An Unexpected Therapeutic Overlap: Long-Term Control of KCNK3-Associated Pulmonary Arterial Hypertension During Treatment of Systemic Hypertension – A Case Report

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ID: 328937
2026
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Abstract
Abstract Background Pulmonary arterial hypertension (PAH) is a progressive disorder characterised by obliterative pulmonary vascular remodelling. Pathogenic variants in KCNK3 represent a recognised cause of heritable PAH (hPAH). Loss-of-function mutations lead to membrane depolarisation, increased calcium influx, and enhanced pulmonary vasoconstriction. Calcium channel blockers (CCBs) are recommended for patients demonstrating a positive acute vasoreactivity test. Case Summary A 50-year-old man carrying a pathogenic KCNK3 (E34K) mutation was referred to a tertiary PAH centre during familial screening after two of his children were diagnosed with PAH and were non-responders to acute vasoreactivity testing. He was mildly symptomatic, World Health Organization functional class (WHO-FC) II, with preserved exercise capacity, 6-minute walk distance (6MWD) of 580 m, and normal NT-proBNP levels. Echocardiography showed mild right ventricular dilatation with preserved systolic function. Right heart catheterisation (RHC) confirmed mild pre-capillary pulmonary hypertension with a positive acute vasoreactivity testing response. Considering the mild haemodynamic impairment, the underlying KCNK3 mutation, and prior clinical improvement during amlodipine therapy for systemic hypertension, high-dose amlodipine was initiated. At 6-month follow-up, the patient improved to WHO-FC I, with increased 6MWD and haemodynamic improvement on repeat RHC. Discussion This case describes a favourable clinical and haemodynamic response to CCB therapy in KCNK3-associated PAH. It highlights phenotypic variability within familial KCNK3-related disease and indicates that longitudinal data may help identify patients who could benefit from targeted therapies despite borderline haemodynamic profiles.
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Authors Leonardo Carli, Michele Di Leo, Federico Donato, Chiara Barozzi, Fabio Dardi
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Journal European Heart Journal - Case Reports
Year 2026
DOI
10.1093/ehjcr/ytag679
URL
https://doi.org/10.1093/ehjcr/ytag679
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