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- Title
Paediatric pulmonary hypertension caused by an ACVRL1 mutation presenting as Ortner syndrome.
- Authors
Alsheikh, Batool; Aljohani, Othman; Coufal, Nicole G.
- Abstract
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.
- Subjects
PULMONARY hypertension; ACTIVIN receptor-like kinase 1; NITRIC oxide; NUCLEOTIDE sequencing; SILDENAFIL; ANTIHYPERTENSIVE agents; CELL receptors; GENETIC mutation; PARALYSIS; PROSTACYCLIN; VOCAL cord diseases; DISEASE complications; THERAPEUTICS
- Publication
Cardiology in the Young, 2018, Vol 28, Issue 12, p1475
- ISSN
1047-9511
- Publication type
journal article
- DOI
10.1017/S1047951118001531