Advanced therapies in pulmonary arterial hypertension and congenital heart disease in people with Down syndrome

Abstract

Abstract Background Management of patients with pulmonary arterial hypertension associated with congenital heart disease and trisomy 21 is complex due to uncertainty over the best first-line agent to use for treatment, and the outcome measures for assessing response to therapy. There are also ethical issues around therapeutic decisions which may require ‘best interests’ meetings of carers and health care professionals. Case presentation We present a case of a 35-year-old man with Down syndrome, with un-operated atrioventricular septal defect, right ventricular hypertrophy and moderate left atrioventricular valve regurgitation. In the clinic he was visibly cyanosed with peripheral oxygen saturations of 78% at rest. He had very limited walk distance and was in WHO class III. Conclusions We discuss the decisions made around the best therapy for his Eisenmenger syndrome taking into account patient and family views on therapy and considering the psychosocial burden of treatment.