This single-center, retrospective analysis evaluated long-term bosentan treatment in adult patients (n = 7) with both Down and Eisenmenger syndromes (DS-ES). Laboratory tests, 6-minute walk distance (6MWD), functional class, and Doppler echocardiography were assessed at baseline and during 2 years' follow-up. Improvements or maintenance of 6MWD were observed (68 m improvement from baseline at month 12) after bosentan initiation. 6MWD was maintained up to year 2. Overall, 6 patients experienced a significant improvement in functional class during 2 years' therapy (P = 0.01). There were no significant changes in parameters measured by Doppler echocardiography. None of the patients required either hospitalization or additional pulmonary arterial hypertension (PAH) therapy because of PAH progression. Bosentan treatment was generally well tolerated; no liver function abnormalities or serious adverse drug reactions were noted. In this DS-ES cohort, bosentan seemed to be well tolerated and clinically effective.
Keywords: Down syndrome; Eisenmenger syndrome; bosentan; congenital heart disease; endothelin receptor antagonist; pulmonary arterial hypertension.