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Paediatric pulmonary hypertension caused by an ACVRL1 mutation presenting as Ortner syndrome

Published online by Cambridge University Press:  10 October 2018

Batool Alsheikh ,
Othman Aljohani  and
Nicole G. Coufal
Batool Alsheikh*
Affiliation:
Division of Pediatric Critical Care, Rady Children’s Hospital UCSD, San Diego, CAUSA
Othman Aljohani
Affiliation:
Division of Pediatric Cardiology, Rady Children’s Hospital UCSD, San Diego, CA, USA
Nicole G. Coufal
Affiliation:
Division of Pediatric Critical Care, Rady Children’s Hospital UCSD, San Diego, CAUSA
*
Author for correspondence: Batool Alsheikh, MD, Division of Pediatric Critical Care, Rady Children’s Hospital, 3020 Children’s Way PC 5065, San Diego, CA 92123, USA. Tel: +1 281-610-8766; E-mail: [email protected]
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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.

Keywords

Pulmonary arterial hypertensionhereditary haemorrhagic telangiectasia type 2veno-arterial extracorporeal membrane oxygenationOrtner syndrome
Type
Brief Report
Information
Cardiology in the Young , Volume 28 , Issue 12 , December 2018 , pp. 1475 - 1476
Copyright
© Cambridge University Press 2018 

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References

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