Key result
Genetic and genomic studies have identified mutations in BMPR2 and over 20 other risk genes that contribute to the heritability, penetrance, and expressivity of pulmonary arterial hypertension.
This review highlights the expanding genetic landscape of pulmonary arterial hypertension, emphasizing the role of BMPR2 and newly identified genes in disease pathogenesis, penetrance, and potential therapeutic targets.
Supports genetic counseling in PAH families; extends heritability insights but leaves therapeutic translation open.
[No abstract. Showing first paragraph of article]Although pulmonary hypertension (PH) had been recognised for centuries, it was not until the invention of cardiac catheterisation in the 1950s that enabled an accurate gene encoding bone morphogenetic protein receptor type 2, in patients with familial and clinical diagnosis. The discovery of heterozygous germline mutations in BMPR2, the idiopathic forms of pulmonary arterial hypertension (PAH) was another breakthrough in understanding the disease and initiated a new era in care of patients with this condition.
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Swietlik et al. (2020) conducted a review in Pulmonary arterial hypertension. Genetic and genomic studies have identified mutations in BMPR2 and over 20 other risk genes that contribute to the heritability, penetrance, and expressivity of pulmonary arterial hypertension.
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