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- Title
Echocardiography in Fabry disease: diagnostic value of endocardial border binary appearance.
- Authors
Koskenvuo, Juha W.; Engblom, Erik; Kantola, Ilkka M.; Hartiala, Jaakko J.; Saraste, Antti; Kiviniemi, Tuomas O.; Mononen, Ilkka; Saraste, Markku
- Abstract
Background and Aim: It has been reported that the endocardium in Fabry disease has a binary appearance on transthoracic echocardiography. It has been suggested that this sign could be used with good accuracy to differentiate Fabry disease from hypertrophic cardiomyopathy and even as a first filter to screen for suspected Fabry disease. Methods: Therefore, we performed a blinded echocardiography in a non-selected population of patients with Fabry disease and matched controls. We included 23 echocardiographic studies of Fabry patients. Results: Two of the Fabry patients had binary appearance of the endocardium. One of them had left ventricular hypertrophy (LVH) and the other had a normal left ventricular mass. Binary appearance of the endocardium was detected in four of the controls, and one of them had LVH. Subgroup analysis of patients who had LVH indicated a sensitivity of 12·5% and a specificity of 66·7% for binary appearance of the endocardium to detect Fabry disease as the underlying cause of LVH. Overall, binary appearance of the endocardium had a sensitivity and a specificity of 15·4 and 73·3%, respectively, to distinguish patients with Fabry disease from controls in our population. Conclusions: Binary appearance of the endocardium is not feasible for screening Fabry disease by echocardiography.
- Subjects
LYSOSOMAL storage diseases; MEDICAL screening; ENDOCARDIUM diseases; ECHOCARDIOGRAPHY; CARDIAC hypertrophy; DIAGNOSIS
- Publication
Clinical Physiology & Functional Imaging, 2009, Vol 29, Issue 3, p177
- ISSN
1475-0961
- Publication type
Article
- DOI
10.1111/j.1475-097X.2008.00851.x