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

In systemic diseases such as amyloidosis, sarcoidosis, Friedreich's ataxia, Fabry's disease and muscular dystrophy the clinician has to judge the presence and the amount of cardiac involvement. In most of these patients conventional echocardiographic parameters are not sensitive enough to detect sub-clinical dysfunction. Tissue Doppler imaging and in addition strain rate imaging has proven to be very sensitive for the assessment of myocardial dysfunction. This review explores the impact of these new techniques to identify and to manage cardiac aspects of the different systemic diseases.
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PMID:Use of tissue Doppler imaging to identify and manage systemic diseases. 1771 17

Echocardiography has a leading role in the routine assessment and diagnosis of hypertrophic ventricles. However, the use of M-mode echocardiography and measurement of global left ventricular function may be misleading. Traditionally, systolic function was thought to be preserved in patients with hypertrophic myopathies until the late stages of the disease, and hypertrophic myopathies were thought to affect the myocardium more diffusely than ischemic heart disease. Ultrasound deformation imaging, either by Doppler myocardial imaging or speckle tracking, provides more-sensitive detection of regional myocardial motion and deformation than standard echocardiography. Basic and clinical studies that apply these techniques have revealed early, often subclinical impairment in systolic function. This information allows the detection and treatment of myocardial dysfunction at an early stage, which is of high clinical importance. Physiological hypertrophic remodeling seen in athletes differs from pathological myocardial hypertrophy, which can be caused by compensatory reactive hypertrophy owing to pressure overload in patients with aortic stenosis or hypertension, as well as amyloidosis, Fabry disease or Friedreich ataxia. Each of the etiologies associated with hypertrophy demonstrate distinct regional changes in myocardial deformation, which allows identification of the underlying processes, and will improve the assessment and follow-up of patients with hypertrophic myopathies.
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PMID:The role of echocardiographic deformation imaging in hypertrophic myopathies. 2045 40