Bone Morphogenetic Protein Receptor Type 2 Mutation in Pulmonary Arterial Hypertension: A View on the Right Ventricle

BACKGROUND—The effect of a mutation in the bone morphogenetic protein receptor 2 gene (BMPR2) gene on right ventricular (RV) pressure overload in patients with pulmonary arterial hypertension (PAH) is unknown. Therefore, we investigated RV function in PAH-patients with and without BMPR2 mutation by combining in vivo measurements with molecular and histological analysis of human RV and left ventricular (LV) tissue. METHODS AND RESULTS—In total, 95 idiopathic or familial PAH patients were genetically screened for the presence of a BMPR2 mutation28 patients had a BMPR2 mutation, 67 patients did not have a BMPR2 mutation. In vivo measurements were assessed using right heart catheterization (RHC) and cardiac magnetic resonance imaging. Despite a similar mean pulmonary artery pressure (non-carriers 54±15 vs. mutation carriers 55±9 mmHg) and pulmonary vascular resistance (755 (483-1043) vs. 931 (624-1311) dynes*s/cm), mutation carriers presented with a more severely compromised RV function (RV ejection fraction37.6±12.8 vs. 29.0±9 %p