Pulmonary hypertension: From genetics to treatments;Hypertension artérielle pulmonaire: De la génétique aux traitements

Revue de Pneumologie Clinique

Volumn 60, Issue 4, 2004, Pages 196-201

  Humbert, M ^a   Yaici A ^a   Sztrymf, B ^a   Montani, D ^a  

^a HÔPITAL ANTOINE BÉCLÈRE   (France)

Author keywords

Endothelin; Genetics; Prostacyclin; Pulmonary hypertension; Transforming growth factor beta

Indexed keywords

ANOREXIGENIC AGENT; BONE MORPHOGENETIC PROTEIN RECEPTOR; ENDOTHELIN RECEPTOR ANTAGONIST; ILOPROST; PHOSPHODIESTERASE V INHIBITOR; PROSTACYCLIN; TRANSFORMING GROWTH FACTOR BETA;

ARTERY RESISTANCE; CARDIOMYOPATHY; CONNECTIVE TISSUE DISEASE; DYSPNEA; EXERCISE; FAMILIAL DISEASE; GENE MUTATION; HEART RIGHT VENTRICLE FAILURE; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; LUNG TRANSPLANTATION; OXYGEN THERAPY; PORTAL HYPERTENSION; PROGNOSIS; PULMONARY HYPERTENSION; RARE DISEASE; RENDU OSLER WEBER DISEASE; REVIEW;

EID: 4744356106     PISSN: 07618417     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0761-8417(04)72099-4     Document Type: Review

References (30)

1. Humbert M, Sitbon O, Simonneau G. Les hypertensions pulmonaires. In: Cohen A, Belmatoug N, eds. Cœur et Médecine Interne. Paris: ESTEM, 2002:1275-309.
2. Rubin LJ. Primary pulmonary hypertension. Chest 1993;104:236-50.
3. Rich S, Dantzker DR, Ayres SM, Bergofsky EH, Brundage BH, Detre M, et al. Primary pulmonary hypertension: a national prospective study. Ann Intern Med 1987;107:216-23.
4. Loyd JE, Butler MG, Foround TM, Conneally PM, Philips JA, Newman JH. Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension. Am J Respir Crit Care Med 1995;152:93-7.
5. Humbert M, Nunes H, Sitbon O, Parent F, Herré P, Simonneau G. Risk factors for pulmonary arterial hypertension. Clin Chest Med 2001;22:459-75.
6. Humbert M, Trembath RC. Genetics of pulmonary hypertension: from bench to bedside. Eur Respir J 2002;20:741-9.
7. Nichols WC, Koller DL, Slovis B, Foroud T, Terry VH, Arnold ND, et al. Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32. Nat Genet 1997;15:277-80.
8. The International PPH Consortium, Lane KB, Machado RD, Pauciulo MW, Thomson JR, Phillips JA 3rd, Loyd JE, Nichols WC, Trembath RC. Heterozygous germline mutations in a TGFβ receptor, BMPR2, are the cause of familial primary pulmonary hypertension. Nat Genet 2000;26:81-4.
9. Deng Z, Morse JH, Slager SL, Cuervo N, Moore KJ, Venetos G, et al. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet 2000;67:737-44.
10. Machado RD, Pauciulo MW, Thomson JR, Lane KB, Morgan NV, Wheeler L, et al. BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. Am J Hum Genet 2001;68:92-102.
11. Thomson JR, Machado RD, Pauciulo MW, Morgan NV, Humbert M, Elliott GC, et al. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family. J Med Genet 2000;37:741-5.
12. Massague J, Chen YG. Controlling TGF-β signaling. Genes Dev 2000;14:627-44.
13. Humbert M, Soubrier F, Simonneau G. Un gène pour l'hypertension artérielle pulmonaire primitive. Rev Mal Respir 2001;18:473-8.
14. Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Engl J Med 1995;333:918-24.
15. Shovlin CL, Letarte M. Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations: issues in clinical management and review of pathogenic mechanisms. Thorax 1999;54:714-29.
16. Atkinson C, Stewart S, Upton PD, Machado R, Thomson JR, Trembath RC, et al. Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor. Circulation 2002;105:1672-8.
17. Rudarakanchana N, Flanagan JA, Chen H, Upton PD, Machado R, Patel D, et al. Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension. Hum Mol Genet 2002;11:1517-25.
18. Morrell NW, Yang X, Upton PD, Jourdan KB, Morgan N, Sheares KK, et al. Altered growth responses of pulmonary artery smooth muscle cells from patients with primary pulmonary hypertension to transforming growth factor-β1 and bone morphogenetic proteins. Circulation 2001;104:790-5.
19. Abenhaim L, Moride Y, Brenot F, Rich S, Benichou J, Kurz X, et al. Appetite-suppressant drugs and the risk of primary pulmonary hypertension. N Engl J Med 1996;335:609-16.
20. Humbert M, Deng Z, Simonneau G, Barst R, Sitbon O, Wolf M, et al. BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. Eur Respir J 2002;20:518-23.
21. Eddahibi S, Humbert M, Fadel E, Raffestin B, Darmon M, Capron F, et al. Serotonin transporter overexpression is responsible for pulmonary artery smooth muscle hyperplasia in primary pulmonary hypertension. J Clin Invest 2001;108:1141-50.
22. Yeager ME, Halley GR, Golpon HA, Voelkel NF, Tuder RM. Microsattelite instability of endothelial cell growth and apoptosis genes within plexiform lesions in primary pulmonary hypertension. Circ Res 2001;88:E2-E11.
23. Lee SD, Shroyer KR, Markham NE, Cool CD, Voelkel NF, Tuder RM. Monoclonal endothelial cell proliferation is present in primary but not secondary pulmonary hypertension. J Clin Invest 1998;101:927-34.
24. Garcia-Tsao G, Korzenik JR, Young L, Henderson KJ, Jain D, Byrd B, et al. Liver disease in patients with hereditary hemorrhagic telangiectasia. N Engl J Med 2000;343:931-6.
25. Sapru RP, Hutchison DC, Hall JI. Pulmonary hypertension in patients with pulmonary arteriovenous fistulae. Br Heart J 1969;31:559-69.
26. Trell E, Johansson BW, Linell F, Ripa J. Familial pulmonary hypertension and multiple abnormalities of large systemic arteries in Osler's disease. Am J Med 1972;53:50-63.
27. Trembath RC, Thomson J, Machado RD, Morgan NV, Atkinson C, Winship I, et al. Clinical and molecular genetic features of pulmonary hypertension in hereditary hemorrhagic telangiectasia. N Engl J Med 2001;345:325-34.
28. Grüning E, Jansen B, Mereles D, Barth U, Borst MM, Vogt IR, et al. Abnormal pulmonary artery pressure response in asymptomatic carriers of primary pulmonary hypertension gene. Circulation 2000;102:1145-50.
29. Humbert M, Sitbon O, Simonneau G. Treatment of pulmonary arterial hypertension. N Engl J Med (in press).
30. Humbert M, Simonneau G. Sildenafil for pulmonary arterial hypertension: still waiting for evidence. Am J Respir Crit Care Med 2004;169:6-7.