Objective: This study examines the epidemiology, 15-year F/U and effect of emerging therapies on a large cohort of patients with pulmonary arterial hypertension (PAH) related to congenital heart disease (CHD).
Methods: Clinical, echocardiographic, exercise and hemodynamic data were recorded on all patients diagnosed with PAH related to CHD between 1993 and 2008.
Results: Sixty patients aged 21±14 (0.1-51) years (24 (40%) <18 yrs) at diagnosis were studied; 44 (73%) had unrestrictive mixing and the rest non-mixing lesions, mainly repaired CHD. Seven (12%) WHO Class II patients received no therapy, 45 (75%) in Class II-III monotherapy (34 bosentan, 1 discontinuation after repair, 6 sildenafil, 5 sitaxsentan) with clinical and exercise improvement. Due to deterioration, sildenafil was added in 6 (10%) patients after 3±1 years of bosentan monotherapy and epoprostenol in 2 (3%) patients after 1 year combination therapy. Over 6±4 (1-15) F/U years, 49 (82%) patients remained stable on no or monotherapy, 4 (7%) deteriorated after 1-5 years monotherapy but stabilized on combination therapy and 7 (12%) died (3 right heart failure, 4 suddenly). The unrestrictive mixers had 2 (4%) and the non-mixers 5 (33%) deaths respectively.
Conclusions: Long-term improvement and stabilization is possible in PAH related to CHD with monotherapy or combination therapy in case of deterioration overtime. Death may be sudden or due to right heart failure, while survival is better in unrestrictive mixers. Larger long-term registry studies are needed to evaluate survival and clinical condition and improve medical management of these patients in the current treatment era.