Pulmonary Hypertension in Developmental Lung Diseases

DLDs are rare and complex genetic syndromes that mostly present in the neonatal period with hypoxic respiratory failure and PPHN but have a broad spectrum of clinical manifestations, course, and severity. Identifying them and reaching a precision diagnosis is essential and requires advanced resources and expertise. Infants with refractory PPHN should preferentially be managed in level IV NICUs,84 undergo fast genetic testing and possibly a lung biopsy in order to rapidly recognize DLD and identify the genetic cause, and an autopsy should be proposed in nonsurvivors. Neonates with PPHN amenable to therapy should undergo echocardiographic evaluation of pulmonary hypertension before and possibly after discharge, in particular if apparently idiopathic and/or associated with suggestive anomalies. Acute and longterm management of such infants should ideally be conducted in-or coordinated by-multidisciplinary teams in centers with extended diagnostic resources and appropriate expertise. Exciting preclinical work from basic science will likely lead to more precise interventions that are directed toward the targeted correction of specific genetic abnormalities and related downstream molecular signaling pathways to improve outcomes.