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The right ventricle in Fabry disease.
C Kampmann1, F A Baehner, C Whybra
1Department of Cardiology, University Children's Hospital, Mainz, Germany. christoph.kampmann@uni-mainz.de
Acta Paediatrica (Oslo, Norway : 1992). Supplement
|May 18, 2005
Summary
Right ventricular (RV) involvement is common in Fabry disease, often progressing to severe systolic and diastolic dysfunction. This RV dysfunction may explain clinical symptoms in patients, even with preserved left ventricular function.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Left ventricular (LV) hypertrophy is a known complication of Fabry disease.
- The role of right ventricular (RV) function in Fabry disease is not well understood.
Purpose of the Study:
- To investigate the extent of RV involvement in patients with Fabry disease.
Main Methods:
- Echocardiographic examination of 129 Fabry disease patients (80 women, 49 men).
Main Results:
- RV hypertrophy was observed in 35.7% of patients.
- Severe systolic and diastolic RV dysfunction was noted in some patients with RV hypertrophy.
- Patients with RV dysfunction had significantly higher LV masses.
Conclusions:
- Right ventricular involvement is prevalent in Fabry disease.
- Progressive RV dysfunction, both systolic and diastolic, occurs in Fabry disease.
- RV dysfunction may contribute to clinical manifestations like reduced exercise capacity.