Echocardiographic Findings in Friedreich's Ataxia

Gattiker, H; Davignon, A; Bozio, A; Batlle-Diaz, J.; Geoffroy, G.; Lemieux, B.; Barbeau, A.

doi:10.1017/s0317167100025543

Cited by 31 publications

(5 citation statements)

References 4 publications

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“…Cardiac abnormalities predominantly involving hypertrophy have been common observations in patients with FRDA. Concentric LV hypertrophy was found in 19 of 22 FRDA patients,10 and an early study reported 90% of patients with FRDA showed varying degrees of septal hypertrophy and free wall hypertrophy as well as some reduction in cavity size 20. However, as in this study, the degree of hypertrophy did not reach the severity seen in conditions like HOCM, and the number of patients with severe hypertrophy was relatively small 8, 21.…”

Section: Discussioncontrasting

confidence: 54%

Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia

et al. 2010

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Friedreich's ataxia (FRDA) has been associated with both cardiac hypertrophy and to a lesser degree dilated cardiomyopathy. We have conducted a cross sectional magnetic resonance imaging (MRI) study of 25 patients with clinically and genetically confirmed FRDA and 24 healthy controls to analyse how disease parameters influence cardiac features in FRDA. MR cine imaging in the long and short axis planes was performed alongside clinical assessments. LV mass was most pronounced in FRDA patients with a larger genetic mutation (GAA1 repeats >600), earlier age of onset (<16years) and a shorter disease duration (<15 years). LV mass decreased with longer disease duration (>15 years), and independent of GAA1 repeat size and age of onset, suggesting cardiac thinning occurred with prolonged disease. Heart function was lower in patients with larger GAA1 repeat number and longer disease duration. Consequently, cardiac hypertrophy was more marked in FRDA patients with a larger GAA1 repeat number and younger age of onset, while prolonged disease duration was associated with lower LV mass and decreased heart function. It is important not only to understand the biochemical basis for these cardiac changes but also allow for these changes when assessing the effect of treatment of FRDA patients.

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Section: Discussioncontrasting

confidence: 54%

Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia

et al. 2010

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“…Previous papers in this series have clearly delineated the clinical (Cote et al, 1976a;Cote et al, 1979), electrical (Malo et al, 1976;Gattiker et al, 1976), hemodynamic (Cote et al, 1976b), pathological (Sanchez-Casis et al, 1976) and pharmacological (Huxtable, 1978) aspects of the cardiomyopathy. In the present issue, Pasternac and collaborators reviewed the findings in homozygotes, heterozygotes and carriers of the Friedreich's ataxia gene.…”

Section: (D) Cardiomyopathymentioning

confidence: 79%

Friedreich's Ataxia 1980 An Overview of the Physiopathology

Barbeau

1980

Can. j. neurol. sci.

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SUMMARY:Phase three of the Quebec Cooperative Study of Friedreich's Ataxia was devoted to an understanding of the physiopathology of individual symptoms on the basis of previously discovered biochemical leads. The present paper attempts to pull these results together by presenting, as a hypothesis, a unifying scheme of possible interactions and relationships. The central core of this hypothesis is the demonstration in Friedreich's ataxia of a state of mitochondrial energy deprivation. This is indirectly responsible for such associated and important symptoms as muscle weakness, dying-back neuropathy, scoliosis and hypertrophic cardiomyopathy. Secondarily, and possibly as an independent but linkedevent, the entry of glucose into cells and pyruvate oxidation, are slowed down, favoring the development of diabetes. As a consequence, tissue concentrations of glutamic acid and aspartic acid are decreased, particularly in more vulnerable areas such as the cerebellum, brain stem and dorsal root ganglia. This tissue deficiency in putative excitatory neurotransmitters is directly responsible for the symptom of ataxia. This conclusion is reinforced by the correction of the ataxia in glutaexperimental animals, by the intraventricular injection of the same amino acids, and not by the injection of other stimulants of motricity. The observed mitochondrial energy deprivation could be the metabolic consequence of major changes in the linoleic acid (18:2) composition of inner mitochondrial membrane phospholipids, such as cardiolipin. Such decreases in membrane 18:2 could be the result of interference with the normal incorporation of this fatty acid to lipoproteins and/or cell membranes. It is at this level that the search for the specific enzyme defect in Friedreich's ataxia is continuing.

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“…Cardiological abnormalities are less frequent in Italian than in Canadian ataxics (Malo et al, 1976;Gattiker et al, 1976). However, these abnormalities are of the same kind.…”

Section: Discussionmentioning

confidence: 92%

Friedreich's Ataxia in the South of Italy : A Clinical and Biochemical Survey of 23 Patients

Campanella¹,

Filla²,

DeFalco³

et al. 1980

Can. j. neurol. sci.

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SUMMARY:We report a clinical and biochemical survey of 23 patients with Friedreich's ataxia from southern Italy. They were studied clinically and by means of a clinical rating scale devised by us (Inherited Ataxias Clinical Rating Scale). Laboratory tests, based on the Quebec Cooperative Study, were also performed on our patients. No major clinical or biochemical differences were found between Italian and Canadian patients. Investigation of CSF monoamine metabolites showed that HVA decreased after probenecid and metoclopramide loading

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Echocardiographic Findings in Friedreich's Ataxia

Cited by 31 publications

References 4 publications

Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia

Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia

Friedreich's Ataxia 1980 An Overview of the Physiopathology

Friedreich's Ataxia in the South of Italy : A Clinical and Biochemical Survey of 23 Patients

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