Volume 17: Issue 4

The keynote address of the 2018 Pulmonary Hypertension Association (PHA) Scientific Sessions given by Dr Roham Zamanian, “From Clinical Classification to Precision-Phenotyping: Envisioning Precision Medicine in Pulmonary Hypertension,” was the perfect prelude to the final session of the symposium. In this session the speakers tackled the timely question: “Omics and Wearables in Pulmonary Hypertension: Are We There Yet?” Dr Michael Snyder of Stanford University described how longitudinal, integrative personal omics profiling that incorporate whole genome sequencing, multidimensional omics measurements, and data from wearables can be applied to: 1) determine what it means to be healthy; 2) potentially predict transitions from health to disease prior to symptom development; and 3) better monitor and treat chronic disease. Dr Anna Hemnes of Vanderbilt University shared promising preliminary data from the ongoing multicenter, collaborative PVDOMICS initiative (Redefining Pulmonary Hypertension through Pulmonary Vascular Disease Phenomics), funded by the National Heart, Lung and Blood Institute (NHLBI) and PHA. Finally, Dr Raymond Benza of the Allegheny Health Network shared intriguing pilot data on the safety and utility of an implantable hemodynamic monitoring device, the CardioMEMS^™ HF system, in patients with advanced pulmonary arterial hypertension (PAH).

The Scientific Sessions at the 2018 Pulmonary Hypertension Association International Conference began with presentations on the theme of “Basic Science and Clinical Trials: Accelerating the Future.” These presentations, by leading pulmonary hypertension researchers, focused on recent breakthroughs in understanding the pathobiology of the disease, preclinical models of new treatments, early-phase clinical trials, and future directions for the treatment of pulmonary arterial hypertension.

Pediatric pulmonary hypertension (PH) is a heterogeneous disease that includes etiologies related to growth and development that are unique to children. Recent pediatric registry studies have characterized diverse phenotypes even within recognized PH subtypes, including PH associated with congenital heart disease and developmental lung disease. Advances in genetics are resulting in increased understanding of the genetic basis for PH, with recent discoveries such as TBX4 mutations specific for pediatric-onset pulmonary arterial hypertension (PAH) and SOX17 related to congenital heart disease–associated PAH. In addition to potential genetic underpinnings, PAH risk and clinical presentation in children with congenital heart disease may vary by cardiac condition, such as single-ventricle physiology or transposition of the great arteries. Growth and development of the pulmonary vasculature likely plays a role in all pediatric PH, which is highlighted by the disruption of normal lung growth in patients with PH related to prematurity and developmental lung disease. These diverse pediatric genotypes and phenotypes underscore a need for an individualized approach to diagnose and treat the complex pediatric PH population. Magnetic resonance imaging (MRI) is increasingly being used to improve clinical characterization of PH in children, with recent identification of specific MRI biomarkers associated with PH severity and outcomes. While much progress has been made, additional understanding of the important genetic causes and developmental concepts in pediatric PH is needed to develop a precision medicine approach to diagnosis and treatment of children with PH.

Z Dai,