Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension

Area of Science:

• Radiology
• Genetics
• Cardiology

Background:

• Germline mutations in the BMPR2 gene are prevalent in pulmonary arterial hypertension (PAH) patients.
• The association between BMPR2 mutations and specific imaging findings in PAH is not well-established.

Purpose of the Study:

• To identify and characterize unique pulmonary vascular abnormalities on CT and pulmonary artery angiography in patients with and without BMPR2 gene mutations.

Main Methods:

• Retrospective analysis of chest CT scans, pulmonary artery angiograms, and genetic data from IPAH and HPAH patients (2010-2021).
• Evaluation of perivascular halo, neovascularity, and ground-glass opacities (GGO) at CT, graded for severity.
• Statistical analysis using Kendall rank-order coefficient and Kruskal-Wallis test to compare patient groups.

Main Results:

• Patients with BMPR2 mutations (n=82) more frequently exhibited perivascular halo (38% vs 13%) and neovascularity (60% vs 34%) compared to non-carriers (n=193).
• "Frost crystals" on pulmonary angiography were also more common in BMPR2 mutation carriers (53% vs 12%).
• Severe perivascular halo and neovascularity often co-occurred in patients with BMPR2 mutations.

Conclusions:

• BMPR2 mutation carriers with PAH demonstrate characteristic CT findings, namely perivascular halo and neovascularity.
• These imaging features suggest a connection between the genetic underpinnings and the pulmonary and systemic pathology of PAH.