Improvement of pulmonary arterial hypertension following medication and shunt closure in a BMPR2 mutation carrier with atrial septal defect

Abstract

Mutation of the BMPR2 gene is the most common genetic cause of pulmonary arterial hypertension (PAH). Although there have been some reports of BMPR2 mutation carriers among PAH patients with congenital heart disease, there have been few reports of their treatment. Here, we describe a 13-year-old female BMPR2 mutation carrier who presented with heritable PAH and atrial septal defect (ASD). She complained of fatigue, and cardiac catheterization showed a mean pulmonary artery pressure (PAP) of 56mmHg, a pulmonary vascular resistance (PVR) of 8 Wood units and a pulmonary to systemic blood flow ratio (Qp/Qs) of 1.3. Following 2 years of medication therapy, the mean PAP had decreased to 30mmHg, the Qp/Qs had increased to 2.7, and her symptoms persisted. We closed the ASD interventionally, and her symptoms improved after closure. Medication therapy was continued. Four years after closure, the PAH had improved with a mean PAP of 20mmHg and a PVR of 3.1 Wood units. To the best of our knowledge, this is the first report of PAH improvement following medication and ASD closure in a BMPR2 mutation carrier with heritable PAH. ASD closure following medication appears to be effective in some ASD patients with heritable PAH.<Learning objective: Mutation of the BMPR2 gene is the most common genetic cause of pulmonary arterial hypertension (PAH). Heritable PAH with BMPR2 mutations has been reported to have a poorer prognosis once PAH has developed. Recent reports have described treatment of atrial septal defect (ASD) patients with PAH by surgical or interventional ASD closure following medication therapy. This case suggests that medication followed by ASD closure could also be effective for BMPR2 mutation carriers with ASD and heritable PAH.>