The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension

Summary. We present a patient that is the index case of pulmonary arterial hypertension(PAH) in a child due to the bone morphogenetic protein type II (BMPR2) missense mutationp.K230N, also known as c.690A>T. Missense mutations typically have earlier onset and moresevere disease in PAH, so pulmonologists should be aware of this in the evaluation of PAH inchildren. Pediatr Pulmonol. 2014; 49:E5–E6. 2012 Wiley Periodicals, Inc. Key words: hereditary; pulmonary arterial hypertension; BMPR2; p.K230N; c.690A>T.Funding source: none reported. INTRODUCTIONPulmonary arterial hypertension (PAH) is a diseasecharacterized by elevated pulmonary artery pressurethat often results in right ventricular (RV) failure.The current diagnostic guidelines for PAH are based onhemodynamic measurements of right heart catheteriza-tion (RHC) performed at rest (mean pulmonary arterialpressure [PAP] >25 mmHg), without the presence ofpulmonary venous hypertension with a concomitantpulmonary capillary wedge pressure (PCWP) 15 mmHgand pulmonary vascular resistance (PVR) >3 WoodUnits.