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Heart valve involvement in Fabry cardiomyopathy.
Frank Weidemann1, Joerg M Strotmann, Markus Niemann
1Department of Internal Medicine/Centres of Rare Diseases and Cardiovascular Medicine, Würzburg, Germany. weidemann_f@medizin.uni-wuerzburg.de
Ultrasound in Medicine & Biology
|December 27, 2008
Summary
Mild heart valve abnormalities are common in Fabry disease, but severe issues are rare. Echocardiography shows frequent mild regurgitation, not typically limiting cardiac function in Fabry patients.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Fabry disease is a rare X-linked lysosomal storage disorder.
- Glycosphingolipid accumulation affects all organs, including the heart.
- Heart valve involvement is noted in Fabry disease progression.
Purpose of the Study:
- To systematically investigate heart valve abnormalities in Fabry disease patients.
- To assess the hemodynamic significance of these valve alterations.
- To evaluate changes in valve function over time.
Main Methods:
- Single-center observational study.
- Echocardiography of 111 genetically confirmed Fabry disease patients.
- Follow-up echocardiography for 60 patients over 2.7 years.
Main Results:
- No severe heart valve abnormalities were observed.
- Mild aortic (17), mitral (57), and tricuspid (38) regurgitation were most frequent.
- Mild aortic stenosis occurred in two patients; moderate regurgitation was rare.
Conclusions:
- Mild left ventricular valve regurgitations are frequent in Fabry disease.
- These abnormalities do not appear to be the major limitation in Fabry cardiomyopathy.
- No significant progression to hemodynamically relevant valve disease was observed during follow-up.
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