Early Detection of Fabry Cardiomyopathy by Tissue Doppler Imaging
نویسندگان
چکیده
منابع مشابه
Early detection of Fabry cardiomyopathy by tissue Doppler imaging.
BACKGROUND Fabry cardiomyopathy is diagnosed by detection of left ventricular hypertrophy (LVH) in patients with alpha-Galactosidase A deficiency. Conventional noninvasive tools are unable to provide a preclinical diagnosis allowing prompt institution of enzymatic therapy. METHODS AND RESULTS We studied three groups of patients: 10 patients with causal mutations for Fabry disease and LVH, 10 ...
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AIMS Preliminary studies suggested that tissue Doppler imaging (TDI) was able to identify mutation carriers in familial hypertrophic cardiomyopathy (HCM) before the development of hypertrophy. However, data are limited. We performed a systematic analysis of echocardiography, TDI, and electrocardiogram (ECG) in familial HCM to identify parameters associated with genetic status. METHODS AND RES...
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Echocardiography is a well-established clinical tool for the assessment of myocardial function. However, in subclinical diseases, the routinely used echocardiographic parameters such as left ventricular (LV) ejection fraction (EF) and fractional shortening are not sensitive enough to detect myocardial dysfunction. We have learned over the past years that other echocardiographic techniques such ...
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Duchenne muscular dystrophy is an important cause of cardiomyopathy in children and adolescents and is caused by mutations in the gene coding for the protein dystrophin [1]. Dystrophin participates in linking the sarcomere to the sarcolemma and extracellular matrix and plays a role in cell signalling [2]. The disease is characterised by skeletal and cardiac myopathies. Because it is inherited a...
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AIMS Early diagnosis of Duchenne's dilated cardiomyopathy remains a challenge for conventional echocardiography. We sought to determine whether tissue Doppler imaging (TDI) could detect early alteration in myocardial function in a dog model of Duchenne muscular dystrophy, i.e. the Golden Retriever Muscular Dystrophy (GRMD). METHODS AND RESULTS Myocardial function was assessed by TDI in 20 dog...
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ژورنال
عنوان ژورنال: Circulation
سال: 2003
ISSN: 0009-7322,1524-4539
DOI: 10.1161/01.cir.0000061952.27445.a0