Tóm tắt
Pulmonary arterial hypertension (PAH) is an uncommon autosomal dominant condition that may result from germline pathogenic variants. Currently, 10 genes have been definitively associated with hereditary PAH (HPAH), and several other genes have been identified through advancements in genome sequencing technology. Genetic testing and counseling are recommended for individuals with idiopathic (primary) pulmonary arterial hypertension (PAH), PAH linked to anorexigens, or those with a familial history. We present a case of PAH that received molecular diagnosis and genetic counseling for the ACVRL1 gene. Identifying pathogenic variants associated with PAH is crucial for screening asymptomatic carriers among family members, determining which individuals require regular assessment, and prenatal genetic counseling.