The heart in Friedreich's ataxia.

Hewer, R L

doi:10.1136/hrt.31.1.5

Cited by 107 publications

(51 citation statements)

References 11 publications

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“…[1][2][3][4][5][6] The changes in the left ventricle (LV) consist mainly of cellular hypertrophy, diffuse fibrosis, and focal myocardial necrosis. 7 Our recent findings 8 are in accord with other reports [1][2][3][4][5][6] that the LV hypertrophy (concentric, asymmetrical, or both) and thickening of the papillary muscles are variable in FRDA. The most common echocardiographic abnormality is asymmetrical LV hypertrophy and thickening of the papillary muscles, although the range of abnormalities appears to be wide.…”

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confidence: 91%

Echocardiographic Characterization of Cardiomyopathy in Friedreich’s Ataxia With Tissue Doppler Echocardiographically Derived Myocardial Velocity Gradients

et al. 2000

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Background —Conventional and tissue Doppler echocardiographically derived myocardial velocity gradients (MVGs) were used to characterize the myocardium in patients with Friedreich’s ataxia (FRDA), and the relationship between MVGs and the mutation in the FRDA gene, a GAA triplet repeat expansion, was investigated. Methods and Results —We studied 29 patients with FRDA (10 men, mean age 31±9 years) who were homozygous for the GAA expansion in the FRDA gene and were without cardiac symptoms. A comparison was made with a group of 30 age-matched control subjects. In patients with FRDA, interventricular septal thickness (1.17±0.26 versus 0.85±0.13 cm, P <0.005), posterior left ventricular wall thickness (1.00±0.24 versus 0.88±0.15 cm, P <0.01), and left atrial diameter (3.3±0.5 versus 2.9±0.3 cm, P =0.01) were increased compared with control subjects. MVGs were reduced in FRDA during systole (3.1±1.2 versus 4.5±0.5 s −1 , P <0.0001) and in early diastole (4.9±2.7 versus 8.8±1.8 s −1 , P <0.0001) but increased in late diastole (2.0±1.3 versus 1.1±0.9 s −1 , P <0.01). The strongest relationship was seen between age-corrected early diastolic MVGs and the GAA expansion in the smaller allele of the FRDA gene ( r =−0.68, P <0.0001). Conclusions —MVGs offer a means of further characterizing the myocardial abnormalities in patients with FRDA. Early diastolic MVGs appear to relate most closely to the genetic abnormality and the consequential reduction in frataxin protein.

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confidence: 91%

Echocardiographic Characterization of Cardiomyopathy in Friedreich’s Ataxia With Tissue Doppler Echocardiographically Derived Myocardial Velocity Gradients

et al. 2000

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“…They suggested that this finding could be used as a marker of the disease as it was not found in other forms of spinocerebellar degeneration . Although cardiac symptoms occur [8] and cardiac failure is a common terminal event [5], there is little in the literature on patients presenting with cardiac disease and later developing ataxia . We find no reports of the echocardiographic features anteceding the development of the neurologic syndrome .…”

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confidence: 99%

Friedreich's ataxia presenting as cardiac disease

1985

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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.

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“…Für viele hypertrophe Kardiomyopathien liegen, wenn auch nicht zusammenfassend dargestellt, typische Beschreibungen dieser Kenngrößen vor [1,2,3,4,5,6,7,8,9,10,11].…”

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Verschiedene Formen der linksventrikulären Hypertrophie

Weidemann

Störk

Herrmann

et al. 2011

Herz

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Left ventricular hypertrophy is a non-specific physiological or maladaptive cardiac response to a large array of stimuli mediated by exercise and numerous cardiac and systemic diseases. The precise characterization and quantification of left ventricular hypertrophy may allow a more timely diagnosis of the underlying condition. The clinical reference standard to assess left ventricular hypertrophy is echocardiography, but a comprehensive description of how to approach this frequent finding in clinical practice is lacking. The current review systematically describes the typical echocardiographic patterns of important types of cardiac hypertrophy using both established and advanced imaging modalities. In hypertrophic obstructive cardiomyopathy a markedly reduced regional systolic function is found in the prominent thickened septum, whereas in essential arterial hypertension a typical concentric left ventricular hypertrophy with a less prominent basal septal bulge is present. The echocardiographic characteristics of cardiac amyloidosis are ventricular hypertrophy with sparkling granular myocardial texture and a small epicardial effusion. In addition, the strain rate curve for longitudinal function shows a typically reduced function which reaches maximum already in early systole. The typical feature of Friedreich cardiomyopathy is concentric left ventricular hypertrophy and sparkling granular texture with preserved regional systolic function. In Fabry cardiomyopathy a prominent papillary muscle is presented and a typical strain rate curve can be extracted from the basal lateral wall, indicating replacement fibrosis. Prominent hypertrabecularisation (ratio of non-compacted to compacted myocardium >2) in the apical and mid left ventricular segments is typical for non-compaction cardiomyopathy. Knowledge of these typical echocardiographic features enables the cardiologist to distinguish between the different hypertrophic entities, thus paving the way to early diagnosis.

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The heart in Friedreich's ataxia.

Cited by 107 publications

References 11 publications

Echocardiographic Characterization of Cardiomyopathy in Friedreich’s Ataxia With Tissue Doppler Echocardiographically Derived Myocardial Velocity Gradients

Echocardiographic Characterization of Cardiomyopathy in Friedreich’s Ataxia With Tissue Doppler Echocardiographically Derived Myocardial Velocity Gradients

Friedreich's ataxia presenting as cardiac disease

Verschiedene Formen der linksventrikulären Hypertrophie

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