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)

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.
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PMID:Friedreich's disease--a family study. 92 20

Clinical, electrocardiographic and echocardiographic 5-year follow-up was performed in our institution on 61 patients with Friedreich's ataxia. Cardiac failure was evident in 5% of the patients, and was the most common cause of death. Cardiac arrhythmias, most commonly supraventricular in origin, usually occurred together with the onset of cardiac failure and in 1 case resulted in sudden death. ST-T abnormalities were present in 91% of the cases, and were independent from other clinical parameters. On the contrary, pseudonecrotic (5%) and right ventricular hypertrophy pattern were associated with a poor prognosis. Left ventricular hypertrophy was evident at the echocardiogram in 75% of cases and remained unchanged throughout the entire follow-up period. In 1 case left ventricular hypertrophy turned to dilative cardiomyopathy. Autopsy was performed in 2 out of 4 decreased patients and revealed massive interstitial fibrosis with cellular degeneration in the absence of coronary lesions.
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PMID:[Progression of cardiopathology in Friedreich ataxia: clinico-instrumental study]. 214 3

We describe the anaesthetic management of a 20 years old female with a Friedreich's ataxia for curettage of the uterus. After the premedication with thalamonal, diazepam and atropine the anaesthesia was induced with thiopental. Isoflurane and nitrous oxide were used for maintenance. We review the literature about this disease and its implications in anaesthesia. Anesthetic hazards to the patient with Friedreich's ataxia include potential risk of cardiac dysrhythmias and heart failure and also marked sensitivity to muscle relaxants. Respiratory complications and diabetes mellitus are other main problems in postoperative period. We conclude that this patients should be careful monitored specially cardiovascular function and neuromuscular transmission during and after anaesthesia.
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PMID:[Anesthetic management in a case of Friedreich's ataxia]. 268 72

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.
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PMID:Spectrum of cardiac involvement in Friedreich's ataxia: clinical, electrocardiographic and echocardiographic observations. 294 67

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.
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PMID:Progression of hypertrophic into a dilated left ventricle in Friedreich's ataxia. 323 61

The purpose of this study was to characterize the heart in patients with Friedreich's ataxia by two-dimensional echocardiography, systolic time intervals, and heart biopsy. Ten patients with Friedreich's ataxia (seven females and three males, age 15 +/- 7 years) were compared with 10 age-matched normal subjects (five males and five females, age 16 +/- 7 years). The mean systolic blood pressure in the patients with Friedreich's ataxia was lower (114 +/- 9 mm Hg) than that in the control subjects (122 +/- 8 mm Hg; p less than 0.05); diastolic blood pressures were the same. The heart rate in the patients with Friedreich's ataxia (102 +/- 17 beats/minute) was greater than that in the control subjects (76 +/- 12 beats/minute; p less than 0.001). The interventricular septal wall thickness was much greater in Friedreich's ataxia (13 +/- 2 versus 8 +/- 1 mm, p less than 0.001) as was the posterior wall thickness (13 +/- 3 versus 8 +/- 1 mm, p less than 0.001). The left ventricular end-diastolic diameter was smaller in Friedreich's ataxia (35 +/- 6 mm versus 47 +/- 6 mm; p less than 0.01), and the fractional change of the left ventricular minor axis with systole was greater in Friedreich's ataxia (40 +/- 9 percent versus 33 +/- 5 percent; p less than 0.05). An 11th patient with Friedreich's ataxia (age 33) had clinical heart failure, but his course was complicated by alcohol abuse. Heart biopsy in three patients with Friedreich's ataxia demonstrated myocyte hypertrophy (21.5 +/- 2.0 microns diameter; normal, 14 to 17 microns) and increased fibrosis (16 +/- 9 percent; normal, less than 5 percent). Thus, heart disease in Friedreich's ataxia is characterized by myocyte hypertrophy, interstitial fibrosis, increased left ventricular wall thickness, decreased left ventricular cavity size, sinus tachycardia, and normal systolic function. Further biochemical analysis of tissues may lead to the link of the neurologic and cardiac diseases and eventually to more effective therapy of this condition.
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PMID:Morphologic and functional characteristics of the heart in Friedreich's ataxia. 379 93

A study of 82 fatal cases of Friedreich's ataxia showed that over half the patients died of heart failure while nearly three-quarters had evidence of cardiac dysfunction during life. A high incidence of diabetes mellitus (23%) was another finding, and four patients developed diabetic ketosis terminally.
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PMID:Study of fatal cases of Friedreich's ataxia. 567 14

One hundred and fifteen patients with carefully defined Friedreich's ataxia were assessed clinically and electrocardiographically for evidence of heart disease. Cardiac symptoms, of which dyspnoea and palpitations were the most frequent, occurred in less than 30 per cent. Abnormalities on clinical examination were present in a similar proportion; harsh systolic murmurs, ventricular hypertrophy and added heart sounds were the commonest of these. Cardiac failure and persistent arrhythmias were rare and occurred late in the evolution of the neurological disease. Two patients presented with heart disease before developing neurological symptoms. Cardiac signs and symptoms were uncommon in patients without electrocardiographic abnormalities. About two-thirds of the cases had definitely abnormal ECG recordings. The characteristic finding was of widespread T-wave inversion with ventricular hypertrophy. Serial ECGs, recorded over periods of up to 32 years, were available in 30 cases and showed that abnormalities may develop in patients with Friedreich's ataxia at any time up until 20 years after the onset of neurological symptoms. In four patients initial ECG abnormalities had either improved or disappeared subsequently.
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PMID:The heart disease of Friedreich's ataxia: a clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases. 622 49

Idebenone, a synthetic analogue of coenzyme Q10, has been shown to improve cardiac function in patients with Friedreich ataxia and a deficiency of respiratory chain complexes I-III. We describe a woman with severe combined right and left heart failure due to a mitochondrial cardiomyopathy. The patient underwent an endomyocardial biopsy as part of an evaluation for cardiac transplantation. It showed severely decreased respiratory complex activities dependent on CoQ, pointing to CoQ depletion. Following idebenone treatment there was a dramatic improvement in her clinical status with resolution of the heart failure.
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PMID:Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone. 1128 79

Hypertrophic cardiomyopathy is a Mendelian disease characterized by cardiac hypertrophy. It has a prevalence of 1:500 individuals and is the most common cause of sudden death in the young. Other complications include heart failure and the need for heart transplantation. Hypertrophic cardiomyopathy is due to sarcomeric gene mutations, however, phenocopies with myocardial hypertrophy can be due to triplet-repeat syndromes (Friedreich ataxia and myotonic dystrophy), mitochondrial and metabolic diseases. In a peculiar form associated with Wolf-Parkinson-White syndrome, the disease is caused by mutations in the gamma2 regulatory subunit of the AMP-activated protein kinase gene, leading to a glycogen storage cardiomyopathy. In spite of the growing knowledge about the molecular basis of hypertrophic cardiomyopathy, very little is still known about the genotype-phenotype correlations and their clinical implications. In this review, the clinical and molecular genetics of hypertrophic cardiomyopathy are described.
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PMID:Familial hypertrophic cardiomyopathy: clinical features, molecular genetics and molecular genetic testing. 1471 53


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