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. 2012 Jan 1;4(1):27–30. doi: 10.1136/heartasia-2012-010093

Table 2.

Summary of type 1 neurofibromatosis cases with pulmonary hypertension

Author References No. of patients Age (years)/sex PAP (mm Hg) CT scan of chest Biopsy Genetic studies
Porterfield 2 1 56/F 60/22

  • Interstitial

  • Fibrosis

 NA NA
Samuels 4 1 59/M 90/–

  • Mosaic

  • Pattern

 Arteriopathy NA
Aoki 10 2

  • 19/F

  • 70/F

  • 84/31/49

  • 70/22/38

  • Dilated pulmonary artery

  • Not done

 NA NA
Hernandez 8 1 44/M 62/30

  • Mosaic

  • Pattern

 NA NA
Engel 9 2

  • 60/F

  • 69/F

  • 82/30

  • 100/40

  • Cystic changes,

  • Normal

 NA NA
Montani 6 8

  • 61 (mean)

  • 7F/1M

 43.5 (mean)

  • Cystic changes (4)

  • Normal (3)

  • Mild fibrosis (1)

 Arteriopathy (1)
Stewart 5 4

  • 58 (mean)

  • 3F/1M

 60 (mean)

  • Mosaic

  • Pattern

 Arteriopathy (1)

  • BMPR2

  • Negative
Simeoni 7 1 51/F 108/39/65 Mass lesion Arteriopathy

  • BMPR2

  • Negative
Gumbiene 11 1 30/F 79/32/49 Mosaic Pattern NA NA
Malviya The present study 2

  • 34/M

  • 44/M

  • 105/35/63

  • 81/26/48

  • Mosaic

  • Pattern

 NA NA

NA, Not available; BMPR, bone morphogenetic protein receptor; PAP, pulmonary artery pressure.