy may occur. The systemic form of carnitine deficiency is an autosomal recessive disorder and may present as a cardiomyopathy with congestive heart failure and lipid accumulation in the myocardial cells. Connective tissue disorders are generalized diseases that may involve the heart and valvular tissue, but also the blood vessels. These include Marfan's syndrome, Ehlers-Danlos syndrome, osteogenesis imperfecta, and pseudo-xanthoma elasticum.
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PMID:The effects of metabolic diseases on the cardiovascular system. 333 40

The systolic and diastolic function of both ventricles was assessed by radionuclide angiography in 21 patients with Friedreich's ataxia and hypertrophic cardiomyopathy. The indices of systolic function of the two ventricles and those of diastolic function of the right ventricle were generally normal. But in patients with Friedreich's ataxia the time to peak filling rate divided by the diastolic time of the left ventricle was significantly larger than normal. The increase correlated with the heart rate (r = 0.79) and this suggests an alteration in the timing of ventricle filling that is more evident at high heart rates. Movement of the left ventricle was little impaired; however, in 48% of the patients with Friedreich's ataxia the right ventricle showed evidence of hypokinetic segments. Because there is a tendency for congestive heart failure to develop in patients with Friedreich's ataxia, this hypokinesis of the right ventricle should be monitored at follow up.
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PMID:Biventricular function in Friedreich's ataxia: a radionuclide angiographic study. 339 28

Abnormalities of the heart are a frequent and possibly ubiquitous problem in patients with Friedreich's ataxia, but their pathogenesis is unclear. Postmortem findings are reported from the hearts of three patients with Friedreich's ataxia who died of congestive heart failure and atrial arrhythmias. Particular attention was paid to the following: the large and small coronary arteries, the nerves and ganglia, the conduction system, and the histological and cellular features of the cardiomyopathy. There were pleomorphic nuclei and focal fibrosis and degeneration throughout each heart including the conduction system. There were distinctive abnormalities of both large and small coronary arteries, and focal degeneration of nerves and ganglia. These observations suggest a mosaic concept for the pathogenesis for the cardiomyopathy of Friedreich's ataxia that involves the interplay of molecular faults, cardiomyopathy, cardioneuropathy, and coronary disease.
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PMID:Coronary disease, cardioneuropathy, and conduction system abnormalities in the cardiomyopathy of Friedreich's ataxia. 359 15

The authors report the case of a 21 year old woman admitted to hospital for congestive cardiac failure due to concentric hypertrophic cardiomyopathy. Echocardiography showed severe systolo-diastolic left ventricular dysfunction without obstruction to ejection. Neurological examination showed a stato-kinetic cerebellar syndrome, a posterior radiculo-cordonal syndrome and a dysmorphic syndrome which characterise Friedreich's disease. In the light of this case and a review of the literature, the authors underline the rarity of cardiomyopathy in Friedreich's disease, its particular presentation and its poor prognostic significance in this disease.
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PMID:[Hypertrophic cardiomyopathy disclosing Friedreich's disease. Report of a case]. 1462 38

Cardiac involvement is common in Friedreich's Ataxia and is a common cause of premature death. Evidence regarding treatment of congestive heart failure in patients with Friedreich's Ataxia is lacking. The case of a 31-year-old male with advanced Friedreich's Ataxia who presented with an acute diarrhoeal illness and features of acute heart failure is discussed. We then review the reported cardiac manifestations of Friedreich's Ataxia and discuss management options.
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PMID:Friedreich's ataxia cardiomyopathy: case based discussion and management issues. 2048 16

Friedreich ataxia is a neurodegenerative disease characterized by gait abnormalities, cardiomyopathy, and diabetes. Congestive heart failure was recently reported as the most frequent cause of Friedreich ataxia mortality. Cardiac dysfunction is suspected to result from a frataxin deficiency that leads to oxidative damage in cardiac tissues and possible metabolic syndrome characteristics. In this report, we describe 2 patient cases whose cardiac function worsened dramatically in the presence of underlying endocrinopathies. We report on one Friedreich ataxia teenager with previously undiagnosed diabetes that resulted in diabetic ketoacidosis and rapid progression to severe left ventricular dysfunction. We also describe a Friedreich ataxia teenager whose underlying Graves disease led to rapid worsening of known cardiomyopathy. Cardiac management and treatment for the endocrinopathies returned cardiac function to baseline. We conclude that screening for and awareness of underlying endocrinopathies in Friedreich ataxia may provide novel therapeutic targets for preventing Friedreich ataxia-associated cardiac dysfunction.
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PMID:Cardiac dysfunction exacerbated by endocrinopathies in Friedreich ataxia: a case series. 2240 41


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