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Paediatric Pulmonary Hypertension Caused by an ACVRL1 Mutation Presenting As Ortner Syndrome

Overview
Journal Cardiol Young
Publisher Cambridge University Press
Specialties Cardiology & Vascular Diseases
Pediatrics
Date 2018 Oct 11
PMID 30303062
Citations 3
Authors
Batool Alsheikh
Othman Aljohani
Nicole G Coufal
Affiliations
Soon will be listed here.
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.

Citing Articles

Giving Voice to Cardiovocal Syndrome: A 26-Year-Old Woman With Hypophonia and Dysphagia.

Ehrenberger K Cureus. 2023; 15(11):e48917.

PMID: 38106692 PMC: 10725325. DOI: 10.7759/cureus.48917.

Ortner's syndrome: A systematic review of presentation, diagnosis and management.

Verma S, Talwar A, Talwar A, Khan S, Krishnasastry K, Talwar A Intractable Rare Dis Res. 2023; 12(3):141-147.

PMID: 37662622 PMC: 10468413. DOI: 10.5582/irdr.2023.01047.

Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation.

Yokokawa T, Sugimoto K, Kimishima Y, Misaka T, Yoshihisa A, Morisaki H Intern Med. 2019; 59(2):221-227.

PMID: 31511490 PMC: 7008044. DOI: 10.2169/internalmedicine.3625-19.

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