The right ventricle in Fabry disease

Abstract

Aim: Left ventricular (LV) hypertrophy is a common feature in Fabry disease‐related progressive infiltrative hypertrophic cardiomyopathy and affects both men and women, but at different ages. To date, however, little is known about the role of right ventricular (RV) function in Fabry disease. Therefore, this study aimed to investigate the extent of RV involvement in patients with Fabry disease. Methods: Echocardiographic examination of the right and left ventricle was carried out in 129 patients (80 women and 49 men) with Fabry disease. Results: RV hypertrophy was present in 46 patients (35.7%). Of these patients, 13 showed signs of severely depressed right systolic function (tricuspid annulus movement <10 mm and a prolonged RV pre‐ejection period/pulmonary ejection time ratio) and six patients showed additional severe depression of parameters of diastolic function (pseudo‐normal or restrictive RV filling patterns). Those patients with RV hypertrophy and severely compromised systolic and diastolic function had the highest LV masses (92±11.7 g/m2.7). Conclusion: RV involvement is common in Fabry disease and ultimately progresses to severe systolic and diastolic RV dysfunction. These findings might explain why patients with preserved LV function can develop clinical features such as reduced exercise capacity, organomegaly and lymphoedema.

Twenty‐four‐month α‐galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters

“…Its aetiology may be a reduction in stroke volume and cardiac output, especially at stress induced by LV hypertrophy, increased left atrial pressure due to poor diastolic function, or both. Right ventricular involvement has also been suggested to have a role in this cascade (Kampmann et al 2005). Mean exercise capacity was 60% of the reference value, which is at the same level as observed earlier in Fabry disease (Bierer et al 2006).…”

The right ventricle in Fabry disease: natural history and impact of enzyme replacement therapy

“…RV involvement in FD has been evaluated in two previous studies by Palecek and Kampmann et al 19 20. Both could clearly document that RV involvement is common in patients with FD.…”

“…Thus, in theory the RV should be involved in FD as well. Two recently published studies investigated RV involvement in FD using standard echocardiography in a cross-sectional design 19 20. Both studies clearly showed that RV involvement is a common finding in FD, and the RV involvement largely paralleled LV involvement when assessed with standard echo parameters 20…”

Onset and progression of the Anderson–Fabry disease related cardiomyopathy

“…This mosaic cellular phenotype is due to random X-chromosome inactivation first described by Lyon [31,32]. Cardiac involvement is commonly seen in the classic AFD phenotype namely, LVH, valvular dysfunction, and conduction abnormalities [7][8][9][10]20,22,23,33]. Although these abnormalities are well described in male AFD patients, it is only recently that their contribution to morbidity in female heterozygotes has begun to be appreciated.…”