What to do when pulmonary arterial hypertension screening suggests neither fish nor fowl? The DOLPHIN-GENESIS study.

Abstract

Mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene remain the most common genetic cause in both heritable and sporadic cases of pulmonary arterial hypertension (PAH). Presence of a BMPR2 mutation results in a lifetime risk of development of PAH of about 20% [1]. However, only one prospective study underpins the screening recommendations for asymptomatic BMPR2 mutation carriers in the latest European Respiratory Society/European Society of Cardiology guidelines on PAH [1]. The DELPHI-2 study, which included 55 participants, found the annual risk for PAH development in asymptomatic BMPR2 mutation carriers to be 2.3% per year. This highlighted the limitations of over-reliance on single imaging or diagnostic modalities, and consequently the importance of a multimodal diagnostic approach [2]. As a result, screening guidelines are not proscriptive, having been left broad and intentionally open to local variation in practice. Early disease can be missed without multimodal screening approaches to mutation-associated pulmonary arterial hypertension. Mutation carriers can have altered cardiorespiratory physiology even in the absence of clinical disease. https://bit.ly/3z0u0qg