Abstract

Objectives. We recently demonstrated reduced exercise capacity in phlebotomy treated genetic haemochromatosis in spite of normal systolic function. The present objective was to investigate diastolic function at rest. Design. Diastolic function was echocardiographically assessed in 132 phlebotomy treated genetic haemochromatosis patients and 50 controls. Results. Patients had higher body mass index and heart rate, higher transmitral early (E) (11.2±2.6 versus 10.4±2.2 cm) and atrial (A) (5.7±1.6 versus 5.0±1.6) velocity time integrals, pulmonary venous systolic peak velocity (0.58±0.12 versus 0.54±0.13 m/s) and ratio of E to spectral tissue Doppler E′ velocity (6.3±1.6 versus 5.6±1.4, all p <0.05). Independently of age, heart rate, systolic blood pressure and body weight, having haemochromatosis remained statistically significantly associated with higher E (β =0.27) and A (β =0.18) velocity time integrals, pulmonary venous systolic peak velocity (β =0.21), and E/E′-ratio (β =0.25) in separate multivariate analyses (all p <0.05). In the youngest age tertile, patients had longer isovolumic relaxation time and lower E′ than controls. Conclusion. Our findings are compatible with mildly impaired diastolic function in treated haemochromatosis, with delayed relaxation in the younger tertile, and an elevated filling pressure and pseudonormalisation with increasing age.

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