Key result
Heritable pulmonary arterial hypertension is caused by BMPR2 mutations in ~85% of patients, sharing increased pulmonary artery pressure as a feature with high-altitude pulmonary edema.
Why the study?
A genetic predisposition to HAPE has long been suspected due to familial cases, but very few disease-causing mutations have been identified compared to heritable PAH.
This review summarizes the genetic basis of heritable PAH, primarily BMPR2 mutations, and the genetic predisposition to HAPE, highlighting increased pulmonary artery pressure as an overlapping feature.
Should not change PAH genotyping or HAPE counseling yet; leaves open shared genetic drivers of elevated pulmonary pressure.
Heritable pulmonary arterial hypertension (PAH) is an autosomal dominantly inherited disease caused by mutations in the bone morphogenetic protein receptor 2 ( BMPR2) gene and/or genes of its signaling pathway in ~85% of patients. A genetic predisposition to high-altitude pulmonary edema (HAPE) has long been suspected because of familial HAPE cases, but very few possibly disease-causing mutations have been identified to date. This minireview provides an overview of genetic analyses investigating common polymorphisms in HAPE-susceptible patients and the directed identification of disease-causing mutations in PAH patients. Increased pulmonary artery pressure is highlighted as an overlapping clinical feature of the two diseases. Moreover, studies showing increased pulmonary artery pressures in HAPE-susceptible patients during exercise or hypoxia as well as in healthy BMPR2 mutation carriers are illustrated. Finally, high-altitude pulmonary hypertension is introduced and future research perspectives outlined.
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Eichstaedt et al. (2020) conducted a review in Pulmonary arterial hypertension and high-altitude pulmonary edema. Genetic mutations (e.g., BMPR2) was evaluated. Heritable pulmonary arterial hypertension is caused by BMPR2 mutations in ~85% of patients, sharing increased pulmonary artery pressure as a feature with high-altitude pulmonary edema.
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