Comment on: Pulmonary hypertension in patients carrying FLNA loss-of-function variants

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).