Three additional cases of precapillary pulmonary hypertension in female patients were associated with a patent ductus arteriosus and a pathogenic heterozygous FLNA loss-of-function variant.
Further supports the association between FLNA loss-of-function variants and precapillary pulmonary hypertension, particularly in patients with patent ductus arteriosus.
Extract We thank M. Mora-Gómez and co-workers for their interest in our study describing the phenotype of patients with precapillary pulmonary hypertension (PH) associated with Filamin A (FLNA) loss-of-function pathogenic variants 1. M. Mora-Gómez and co-workers report three additional cases of precapillary PH in paediatric and adult female patients, all of whom had a patent ductus arteriosus and a pathogenic heterozygous loss-of-function variant.
Grynblat et al. (Mon,) conducted a letter in Precapillary pulmonary hypertension (n=3). FLNA loss-of-function pathogenic variants was evaluated on Phenotype presentation. Three additional cases of precapillary pulmonary hypertension in female patients were associated with a patent ductus arteriosus and a pathogenic heterozygous FLNA loss-of-function variant.