Literature DB >> 27326022

Type 1 neurofibromatosis and pulmonary hypertension: a report of two cases and a review.

Amit Malviya1, Sundeep Mishra1, Shyam S Kothari1.   

Abstract

Pulmonary hypertension in type 1 neurofibromatosis is not well known and was previously attributed to diffuse fibrosing alveolitis and parenchymal tumours. More recently, cases of severe pulmonary hypertension due to pulmonary vasculopathy have been described. Involvement of vascular beds, both large and medium calibre vessels, but not pulmonary vasculature, in type 1 neurofibromatosis is well known. The authors describe two such cases and briefly review the literature. Pulmonary arterial hypertension in neurofibromatosis warrants further studies.

Entities:  

Keywords:  Von Recklinghausen's disease; echocardiography; genetics; neurofibromin; paediatric cardiology; paediatric interventional cardiology; pulmonary arterial hypertension; pulmonary vascular disease; pulmonary vasculopathy

Year:  2012        PMID： 27326022      PMCID： PMC4898659          DOI： 10.1136/heartasia-2012-010093

Source DB:  PubMed          Journal:  Heart Asia        ISSN： 1759-1104


  18 in total

Review 1.  Upstream and downstream of mTOR.

Authors:  Nissim Hay; Nahum Sonenberg
Journal:  Genes Dev       Date:  2004-08-15       Impact factor: 11.361

2.  Pulmonary hypertension and interstitial fibrosis in von Recklinghausen neurofibromatosis.

Authors:  J K Porterfield; R E Pyeritz; T A Traill
Journal:  Am J Med Genet       Date:  1986-11

Review 3.  Updated clinical classification of pulmonary hypertension.

Authors:  Gérald Simonneau; Ivan M Robbins; Maurice Beghetti; Richard N Channick; Marion Delcroix; Christopher P Denton; C Gregory Elliott; Sean P Gaine; Mark T Gladwin; Zhi-Cheng Jing; Michael J Krowka; David Langleben; Norifumi Nakanishi; Rogério Souza
Journal:  J Am Coll Cardiol       Date:  2009-06-30       Impact factor: 24.094

4.  Pulmonary hypertension secondary to neurofibromatosis: intimal fibrosis versus thromboembolism.

Authors:  N Samuels; N Berkman; E Milgalter; J Bar-Ziv; G Amir; M R Kramer
Journal:  Thorax       Date:  1999-09       Impact factor: 9.139

5.  Pulmonary hypertension: a fatal complication of neurofibromatosis type 1.

Authors:  Lina Gumbiene; Zaneta Petrulioniene; Kestutis Rucinskas; Vyte Maneikiene; Pranas Serpytis; Alicija Dranenkiene; Aleksandras Laucevicius
Journal:  Respir Care       Date:  2011-05-20       Impact factor: 2.258

6.  The NF1 tumor suppressor critically regulates TSC2 and mTOR.

Authors:  Cory M Johannessen; Elizabeth E Reczek; Marianne F James; Hilde Brems; Eric Legius; Karen Cichowski
Journal:  Proc Natl Acad Sci U S A       Date:  2005-06-03       Impact factor: 11.205

7.  Neurofibromin regulates G protein-stimulated adenylyl cyclase activity.

Authors:  Jiayuan Tong; Frances Hannan; Yinghua Zhu; Andre Bernards; Yi Zhong
Journal:  Nat Neurosci       Date:  2002-02       Impact factor: 24.884

Review 8.  Pulmonary hypertension in neurofibromatosis.

Authors:  Peter J Engel; Robert P Baughman; Santosh G Menon; Dean J Kereiakes; Lisa Taylor; Mark Scott
Journal:  Am J Cardiol       Date:  2007-03-08       Impact factor: 2.778

9.  Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy?

Authors:  Douglas R Stewart; Joy D Cogan; Mordechai R Kramer; Wallace T Miller; Leif E Christiansen; Michael W Pauciulo; Ludwine M Messiaen; George S Tu; William H Thompson; Reed E Pyeritz; Jay H Ryu; William C Nichols; Makoto Kodama; Barbara O Meyrick; David J Ross
Journal:  Chest       Date:  2007-06-15       Impact factor: 9.410

10.  Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females.

Authors:  E D Austin; J D Cogan; J D West; L K Hedges; R Hamid; E P Dawson; L A Wheeler; F F Parl; J E Loyd; J A Phillips
Journal:  Eur Respir J       Date:  2009-04-08       Impact factor: 16.671
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