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Paediatric pulmonary hypertension caused by an ACVRL1 mutation presenting as Ortner syndrome.
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https://doi.org/10.1017/s1047951118001531Abstract
We report a rare aetiology of vocal cord paralysis secondary to undiagnosed severe pulmonary hypertension from a de novo ACVRL1 variant identified by whole-genome sequencing. The patient had a partial response to intravenous treprostinil in addition to inhaled nitric oxide, bosentan, and sildenafil.
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