What question did this study set out to answer?

This research aims to explore the role of somatic mutations in the formation of plexiform lesions in patients with pulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT).

January 23, 2026Open Access

Somatic PIK3CA Activating Mutation in a Plexiform Lesion of a Patient With HHT and PAH

Key Points

This research aims to explore the role of somatic mutations in the formation of plexiform lesions in patients with pulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT).
Case analysis of a patient with combined PAH and HHT.
Examination of somatic mutations in the lesion.
Investigation of endothelial cell behavior in the plexiform lesion.
Identification of a somatic PIK3CA activating mutation in the plexiform lesion.
Evidence that somatic mutations contribute to endothelial cell proliferation.
Demonstration of a potential linkage between mutation presence and lesion development.

Abstract

This novel discovery sheds light on the molecular basis of plexiform lesion development in this rare case of combined PAH and HHT, highlighting a potential role of somatic mutations in driving endothelial cell proliferation in plexiform lesions.

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Cite This Study

Schimmel et al. (Thu,) studied this question.

synapsesocial.com/papers/69730ef2c8125b09b0d1ece2 https://doi.org/https://doi.org/10.1016/j.jaccas.2025.106786

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