Table 2

Summary of type 1 neurofibromatosis cases with pulmonary hypertension

AuthorReferencesNo. of patientsAge (years)/sexPAP (mm Hg)CT scan of chestBiopsyGenetic studies
Porterfield2156/F60/22

  • Interstitial

  • Fibrosis

NANA
Samuels4159/M90/–

  • Mosaic

  • Pattern

ArteriopathyNA
Aoki102

  • 19/F

  • 70/F

  • 84/31/49

  • 70/22/38

  • Dilated pulmonary artery

  • Not done

NANA
Hernandez8144/M62/30

  • Mosaic

  • Pattern

NANA
Engel92

  • 60/F

  • 69/F

  • 82/30

  • 100/40

  • Cystic changes,

  • Normal

NANA
Montani68

  • 61 (mean)

  • 7F/1M

43.5 (mean)

  • Cystic changes (4)

  • Normal (3)

  • Mild fibrosis (1)

Arteriopathy (1)
Stewart54

  • 58 (mean)

  • 3F/1M

60 (mean)

  • Mosaic

  • Pattern

Arteriopathy (1)

  • BMPR2

  • Negative

Simeoni7151/F108/39/65Mass lesionArteriopathy

  • BMPR2

  • Negative

Gumbiene11130/F79/32/49Mosaic PatternNANA
MalviyaThe present study2

  • 34/M

  • 44/M

  • 105/35/63

  • 81/26/48

  • Mosaic

  • Pattern

NANA

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