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

The Authors describe a case of Friedreich's ataxia complicated by an unusual arrhythmia, torsade de pointes, the only manifestation of cardiac involvment in this patient. Then some hypothesis of etiopathogenetic mechanism of this rhythm disturbance in patients affected with Friedreich's ataxia are proposed.
G Ital Cardiol 1979
PMID:[A rare case of Friedreich's atoxia with cardiac involvement: the torsade de pointe (author's transl)]. 48 98

Friedreich's disease occurring in 4 male siblings in a sibship of seven caused cardiac and neurological abnormalities and one twin of an affected member died in cardiac failure; at autopsy characteristic pathological features of Friedreich's disease were demonstrated in the nervous system and heart. One female sibling had a patent ductus arteriosus which was treated surgically and a continuous murmur was present in another sister but cardiac catheterization in childhood had been normal.
Eur J Cardiol
PMID:Friedreich's disease--a family study. 92 20

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.
G Ital Cardiol 1986 Jan
PMID:[Cardiac involvement in Friedreich's heredo-ataxia]. 294 Jan 41

To establish the prevalence and to characterize the types of cardiac involvement in Friedreich's ataxia, 75 consecutive patients (39 male and 36 female), aged 10 to 66 years (mean 24) were prospectively studied. Electrocardiograms were performed in all patients, vectorcardiograms in 34 and echocardiograms in 58. Electrocardiographic and vectorcardiographic abnormalities occurred in 69 (92%) of the 75 patients. Electrocardiograms revealed ST-T wave abnormalities in 79%, right axis deviation in 40%, short PR interval in 24%, abnormal R wave in lead V1 in 20%, abnormal inferolateral Q waves in 14% and left ventricular hypertrophy (voltage and repolarization criteria) in 16%. Echocardiograms revealed concentric left ventricular hypertrophy in 11%, asymmetric septal hypertrophy in 9% and globally decreased left ventricular function in 7%. Progression from a normal echocardiogram to concentric left ventricular hypertrophy, asymmetric septal hypertrophy or globally decreased left ventricular function was identified in one patient in each category, although the study was not designed for longitudinal follow-up. Two patients died, and necropsy revealed in both a minimally dilated but flabby left ventricle. On the basis of electrocardiographic and vectorcardiographic and echocardiographic data, 95% of patients had one or more disorders. The most common abnormality was segmental myocardial "dystrophy" (electrocardiographic QRS initial force abnormalities), but global left ventricular hypokinesia occurred more often than previously recognized.(ABSTRACT TRUNCATED AT 250 WORDS)
J Am Coll Cardiol 1986 Jun
PMID:Cardiac involvement in Friedreich's ataxia: a clinical study of 75 patients. 294 Feb 84

Combined 2-dimensional and M-mode echocardiography was used to assess the cardiac status of 22 patients with Friedreich's ataxia, and the findings were correlated with the clinical and electrocardiographic (ECG) data. Mean age at onset of Friedreich's ataxia was 8 years (range 3 to 18); mean age at echocardiography was 18 years (range 8 to 39). Echocardiographic findings were abnormal in 19 patients (86%). The 3 patients with normal echocardiographic findings did not have cardiac symptoms, but 1 had ECG repolarization abnormalities. Concentric left ventricular (LV) thickening, the most common echocardiographic finding, was found in 15 patients (68%) and in all 15 the papillary muscles were thickened. These 15 patients had ECG repolarization abnormalities and 5 had left-axis deviation; however, only 3 satisfied ECG criteria for LV or right ventricular hypertrophy. Two of the 15 patients (9%) had symptoms of heart failure. Two patients had asymmetric septal thickening without clinical evidence of LV outflow tract obstruction; neither had cardiac symptoms, but both had ECG repolarization abnormalities. Two patients showed a dilated cardiomyopathy pattern; both had heart failure and atrial flutter. One of these patients died, and necropsy revealed 4-chamber cardiac dilatation, biventricular hypertrophy and histologic findings of diffuse interstitial fibrosis, myocellular hypertrophy and necrosis. This study revealed a wide spectrum of cardiac abnormalities in patients with Friedreich's ataxia.
Am J Cardiol 1986 Sep 01
PMID:Spectrum of cardiac involvement in Friedreich's ataxia: clinical, electrocardiographic and echocardiographic observations. 294 67

Cardiac involvement in Friedreich's disease is classically a hypertrophic myocardiopathy, concentric or assymmetrical with or without dilatation. It has nothing specific in comparison to other myocardiopathies. Nevertheless, forms with a dilated myocardiopathy are also possible, but much more unfrequent. A propos of three cases, we have studied the different aspects of myocardiopathies in Friedreich's ataxia. The problem raised by the case of an hypertrophic myocardiopathy evolving toward a dilated form, unusual element of this pathology, is presented. The therapeutic potential of hypertrophic myocardiopathies is classically represented either by beta-blockers or by the more recent slow calcium inhibitors.
Ann Cardiol Angeiol (Paris) 1987 Jan
PMID:[Myocardiopathies of Friedreich's disease]. 295 Aug 21

The authors describe the case of a girl who developed Friedreich's ataxia at, approximately, the age of 7, with evidence of cardiac involvement being detected by electrocardiography and echocardiography at a later date. Cardiac function was moderately impaired and remained unchanged for a number of years, during which a picture of hypertrophic left ventricle seemed to be firmly established. Later still, however, the cardiac situation shifted gradually toward a hypokinetic form of the disease, with a progressive thinning of the interventricular septum and posterior wall of the left ventricle, associated enlargement of the ventricular chambers and increasingly severe hypokinesia leading to repeated episodes of heart failure.
G Ital Cardiol 1988 Jul
PMID:Progression of hypertrophic into a dilated left ventricle in Friedreich's ataxia. 323 61

Three male children with Friedreich's ataxia, from a single family, are described. The first patient presented as a cardiologic problem with anginalike chest pain. He was found to have echocardiographic evidence of concentric left ventricular hypertrophy (LVH). He later developed ataxia. The younger brother also had LVH but was asymptomatic and later became ataxic. The elder brother was already ataxic at the time of diagnosis. To our knowledge this is the first report of echocardiographic concentric left ventricular hypertrophy preceding the neurologic syndrome of Friedreich's ataxia.
Pediatr Cardiol 1985
PMID:Friedreich's ataxia presenting as cardiac disease. 404 Feb 39

A rare patient with Friedreich's ataxia and hypertrophic obstructive cardiomyopathy who showed evidence of coronary artery vasospasm on ambulatory electrocardiographic monitoring is presented.
Clin Cardiol 1985 Oct
PMID:Friedreich's ataxia associated with hypertrophic cardiomyopathy and coronary vasospasm. 405 33

The association between Friedreich's ataxia and heart disease is well known. Microvascular disease and spasm of coronary arteries have been reported. We report now a patient with the association between this disease and acute myocardial infarction, which raises the hypothesis that it may be related with the already known cardiac abnormalities in this disease.
Rev Esp Cardiol 1995 Feb
PMID:[Acute myocardial infarct and Friedreich's disease]. 788 66


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