Biventricular function in Friedreich's ataxia: a radionuclide angiographic study.

B, Palagi; Picozzi, R; Casazza, Franco; Possa, M.; Magri, G; Zoccarato, Orazio; Graziano, E; Ferrari, Federica; Morpurgo, M

doi:10.1136/hrt.59.6.692

Cited by 8 publications

(4 citation statements)

References 13 publications

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“…Hypertrophy may progress to dilation with time giving the appearance by echocardiography that there is improvement of ventricular hypertrophy [54]. Earlier echocardiography and radionuclide studies have shown good systolic function of both ventricles but impaired diastolic filling [55–56]. These findings are consistent with the histological appearance of fibrosis in the left ventricular wall and suggest that there may be diastolic dysfunction in the FA heart.…”

Section: Clinical Findingsmentioning

confidence: 80%

The heart in Friedreich's Ataxia: Basic findings and clinical implications

Payne

2011

Progress in Pediatric Cardiology

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Friedreich’s Ataxia is the most common inherited ataxia in man. It is a mitochondrial disease caused by severely reduced expression of the iron binding protein, frataxin. A large GAA triplet expansion in the human FRDA gene encoding this protein inhibits expression of this gene. It is inherited in an autosomal recessive pattern and typically diagnosed in childhood. The primary symptoms include severe and progressive neuropathy, and a hypertrophic cardiomyopathy that may cause death. The cardiomyopathy is difficult to treat and is frequently associated with arrhythmias, heart failure, and intolerance of cardiovascular stress, such as surgeries. Innovative approaches to therapy, such as histone deacetylase inhibitors, and enzyme replacement with cell penetrant peptide fusion proteins, hold promise for this and other similar mitochondrial disorders. This review will focus on the basic findings of this disease, and the cardiomyopathy associated with its diagnosis.

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Section: Clinical Findingsmentioning

confidence: 80%

The heart in Friedreich's Ataxia: Basic findings and clinical implications

Payne

2011

Progress in Pediatric Cardiology

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“…RV function has not been a particular focus of research in FRDA, but there is a previous report that RV regional short-axis contraction can be impaired in FRDA despite preservation of both RV ejection fraction and LV ejection fraction [22]. On the other hand, a more recent study did not find any abnormality of RV long-axis function in FRDA, despite the presence of abnormalities of LV long-axis function [6].…”

Section: Discussionmentioning

confidence: 99%

Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia

et al. 2018

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BackgroundFriedreich ataxia (FRDA) is an autosomal recessive neurodegenerative condition which also has effects on the heart. In 96% of affected individuals FRDA is due to homozygosity of a GAA repeat expansion in intron 1 of the frataxin (FXN) gene. The number of GAA repeats have been shown to relate to disease severity in FRDA, this thought to be via an inverse relationship of GAA repeat number and cellular frataxin levels. We investigated the effects of FRDA on regional long axis function of the left and right ventricles, and also the relationship of long axis systolic (s`) and early diastolic (e`) peak velocities with GAA repeat number on the shorter (GAA1) and longer FXN alleles (GAA2).MethodsThe study group of 78 adult subjects (age 32±9 years) with FRDA and normal left ventricular (LV) ejection fraction were compared to 54 healthy control subjects of similar age, sex and body size. Tissue Doppler imaging (TDI) signals were recorded at the mitral annulus for measurement of s`and e`of the septal, lateral, anterior and inferior walls and at the tricuspid annulus for measurement of right ventricular (RV) s`and e`.ResultsAll the regional LV s`and e`, and both RV s`and RV e`, were lower in individuals with FRDA compared to controls (p<0.001 for all). On multivariate analysis, which included LV septal wall thickness (SWT), RV s`and RV e`were both inversely correlated with GAA1 (β = -0.32 & -0.33, respectively, p = 0.01), but not with GAA2, whereas anterior and lateral s`were both inversely correlated with GAA2 (β = -0.25 and β = -0.28, p = 0.02) but not with GAA1. Increasing SWT was the most consistent LV structural correlate of lower s`and e`, whereas age was a consistent inverse correlate of e`but not of s`.ConclusionThere are generalized abnormalities of both LV regional and RV long axis function in FRDA, but there are also regional differences in the association of this dysfunction with the smaller and larger GAA repeats in the FXN gene.

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“…Hypertrophy may progress to dilation in time, giving the appearance by echocardiography that ventricular hypertrophy has improved [33]. Earlier echocardiography and radionuclide studies demonstrated good systolic function of both ventricles but impaired diastolic filling [19, 56]. These findings are consistent with the histologic appearance of fibrosis in the LV wall and suggest that there may be diastolic dysfunction in the FA heart.…”

Section: Clinical Cardiac Findings In Famentioning

confidence: 80%

Cardiomyopathy of Friedreich’s Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development

2011

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Friedreich’s ataxia is a multisystem disorder of mitochondrial function affecting primarily the heart and brain. Patients experience a severe cardiomyopathy that can progress to heart failure and death. Although the gene defect is known, the precise function of the deficient mitochondrial protein, frataxin, is not known and limits therapeutic development. Animal models have been valuable for understanding the basic events of this disease. A significant need exists to focus greater attention on the heart disease in Friedreich’s ataxia, to understand its long-term outcome, and to develop new therapeutic strategies using existing medications and approaches. This review discusses some key features of the cardiomyopathy in Friedreich’s ataxia and potential therapeutic developments.

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Biventricular function in Friedreich's ataxia: a radionuclide angiographic study.

Cited by 8 publications

References 13 publications

The heart in Friedreich's Ataxia: Basic findings and clinical implications

The heart in Friedreich's Ataxia: Basic findings and clinical implications

Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia

Cardiomyopathy of Friedreich’s Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development

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