Primary Pulmonary Vein Stenosis: A New Look at a Rare but Challenging Disease

Primary pulmonary vein stenosis (PPVS) represents a rare but emerging, often progressive heterogeneous disease with high morbidity and mortality in the pediatric population. Although our understanding of PPVS disease has improved markedly in recent years, much remains unknown regarding disease pathogenesis, distinct disease phenotypes, and patient- and disease-related risk factors driving the unrelenting disease progression characteristic of PPVS. In the pediatric population, risk factors identified in the development of PPVS include an underlying congenital heart disease, prematurity and associated conditions, and an underlying genetic or congenital syndrome. Continued improvement in the survival of high-risk populations, coupled with ongoing advances in general PPVS awareness and diagnostic imaging technologies suggest that PPVS will be an increasingly prevalent disease affecting pediatric populations in the years to come. However, significant challenges persist in both the diagnosis and management of PPVS. Standardized definitions and risk stratification for PPVS are lacking. Furthermore, evidence-based guidelines for screening, monitoring, and treatment remain to be established. Given these limitations, significant practice variation in management approaches has emerged across centers, and contemporary outcomes for patients affected by PPVS remain guarded. To improve care and outcomes for PPVS patients, the development and implementation of universal definitions for disease and severity, as well as evidence-based guidelines for screening, monitoring, cardiorespiratory care, and indications for surgical intervention will be critical. In addition, collaboration across institutions will be paramount in the creation of regionalized referral centers as well as a comprehensive patient registry for those requiring pulmonary vein stenosis.