A Patient With Pulmonary Hypertension Carrying FLNA Loss-of-Function Variant.

Abstract

In a recent study conducted by Laura Stourm et al., the authors identified that patients with pulmonary hypertension (PH) harboring loss-of-function variants in the Filamin A (FLNA) gene exhibit a unique spectrum of phenotypes. These include pulmonary involvement with lung parenchymal abnormalities and emphysema, as well as a range of extrapulmonary manifestations such as dysmorphic facial features, epilepsy, congenital heart defects, valvular and aortic diseases, thrombocytopenia, and periventricular nodular heterotopia (PVNH). Based on these findings, the study advocates for FLNA genetic screening in patients with PH who present with these specific phenotypic features. Here, we describe a clinical case that aligns closely with the observations reported in their study.