Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
Arch Mal Coeur Vaiss 1978 Apr
PMID:[The myocardiopathies of hereditary neuro-muscular diseases]. 9 58

The authors performed ambulatory electro-vectorcardiography polycardiography and echocardiography in 18 patients with typical Friedreich's disease, and 6 patients with atypical forms of hereditary spino-cerebellar ataxia classified on e basis of the degree of neurological involvement, without clinical signs of cardiocirculatory failure. The ECG and VCG recording commonly showed appearances suggestive of myocardial "necrosis" and were of little value in the differential diagnosis between typical and atypical forms of Friedreich's ataxia. This limitation also applied to the kinetocardiogramme which was sometimes pathological confirming the echocardiographic diagnosis of symmetric LV hypertrophy and of septal hypokinesia despite normal ECG and VCG. The systolic time intervals and echocardiographic parameters of the interventricular septum were more helpful in the differential diagnosis. Hypertrophic cardiomyopathy, usually symmetric, was observed in about 70 p. 100 of typical and only rarely in atypical forms of Friedreich's disease. The symmetric or asymmetric hypertrophy was associated with reduced left ventricular performance in less than 20 p. 100 of typical Friedreich's disease, systolic anterior motion of the mitral valve and other signs of dynamic left ventricular outflow tract obstruction were not observed in any of these patients. The correlations between the degree of neurological disability and the cardiac abnormalities, were, in general, disappointing compared with other reported series. The cardiac investigation of patients with Friedreich's disease remains valuable from the point of view of recent pathological hypotheses of a metabolic abnormality with eventual therapeutic implications.
Arch Mal Coeur Vaiss 1982 May
PMID:[Cardiologic aspects of Friedreich type heredoataxia]. 621 30

Paediatric cardiology is a dynamic field of progress for results. Those which have marked the year 1999 include the introduction of new techniques of cardiovascular imaging and interventional cardiology, and the new consequences of collaboration with workers in foetal cardiology and medical and molecular genetics. The advances in imaging are the result of those of microprocessors which enable three-dimensional reconstruction of ultrasonic, radiological or magnetic resonance images. This provides intracardiac or intravascular views which are very similar to those seen by the surgeon. This is a major tool for improving the diagnosis and treatment of congenital heart disease. Similarly, the introduction of programmes of tissue recognition enables fine ultrasonic analysis of the vascular wall and of endothelial function leading to the opening of a new chapter of preventive vascular medicine from the earliest age. Paediatric interventional cardiology has also progressed rapidly and the past year has been that of a consensus on the closure of a great number of atrial septal defects by new prostheses implanted and anchored in a simpler and safer manner. Prenatal diagnosis has become a crucial factor in the treatment and prognosis of congenital heart disease which is life-threatening in the first hours of life, explaining the benefit when this is applied to transposition of the great vessels or to coarctation of the aorta. Finally, advances in genetics have led to the identification of several genes of heart malformations and the correlations between interstitial microdeletions and syndromes often associated with heart disease: chromosome 22q11 and the Di George syndrome, chromosome 7q and the Williams syndrome. They have even allowed linking of myocardial and cerebellar abnormalities of a degenerative neuropathy (Friedreich's disease) to an abnormality of the mitochondrial respiratory chain, thus giving the opportunity of a real treatment.
Arch Mal Coeur Vaiss 2000 Jan
PMID:[The best of pediatric cardiology in 1999]. 1072 49

The year 2000 was rich in events, either spectacular news or confirmed improvement of on-going advances, as far as paediatric cardiology is concerned. The selection presented by the authors includes the first percutaneous implantation in a human being of a biological (bovine) valve which was sewn on a stent, compressed into a catheter and inserted against a stenotic and leaking procine bioprosthesis in a right-ventricle to pulmonary-artery conduit. This may be a new way to further valve replacements as alternatives to surgery. Balloon dilation of late postoperative recoarctations is now also improved with the use of stents able to maintain the result and to avoid traumatic injuries, with new coaxial double balloons making the procedure easier and safer. This is probably one of the main elements in reducing this very particular form of hypertension, the anatomic cause of which is often difficult to understand. As for yesterday's daring innovations now becoming near-routine protocols, two examples are developed. First, the rehabilitation of pulmonary arteries in pulmonary atresia with ventricular septal defect and complex pulmonary blood supply, both by true pulmonary vessels and by collaterals, both being stenotic and/or hypoplastic, anastomosed or not. The anatomic and functional details of such a vascular setting should be accurately understood and treated by early and aggressive surgery and interventional procedures in order to promote antegrade flow, distal angiogenesis, and, finally, active and harmonious vascular growth compatible with complete repair. The second example is Friedreich's ataxia in which, within 3 years of the discovery of the pathogenic mechanism, the deficiency in frataxin and its intra-cellular toxic consequences have been demonstrated, leading to a logical medical therapy which proves to be effective in treating (and maybe in preventing) the severe hypertrophic cardiomyopathy associated to this disease.
Arch Mal Coeur Vaiss 2001 Jan
PMID:[The best in 2000 on pediatric cardiology]. 1126 Aug 39

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.
Arch Mal Coeur Vaiss 2003 Feb
PMID:[Hypertrophic cardiomyopathy disclosing Friedreich's disease. Report of a case]. 1462 38