Literature DB >> 30303062

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

Batool Alsheikh1, Othman Aljohani2, Nicole G Coufal1.   

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.

Entities:  

Keywords:  Ortner syndrome; Pulmonary arterial hypertension; hereditary haemorrhagic telangiectasia type 2; veno-arterial extracorporeal membrane oxygenation

Mesh：

Substances：

Year:  2018        PMID： 30303062      PMCID： PMC6237639          DOI： 10.1017/S1047951118001531

Source DB:  PubMed          Journal:  Cardiol Young        ISSN： 1047-9511            Impact factor:   1.093


  7 in total

1.  Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers.

Authors:  Ayako Chida; Masaki Shintani; Hisato Yagi; Maya Fujiwara; Yasuko Kojima; Hiroki Sato; Shinichiro Imamura; Masato Yokozawa; Norio Onodera; Hitoshi Horigome; Tomio Kobayashi; Yoshiho Hatai; Tomotaka Nakayama; Hiroyuki Fukushima; Mitsunori Nishiyama; Shouzaburo Doi; Yasuo Ono; Satoshi Yasukouchi; Fukiko Ichida; Kazuto Fujimoto; Shinichi Ohtsuki; Hidetaka Teshima; Tatsuya Kawano; Yuichi Nomura; Hong Gu; Takahiro Ishiwata; Yoshiyuki Furutani; Kei Inai; Tsutomu Saji; Rumiko Matsuoka; Shigeaki Nonoyama; Toshio Nakanishi
Journal:  Am J Cardiol       Date:  2012-05-25       Impact factor: 2.778

2.  Pulmonary hypertension in hereditary haemorrhagic telangiectasia.

Authors:  Veronique Mm Vorselaars; Sebastiaan Velthuis; Repke J Snijder; Jan Albert Vos; Johannes J Mager; Martijn C Post
Journal:  World J Cardiol       Date:  2015-05-26

3.  Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation.

Authors:  Barbara Girerd; David Montani; Florence Coulet; Benjamin Sztrymf; Azzeddine Yaici; Xavier Jaïs; David Tregouet; Abilio Reis; Valérie Drouin-Garraud; Alain Fraisse; Olivier Sitbon; Dermot S O'Callaghan; Gérald Simonneau; Florent Soubrier; Marc Humbert
Journal:  Am J Respir Crit Care Med       Date:  2010-01-07       Impact factor: 21.405

4.  Pediatric Pulmonary Hypertension: Guidelines From the American Heart Association and American Thoracic Society.

Authors:  Steven H Abman; Georg Hansmann; Stephen L Archer; D Dunbar Ivy; Ian Adatia; Wendy K Chung; Brian D Hanna; Erika B Rosenzweig; J Usha Raj; David Cornfield; Kurt R Stenmark; Robin Steinhorn; Bernard Thébaud; Jeffrey R Fineman; Titus Kuehne; Jeffrey A Feinstein; Mark K Friedberg; Michael Earing; Robyn J Barst; Roberta L Keller; John P Kinsella; Mary Mullen; Robin Deterding; Thomas Kulik; George Mallory; Tilman Humpl; David L Wessel
Journal:  Circulation       Date:  2015-11-03       Impact factor: 29.690

Review 5.  Cardiovocal syndrome: a systematic review.

Authors:  Siva K Mulpuru; Balendu C Vasavada; Gopi K Punukollu; Ashit G Patel
Journal:  Heart Lung Circ       Date:  2007-12-04       Impact factor: 2.975

6.  Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia.

Authors:  Felicia Hernandez; Robert Huether; Lester Carter; Tami Johnston; Jennifer Thompson; James R Gossage; Elizabeth Chao; Aaron M Elliott
Journal:  Hum Genome Var       Date:  2015-11-05

7.  Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome.

Authors:  Lauge Farnaes; Shareef A Nahas; Shimul Chowdhury; James Nelson; Serge Batalov; David M Dimmock; Stephen F Kingsmore
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-09-01
  7 in total
  1 in total

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

Authors:  Tetsuro Yokokawa; Koichi Sugimoto; Yusuke Kimishima; Tomofumi Misaka; Akiomi Yoshihisa; Hiroko Morisaki; Osamu Yamada; Kazuhiko Nakazato; Takafumi Ishida; Yasuchika Takeishi
Journal:  Intern Med       Date:  2019-09-11       Impact factor: 1.271
  1 in total

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