Summary

Pulmonary arterial hypertension (PAH) is a rare condition that increases pressure in the lungs and can lead to heart failure. Genetic testing can help identify the underlying cause, guide family screening, and inform reproductive decision-making. While previous studies in selected patient groups report a diagnostic yield of 10–30%, less is known about unselected referral populations.

We reviewed genetic testing results from 241 patients with suspected PAH receiving the Blueprint Genetics PAH next-generation sequencing panel. Key findings include that:

• 20.7% of patients received an informative genetic test result
• Copy number variants (CNVs) accounted for 12% of positive results
• Gene distribution differed between pediatric and adult patients, but overall yield was similar

This work supports the importance of genetic testing which includes high-resolution CNV analysis for this population as 1 in 5 patients with clinically suspected PAH received an informative result. Different results across pediatric and adult patients have important implications for genetic counseling.

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Authors:

Julie Hathaway, Marcos Cicerchia, Johanna Tommiska, Saija Ahonen, Eija Seppälä, Kimberly Gall, Alicia Scocchia, Inka Saarinen, Matias Rantanen, Jennifer Schleit, Tiia Kangas-Kontio, Massimiliano Gentile, Pertteli Salmenperä, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo

References:

1. Zhu N, Gonzaga-Jauregui C, Welch CL, et al. Exome sequencing in children with pulmonary hypertension demonstrates differences compared to adults. Circ Genom Precis Med. 2018;11(4):e001887. ​
2. Welch Cl, Chung WK. Genetics and genomics of pediatric pulmonary arterial hypertension. Genes (Base). 2020;11(10):1213.  ​