u-62840 and Vocal-Cord-Paralysis

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.

Topics: Activin Receptors, Type II; Antihypertensive Agents; Epoprostenol; Humans; Hypertension, Pulmonary; Infant; Male; Mutation; Vocal Cord Paralysis

A 20-year-old man with pulmonary arterial hypertension secondary to systemic sclerosis was admitted to our hospital. Prior to admission, his PAH had been successfully managed with the use of tadalafil, ambrisentan and inhaled Tyvaso. Owing to respiratory failure from vocal cord paralysis, he underwent an emergent tracheotomy. The delivery of inhaled Tyvaso through a tracheostomy tube was explored. Post-tracheostomy, the patient continued his ability to self-administer the medication. His WHO functional classification, brain natriuretic peptide levels, and echocardiograms were not significantly different when Tyvaso was administered via tracheostomy compared with oral administration. This case report summarises the method used to deliver Tyvaso via a tracheostomy tube, which proved to be successful in this patient.

Topics: Administration, Inhalation; Administration, Oral; Adult; Antihypertensive Agents; Epoprostenol; Humans; Hypertension, Pulmonary; Male; Respiratory Insufficiency; Tracheostomy; Tracheotomy; Vocal Cord Paralysis; Young Adult