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Cardiopulmonary involvement in Fabry's disease.
Juha W Koskenvuo1, Ilkka M Kantola, Pirjo Nuutila
1Dept. of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Finland. juhkos@utu.fi
Acta Cardiologica
|May 13, 2010
Summary
Fabry disease causes left ventricular hypertrophy and reduced exercise capacity, but these cardiac changes are only weakly linked to patient symptoms. Routine echocardiography may suffice for Fabry disease cardiopulmonary evaluation.
Area of Science:
- Cardiology
- Pulmonology
- Genetics
Background:
- Fabry disease is an X-linked lysosomal storage disorder due to alpha-galactosidase A deficiency.
- Glycosphingolipid accumulation in tissues, including the heart and vasculature, is characteristic.
- Controversial data exists regarding cardiopulmonary involvement in Fabry disease.
Purpose of the Study:
- To investigate cardiopulmonary involvement in Fabry disease.
- To clarify the relationship between cardiopulmonary parameters and symptoms.
Main Methods:
- Seventeen Fabry disease patients underwent ECG, stress tests, cardiac MRI, spirometry, diffusing capacity, and HRCT.
- Cardiopulmonary symptoms were correlated with test parameters.
Main Results:
- Left ventricular hypertrophy (LVH) and reduced exercise capacity were common cardiac findings.
- Pulmonary function tests showed mild changes, with minimal HRCT findings.
- Pulmonary symptoms correlated with lower ejection fraction and longer QRS duration, not cardiac symptoms.
Conclusions:
- LVH and reduced exercise capacity are key cardiopulmonary findings in Fabry disease.
- These findings have a minor association with patient-reported symptoms.
- Echocardiography, combined with exercise counseling, may be adequate for routine evaluation.
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