BMPR2 mutations and survival in pulmonary arterial hypertension: An individual participant data meta-analysis

The Lancet Respiratory Medicine

Volumn 4, Issue 2, 2016, Pages 129-137

  Evans, Jonathan D W ^a,b   Girerd, Barbara ^c,d,e   Montani, David ^c,d,e   Wang, Xiao Jian ^f   Galiè, Nazzareno ^g   Austin, Eric D ^h   Elliott, Greg ⁱ   Asano, Koichiro ^j   Grünig, Ekkehard ^k   Yan, Yi ^m   Jing, Zhi Cheng ^e,n   Manes, Alessandra ^g   Palazzini, Massimiliano ^g   Wheeler, Lisa A ^h   Nakayama, Ikue ⁱ   Satoh, Toru ⁿ   Eichstaedt, Christina ^k,l   Hinderhofer, Katrin ^l   Wolf, Matthias ^k,l   Rosenzweig, Erika B ^o   Chung, Wendy K ^o   Soubrier, Florent ^p   Simonneau, Gérald ^c,d,e   Sitbon, Olivier ^c,d,e   Gräf, Stefan ^a   Kaptoge, Stephen ^q   Di Angelantonio, Emanuele ^q   Humbert, Marc ^c,d,e   Morrell, Nicholas W ^a   more..

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b PAPWORTH HOSPITAL   (United Kingdom)

^c UNIVERSITÉ PARIS SACLAY   (France)

^d BICÊTRE HOSPITAL   (France)

^e CENTRE CHIRURGICAL MARIE LANNELONGUE   (France)

^f FUWAI HOSPITAL   (China)

^g UNIVERSITY OF BOLOGNA   (Italy)

^h VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^j TOKAI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^k UNIVERSITY OF HEIDELBERG   (Germany)

^l UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^m TONGJI UNIVERSITY SCHOOL OF MEDICINE   (China)

ⁿ KYORIN UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^o NewYork Presbyterian Hospital   (United States)

^p SORBONNE UNIVERSITÉ   (France)

^q UNIVERSITY OF CAMBRIDGE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 2; BMPR2 PROTEIN, HUMAN;

AGE; ALL CAUSE MORTALITY; ARTICLE; BLOOD PRESSURE; BLOOD VESSEL REACTIVITY; BMPR2 GENE; DEATH; DISEASE ASSOCIATION; GENDER; GENE MUTATION; HAZARD RATIO; HEART INDEX; HUMAN; LUNG ARTERY PRESSURE; LUNG TRANSPLANTATION; LUNG VASCULAR RESISTANCE; MORTALITY; PHENOTYPE; PRIORITY JOURNAL; PULMONARY HYPERTENSION; SURVIVAL; SYSTEMATIC REVIEW; ADULT; FAMILIAL PRIMARY PULMONARY HYPERTENSION; FEMALE; GENETICS; HYPERTENSION, PULMONARY; MALE; META ANALYSIS; MIDDLE AGED; MUTATION; PROGNOSIS; PROPORTIONAL HAZARDS MODEL; STATISTICS AND NUMERICAL DATA; SURVIVAL RATE; YOUNG ADULT;

ADULT; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE II; FAMILIAL PRIMARY PULMONARY HYPERTENSION; FEMALE; HUMANS; HYPERTENSION, PULMONARY; LUNG TRANSPLANTATION; MALE; MIDDLE AGED; MUTATION; PROGNOSIS; PROPORTIONAL HAZARDS MODELS; SURVIVAL RATE; YOUNG ADULT;

EID: 84958111500     PISSN: 22132600     EISSN: 22132619     Source Type: Journal    
DOI: 10.1016/S2213-2600(15)00544-5     Document Type: Article

References (34)

