Extract We read with interest the article by Stourm et al. 1 reporting nine patients with FLNA loss-of-function (LoF) pathogenic variants and pulmonary arterial hypertension (PAH) from the French Pulmonary Hypertension Network. The authors describe a particular PAH phenotype associated with congenital heart disease and lung parenchymal involvement, together with typical features of filaminopathies such as periventricular nodular heterotopia (PVNH).
Mora-Gómez et al. (Mon,) studied this question.