Case Report: A Pulmonary and Peripheral Arteriovenous Malformation in a Pulmonary Hypertension Patient with an Underlying BMPR2 Mutation

Introduction: BMPR2 mutations, accountable for 75-80% of heritable pulmonary hypertension (hPAH) cases, have been associated with the development of pulmonary arteriovenous malformations (pAVM). To date, there have been no documented cases of AVMs in the systemic circulation (sAVM) in patients with BMPR2 mutations. This case report presents a unique case of a patient with a BMPR2 mutation who developed multiple AVMs, not only in the lungs but also at an extrapulmonary site. These findings may hint toward systemic implications of the BMPR2 mutation.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Source Type: research