Published articles on pulmonary hypertension associated with neurofibromatosis type 1

First author [ref.]SexAge yearsCT scanNYHAPO2 mmHgFVC %FEV1 %DLCO %mPpa mmHgCI L·min·m−2PVR Wood unitsTreatmentCourse
Porterfield [21]Female56Interstitial markings in lower lobes. bullae in apex (radio)III33735Calcium antagonist
Samuels [22]Male51Bilateral perfusion defectsIII577771493.43.0EndarterectomyImprovement after surgery
Aoki [23]Female16NormalII671168479492.115.1Calcium antagonist and anticoagulantsAggravation and then treatment with i.v. prostanoids. Death 2 years after the diagnosis
Female70NormalIII48382.312.0Anticoagulant and isosorbide dinitrateAggravation and then treatment with i.v. protanoids
García Hernandez [24]Male44NormalIII3010711062i.v. prostanoidsImprovement and then death some years after diagnosis
Engel [25]Female60Lung cysts and T-7 schwannomaIII859048502.310ERA, PDE5 inhibitor and i.v. prostanoidsClinical improvement
Female69NormalIII10511966602.311PDE5 inhibitorClinical improvement
Stewart [26]Female72Mosaic perfusionIV6673352.75.4Calcium antagonists and i.v. prostanoidsDeath from respiratory failure
Female56Mild ground-glass attenuation in the upper lobes and lung cystsIII837641681.6i.v. prostanoidsDeath 2 years after diagnosis from respiratory failure
Male68Lung cysts492.45.4Calcium antagonistsDeath 6 years after diagnosis from RH failure
Female33Mosaic perfusion3438531.324.4ERA and PDE5 inhibitorDeath 1 year after starting treatment
Simeoni [27]Female51Nodular lesions and schwannoma in the upper mediastinumIII7265ERAStable after 2 years of treatment
Montani [28]Female59NormalIII7310459482.012.0Anticoagulants, ERA and i.v. prostanoidsDeath after 6 months
Female63Moderate pulmonary fibrosis with large bullaeIII58524527521.914.4Anticoagulants, PDE5 inhibitor, ERA and i.v. prostanoidsDeath after 42 months
Female53Lung cysts and interstitial infiltrateIII10925472.78.0Anticoagulants, PDE5 inhibitor, ERA and i.v. prostanoidsDeath after 46 months
Female69NormalIII6710339542.314.4PDE5 inhibitor and ERA, prostanoids declinedAlive at 36 months but more severe
Male66Mosaic perfusion and mild emphysemaIII69 (3 L)10448432.19.3Anticoagulants, PDE5 inhibitor and ERAAlive at 8 months
Female63Lung cystsIII51696923363.3Anticoagulants and ERAAlive at 18 months. On a waiting list for lung transplant
Female53Lung cystsIII79 (4 L)8329NA314.7NoAlive at 3 months
Female61Lung cysts and interstitial infiltrateIII409524372.37.1Anticoagulants, ERA, i.v. prostanoids then lung transplantationAlive 8 months after diagnosis and 1 month after lung transplantation
Gumbiene [29]Female30Mosaic perfusionIV11511155492.515Anticoagulants, PDE5 inhibitor and ERADeath after 3 months
Malviya [30]Male34Mosaic perfusionII582.719PDE5 inhibitor and balloon atrial septostomyAlive 8 months after diagnosis
Male44Mosaic perfusion and localised fibrotic lesionIV746644481.726.5ERA and PDE5 inhibitorAlive after 15 months and improved
Tamura [31]Female30NAII39i.v. prostanoid then PDE5 inhibitor and ERA then sorafenibAlive 6 years after the diagnosis
Martignac [32]Female64Lung cysts, ground-glass opacities and suspect massIII647226621.921.4Anticoagulants, ERA and PDE5 inhibitorDeath after 4 months
Kamdar [33]Female69NA3923PDE5 inhibitor and i.v. prostanoidImprovement and alive after 12 months
Giannakoulas [34]Female57Normal841.927.1Anticoagulants, ARE and PDE5 inhibitor then balloon atrial septostomy followed by i.v. prostanoidsImprovement and alive after 24 months
Chaddha [35]Female63Lung cysts, ground-glass opacities and interlobular septal thickeningIV602.114PDE5 inhibitor and i.v. prostanoids (stopped after pulmonary oedema)Pulmonary oedema under vasodilator. Death after 3 months
Küçük [36]Female46Mosaic perfusion patternII9110093852.916Calcium antagonists and ERAImprovement
Poble [37]Female55Lung cystsIII68931044941219Anticoagulants, PDE5 inhibitor and ERAImprovement and alive after 9 months
Palot [38]Female55Intrathoracic meningocele and scoliosisIV535168304.9Noninvasive ventilationImprovement after 1 month

CT: computed tomography; NYHA: New York Heart Association; PO2: oxygen tension; FVC: forced vital capacity; FEV1: forced expiratory volume in 1 s; DLCO: diffusing capacity of the lung for carbon monoxide; mPpa: mean pulmonary artery pressure; CI: cardiac index; PVR: pulmonary vascular resistance; NA: not available; ERA: endothelin receptor antagonist; PDE5: phosphodiesterase-5.