PH Professional Network: Comprehensive Evaluation and Ongoing Approach to Children With Down Syndrome Who Have Pulmonary Hypertension or Are at Risk of Developing Pulmonary Hypertension

Abstract

Children with Down syndrome and pulmonary hypertension (PH) are a unique and challenging group of patients. Down syndrome, or Trisomy 21, affects approximately one in every 600 to 800 live births. PH, currently defined as a resting mean pulmonary artery pressure of ≥25 mm Hg, is known to increase morbidity and mortality significantly in this group of patients and has been identified in as many as 28% of all patients with Down syndrome. Furthermore, specific risk factors and comorbidities have been shown to increase the chance of developing PH in this population. Careful screening and proper treatment is imperative in children with Down syndrome to prevent the development, recurrence, or progression of PH in this population. Recent findings from Bush et al demonstrate clear clinical characteristics and risk factors for development of PH in children with Down syndrome. Prior to this study, data regarding the incidence of PH throughout the Down syndrome lifespan, associations with comorbidities, exacerbating factors, and overall impact of PH in the Down syndrome population were lacking. Most notably, perhaps, was their finding that a vast majority (87%) of patients who suffered from recurrent PH after a previous resolution were classified as World Health Organization (WHO) Group 3 or associated with lung disease. The study also demonstrated that obstructive sleep apnea (OSA), recurrent hypoxia, and aspiration are clear risk factors for development or recurrence of PH. Given these findings, we as providers must take an organized approach in screening for potentially preventable lung insults that contribute to the development and further progression of PH.