Why the study?
Aquaporin-1 mutations are a rare cause of heritable pulmonary artery hypertension with poorly defined clinical manifestations, and coexisting left ventricular dysfunction had not been previously reported.
Case Report (n=1)
This case report identifies a novel heterozygous AQP1 mutation associated with severe pulmonary arterial hypertension and coexisting biventricular dysfunction that responded favorably to endothelin receptor antagonist and guideline-directed medical therapy.
Alerts clinicians to AQP1 variants in PAH with biventricular dysfunction; extends phenotypic spectrum but remains hypothesis-generating.
BACKGROUND: Aquaporin-1 (AQP1) mutations are a rare cause of heritable pulmonary artery hypertension. The clinical manifestation remains poorly defined, and coexisting left ventricular dysfunction has not been reported. CASE SUMMARY: A 34-year-old man presented with severe pulmonary arterial hypertension and biventricular dysfunction. Genetic testing revealed a heterozygous AQP1 mutation, c.551T >C (p.Ile184Thr), not previously reported; family screening confirmed the same variant in his mother and daughter. After 6 months of guideline-directed medical therapy and endothelin receptor antagonist therapy, pulmonary artery pressure decreased significantly, and functional capacity improved. DISCUSSION: Biventricular impairment raises 2 hypotheses: septal dyskinesia secondary to right ventricular overload, or myocardial impairment because of altered AQP1 channel function. The favorable response suggests targeted pulmonary vasodilator therapy may benefit in this rare genetic subset. TAKE-HOME MESSAGE: AQP1 mutations should be considered in genetic workup of pulmonary arterial hypertension and may coexist with left ventricular dysfunction responsive to endothelin receptor antagonist therapy.
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Danh et al. (2026) conducted a case report in Severe pulmonary arterial hypertension and biventricular dysfunction with heterozygous AQP1 mutation (n=1). Guideline-directed medical therapy and endothelin receptor antagonist therapy was evaluated on Pulmonary artery pressure and functional capacity.
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