Genetic Marker Predicts Early Heart Failure in Pulmonary Arterial Hypertension

Pulmonary arterial hypertension is a progressive condition characterized by obstructed pulmonary blood flow and strain on the right heart, with half of patients dying within five years of diagnosis. Available drug therapies are expensive and do not reliably prolong life, and many patients deteriorate before a transplant can be performed. Determining which patients will decompensate early remains a persistent challenge in clinical practice. A new study shows a genetic marker that stratifies risk in these patients.

University of Alberta (Edmonton, Canada) investigators identified a single nucleotide polymorphism (SNP) in the UCP2 gene present in about 30% of individuals with pulmonary arterial hypertension (PAH). In research published in Circulation on March 9, 2026, the variant predicted early failure of the right heart chambers, separating patients prone to rapid decompensation from those with more stable disease. The work focuses on identifying patients who may require the most urgent care.

Image: Researchers have identified an easily detectable genetic variant that can predict early right heart failure in PAH patients (photo credit: 123RF)

The team describes an approach that can be implemented with standard clinical tools. The genetic variant can be detected using a mouth swab, and inflammatory status can be assessed through a blood test and medical history. Patients with more inflammation decompensated earlier, and many people with PAH also have inflammatory diseases such as scleroderma or lupus.

The investigators tested rats and analyzed human heart tissue from three patient groups at the University of Alberta, Laval University and Duke University. Across cohorts, carriers of the UCP2 variant were predisposed to faster deterioration of right heart function than non-carriers. The researchers note that the next step is to reproduce the findings in larger populations, with the ultimate goal of enabling a test to identify high‑risk patients for more intensive treatment, more frequent follow‑up and earlier referral for transplantation.

“This could potentially save lives and health-care costs, and improve the well-being of both patients and their loved ones,” said Evangelos Michelakis, professor and associate chair of research for the Department of Medicine and director of the Cardiovascular Research Institute.

“Because it is easy to detect this genetic variant using a mouth swab, and we can detect inflammation through a blood test and by taking the medical history, we hope our team's findings can quickly change medical practice,” said Michelakis.