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)

Echocardiographic examination of 21 patients with Friedreich's ataxia (age 7 to 28 years) showed cardiac abnormalities in 90% of the cases. They were characterized by varying degrees of septal hypertrophy in 81%, left ventricular free wall hypertrophy in 61%, and a slight reduction of left ventricular internal dimension in 57% of the cases. Asymmetric septal hypertrophy (ASH) with a septal/left ventricular free wall ratio of over 1.3 was found in 29% of the cases, and systolic anterior motion (SAM) of the mitral valve in three patients. Two other patients showed evidence of a different type of cardiomyopathy with marked symmetric left ventricular hypertrophy and marked left ventricular enlargement.
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PMID:Echocardiographic findings in Friedreich's ataxia. 100 Apr 17

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)
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PMID:Cardiac involvement in Friedreich's ataxia: a clinical study of 75 patients. 294 Feb 84

We evaluated 15 patients with Friedreich's ataxia (FA) to define the incidence of myocardial involvement and the type of cardiomyopathy observed. All patients with FA had either ECG, vectocardiographic or echocardiographic abnormalities, suggesting some degree of myocardial involvement. In contrast to reports indicating that asymmetric septal hypertrophy (ASH), often obstructive, is associated with FA, symmetric, concentric hypertrophic cardiomyopathy (SCH) was the predominant abnormality (sixty-seven percent of patients). Echocardiograms should be performed periodically in all FA patients since this technique allows the detection of cardiac hypertrophy.
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PMID:Hypertrophic cardiomyopathy in Friedreich's ataxia: symmetric or asymmetric? 719 34

Echocardiography was performed on 11 patients with Friedreich's Ataxia. Eight of 11 had asymmetric septal hypertrophy and systolic anterior motion of the anterior leaflet of the mitral valve at rest or after inhalation of amyl nitrite. Two patients had concentric left ventricular hypertrophy. In view of this high incidence of hypertrophic cardiomyopathy, echocardiography is suggested as part of the routine evaluation of the patient with Friedreich's Ataxia.
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PMID:Case report: echocardiographic observations in patients with Friedreich's ataxia. 719 80

Left ventricular function was assessed in seven patients with Friedreich's ataxia using computer-assisted analysis of the left ventricular echocardiograms and compared with those of 45 normal children matched for age and sex. The left ventricle in Friedreich's ataxia was symmetrically hypertrophied, cavity dimension was normal or small, and septal motion and peak velocity of circumferential shortening were normal in all patients. In diastole the duration of rapid filling was normal, peak rate of increase in left ventricular dimension was reduced in two patients, mitral valve opening was delayed with respect to minimum cavity dimension in seven, and there were significantly greater than normal increases in left ventricular dimension during the isovolumic period to mitral valve opening in seven, indicating abnormal and incoordinate relaxation. Peak rates of posterior wall systolic thickening and diastolic thinning were reduced in four and six patients, respectively, whereas peak rates of septal systolic thickening and diastolic thinning were reduced in one and four, respectively, suggesting a disproportionately greater impairment of the posterior wall than of septal function. The absence of asymmetric septal hypertrophy and mid-systolic closure of the aortic valve, the presence of normal septal motion, and the greater reduction in posterior wall than in septal dynamics are inconsistent with previous ideas that the heart disease of Friedreich's ataxia is identical to hypertrophic cardiomyopathy. Computer-assisted analysis of echocardiograms permits recognition of heart disease in Friedreich's ataxia before the onset of cardiac symptoms or development of clinical signs of heart disease.
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PMID:Left ventricular function in Friedreich's ataxia. An echocardiographic study. 742 88

Twelve patients with Friedreich's ataxia (FA) were evaluated clinically and echocardiographically for evidence of heart disease. Electrocardiographic and echocardiographic abnormal findings were discovered in eight (67%) and seven (58%) children, respectively. A high incidence of cardiac involvement is well known in FA cases. Although the patient number in the present study is small, the findings are consistent with those in the literature. The most common pathology was asymmetric septal hypertrophy (ASH), followed by concentric left ventricular hypertrophy (CLVH) and dilated cardiomyopathy (DC).
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PMID:Heart disease in Friedreich's ataxia: a clinical and echocardiographic study. 884 May 35