1. McLaughlin VV, McGoon MD Pulmonary arterial hypertension. Circulation 2006, 114:1417-1431.
2. Humbert M, Morrell NW, Archer SL, et al. Cellular and molecular pathobiology of pulmonary arterial hypertension. J Am Coll Cardiol 2004, 43:S13-S24.
3. Badesch DB, Champion HC, Sanchez MA, et al. Diagnosis and assessment of pulmonary arterial hypertension. J Am Coll Cardiol 2009, 54:S55-S66.
4. Simonneau G, Gatzoulis MA, Adatia I, et al. Updated clinical classification of pulmonary hypertension. J Am Coll Cardiol 2013, 62:S34-S41.
5. Deng Z, Morse JH, Slager SL, 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, 67:737-744.
6. International PPHC, Lane KB, Machado RD, et al. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nat Genet 2000, 26:81-84.
7. Soubrier F, Chung WK, Machado R, et al. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol 2013, 62:S13-S21.
8. Machado RD, Southgate L, Eichstaedt CA, et al. Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects. Hum Mutat 2015, 36:1113-1127.
9. Koehler R, Grunig E, Pauciulo MW, et al. Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension. J Med Genet 2004, 41:e127.
10. Morisaki H, Nakanishi N, Kyotani S, Takashima A, Tomoike H, Morisaki T BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension. Hum Mutat 2004, 23:632.
11. Larkin EK, Newman JH, Austin ED, et al. Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension. Am J Respir Crit Care Med 2012, 186:892-896.
12. Galie N, Humbert M, Vachiery JL, et al. 2015 ESC/ERS guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Heart and Lung Transplantation (ISHLT). Eur Respir J 2015, 46:903-975.
13. Sztrymf B, Coulet F, Girerd B, et al. Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation. Am J Respir Crit Care Med 2008, 177:1377-1383.
14. Liu D, Wu WH, Mao YM, et al. BMPR2 mutations influence phenotype more obviously in male patients with pulmonary arterial hypertension. Circ Cardiovasc Genet 2012, 5:511-518.
15. Austin ED, Phillips JA, Cogan JD, et al. Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension. Respir Res 2009, 10:87.
16. Girerd B, Montani D, Eyries M, et al. Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension. Respir Res 2010, 11:73.
17. Pfarr N, Szamalek-Hoegel J, Fischer C, et al. Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations. Respir Res 2011, 12:99.
18. Humbert M, Sitbon O, Yaici A, et al. Survival in incident and prevalent cohorts of patients with pulmonary arterial hypertension. Eur Respir J 2010, 36:549-555.
19. Miller DP, Gomberg-Maitland M, Humbert M Survivor bias and risk assessment. Eur Respir J 2012, 40:530-532.
20. Stewart LA, Clarke M, Rovers M, et al. Preferred reporting items for systematic review and meta-analyses of individual participant data: the PRISMA-IPD statement. JAMA 2015, 313:1657-1665.
21. Galie N, Hoeper MM, Humbert M, et al. Guidelines for the diagnosis and treatment of pulmonary hypertension: the Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS), endorsed by the International Society of Heart and Lung Transplantation (ISHLT). Eur Heart J 2009, 30:2493-2537.
22. Humbert M, Deng Z, Simonneau G, et al. BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. Eur Respir J 2002, 20:518-523.
23. Simonneau G, Channick RN, Delcroix M, et al. Incident and prevalent cohorts with pulmonary arterial hypertension: insight from SERAPHIN. Eur Respir J 2015, 46:1711-1720.
24. Barrios E, Lapuniza P, Vincente Mm, et al. Preliminary results of the determination of BMPR2 mutations and clinical implications in a Spanish population of patients with pulmonary arterial hypertension. Eur Heart J 2013, 34:S306. (abstract).
25. Chida A, Shintani M, Yagi H, et al. Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers. Am J Cardiol 2012, 110:586-593.
26. Elliott CG, Glissmeyer EW, Havlena GT, et al. Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension. Circulation 2006, 113:2509-2515.
27. Kabata H, Satoh T, Kataoka M, et al. Bone morphogenetic protein receptor type 2 mutations, clinical phenotypes and outcomes of Japanese patients with sporadic or familial pulmonary hypertension. Respirology 2013, 18:1076-1082.
28. Rosenzweig EB, Morse JH, Knowles JA, et al. Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension. J Heart Lung Transplant 2008, 27:668-674.
29. Rich S, Kaufmann E, Levy PS The effect of high doses of calcium-channel blockers on survival in primary pulmonary hypertension. N Engl J Med 1992, 327:76-81.
30. Sitbon O, Humbert M, Jaïs X, et al. Long-term response to calcium channel blockers in idiopathic pulmonary arterial hypertension. Circulation 2005, 111:3105-3111.
31. Hemnes AR, Brittain EL, Trammell AW, et al. Evidence for right ventricular lipotoxicity in heritable pulmonary arterial hypertension. Am J Respir Crit Care Med 2014, 189:325-334.
32. Ling Y, Johnson MK, Kiely DG, et al. Changing demographics, epidemiology, and survival of incident pulmonary arterial hypertension: results from the pulmonary hypertension registry of the United Kingdom and Ireland. Am J Respir Crit Care Med 2012, 186:790-796.
33. Spiekerkoetter E, Tian X, Cai J, et al. FK506 activates BMPR2, rescues endothelial dysfunction, and reverses pulmonary hypertension. J Clin Invest 2013, 123:3600-3613.
34. Long L, Ormiston ML, Yang X, et al. Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension. Nat Med 2015, 21:777-785.