Key result
De novo FLNA loss-of-function variant linked to severe precapillary pulmonary hypertension and PDA.
Why the study?
Recent findings advocated for FLNA genetic screening in pulmonary hypertension patients presenting with specific pulmonary and extrapulmonary phenotypes, motivating this report of a clinical case aligning with those observations.
Case Report (n=1)
No
This case highlights the distinct clinical phenotype and variable prognosis of pulmonary hypertension associated with FLNA loss-of-function variants, emphasizing the need for genetic screening in atypical PH presentations.
FLNA loss-of-function variants may mark a distinct multisystem PH phenotype; leaves open whether genetic testing refines PH classification or management.
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.
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Cai et al. (2025) conducted a case report in Pulmonary hypertension (n=1). FLNA loss-of-function variant was evaluated. A 29-year-old woman with a de novo FLNA loss-of-function variant presented with severe precapillary pulmonary hypertension, patent ductus arteriosus, and periventricular nodular heterotopia.
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