Kosin Med J.  2017 Dec;32(2):227-232. 10.7180/kmj.2017.32.2.227.

Pulmonary Hypertension in Patient with Neurofibromatosis Type 1

• Lee YM
• Yang TH
• Jung H
• Oh TS
• Song JH
• Yu SJ

• KMID: 2400266
• DOI: http://doi.org/10.7180/kmj.2017.32.2.227

Abstract

Neurofibromatosis type 1 (NF1) is a rare genetic disease. Precapillary pulmonary hypertension (PH) with NF1 is an extremely severe complication. A 65-year-old woman was admitted in our hospital with 3-year history of gradually worsening dyspnea on exertion (New York Heart Association functional class III-IV). Considering her clinical feature and examination findings, she could be diagnosed as PH associated with NF1. She was treated with endothelin receptor antagonist. However her dyspnea was not significantly improved. This is the first Korean case of NF1 patient with PH which confirmed with right heart catheterization.

Keyword

Bosentan; Cardiac catheterization; Hypertension pulmonary; Neurofibromatosis 1

MeSH Terms

Aged
Cardiac Catheterization
Cardiac Catheters
Dyspnea
Female
Heart
Humans
Hydrogen-Ion Concentration
Hypertension, Pulmonary*
Neurofibromatoses*
Neurofibromatosis 1*
Receptors, Endothelin
Receptors, Endothelin

Figure

• 

  Fig. 1 Numerous sessile or pedunculated neurofibromas and a few café-au-lait spots are seen on her back.

• 

  Fig. 2 Chest-X ray on admission day showed bilateral haziness, soft tissue mass on left mid lung field and the scoliosis of thoracic spine.

• 

  Fig. 3 Chest computed tomography. A: dilated pulmonary arteries. B: ground-glass opacities on both lung fields and neurogenic tumor(black & white arrows)

• 

  Fig. 4 Lung perfusion scan. Diffuse and severe perfusion decrease of left lung with wide photon deficient area at hilum, probably, due to effect of mediastinal shaft when considering chest computed tomography findings.

• 

  Fig. 5 Cardiac catheterization. Normal pulmonary capillary wedge pressure and increased pulmonary arterial pressure are compatible with pulmonary arterial hypertension.

Reference

1. Reynolds RM, Browning GG, Nawroz I, Campbell IW. Von Recklinghausen's neurofibromatosis: neurofibromatosis type 1. Lancet. 2003; 361:1552–1554.

2. Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis 1. Genet Med. 2010; 12:1–11.

3. Stewart DR, Cogan JD, Kramer MR, Miller WT Jr, Christiansen LE, Pauciulo MW, et al. Is pulmonary arterial hypertension in neurofibromatosis type 1 secondary to a plexogenic arteriopathy? Chest. 2007; 132:798–808.

4. Samuels N, Berkman N, Milgalter E, Bar-Ziv J, Amir G, Kramer MR. Pulmonary hypertension secondary to neurofibromatosis: intimal fibrosis versus thromboembolism. Thorax. 1999; 54:858–859.

5. Simonneau G, Gatzoulis MA, Adatia I, Celermajer D, Denton C, Ghofrani A, et al. Updated clinical classification of pulmonary hypertension. J Am Coll Cardiol. 2013; 62:D34–D41.

6. Oderich GS, Sullivan TM, Bower TC, Gloviczki P, Miller DV, Babovic-Vuksanovic D, et al. Vascular abnormalities in patients with neurofibromatosis syndrome type I: clinical spectrum, management, and results. J Vasc Surg. 2007; 46:475–484.

7. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 1988; 45:575–578.

8. Montani D, Coulet F, Girerd B, Eyries M, Bergot E, Mal H, et al. Pulmonary hypertension in patients with neurofibromatosis type I. Medicine (Baltimore). 2011; 90:201–211.

9. Zamora AC, Collard HR, Wolters PJ, Webb WR, King TE. Neurofibromatosis-associated lung disease: a case series and literature review. Eur Respir J. 2007; 29:210–214.