Bridging the gaps in pediatric pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH) in children is a progressive and lethal disease, that –despite improved treatment strategies in the recent years- remains incurable and is associated with a poor prognosis. To further improve the quality of life and outcome of these children treatment strategies have to be optimized. Therefore, early identification of children at high risk, a better definition of treatment goals and early initiation of the best combination of available drugs are important pursuits in pediatric PAH. Our research focuses on risk stratification, genetics, risk factors, blood-derived biomarkers reflecting right ventricular remodeling, and treatment strategies in pediatric PAH. First we have shown that a model – composed of different risk factors- can be used to determine the prognosis of children with PAH. With this risk stratification model children with PAH can be classified in a high rand low risk group and therewith appropriate treatment can be started after diagnosis. We have also shown that specific PAH-associated gene mutations are associated with worse clinical presentation and outcome and may therefore also be implemented in risk stratification. In addition, we have shown that serially measured NT-proBNP, a marker of cardiac stretch, is associated with outcome in children with PAH. Also, right ventricular mass and the ratio between right and left ventricular mass determined with cardiac magnetic resonance imaging, are important prognostic markers in pediatric PAH. Finally, we have shown that an intensive treatment strategy in children with severe PAH is associated with improved outcome. This offers perspectives for the future