ArticleFrontiers in pharmacology2025
A case report of 'Two-Hit' digenic mutations in PAH: role of PADN in management.
Article in Frontiers in pharmacology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Pulmonary arterial hypertension (PAH) is a severe cardiopulmonary disorder characterized by progressive elevation of pulmonary vascular resistance, resulting to right ventricular dysfunction and premature mortality. Although genetic mutations are increasingly recognized in PAH pathogenesis, cases involving digenic mutations remain exceptionally rare. Case presentation: We report the case of a 47-year-old female presenting with a 5-year history of exertional dyspnea, which progressively worsened over the preceding 2 months. Diagnostic imaging revealed pulmonary artery dilatation and right heart enlargement, and right heart catheterization confirmed PAH with a mean pulmonary arterial pressure of 43 mmHg. Whole exome sequencing identified a novel heterozygous mutation in Conclusion: This case highlights a rare instance of PAH associated with digenic mutations in
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