Clinical Implications of Determining BMPR2 Mutation Status in a Large Cohort of Children and Adults With Pulmonary Arterial Hypertension

Journal of Heart and Lung Transplantation

Volumn 27, Issue 6, 2008, Pages 668-674

  Rosenzweig, Erika B ^a   Morse, Jane H ^a   Knowles, James A ^a   Chada, Kiran K ^b   Khan, Amar M ^a   Roberts, Kari E ^a   McElroy, Jude J ^a   Juskiw, Nicole K ^a   Mallory, Nicole C ^a   Rich, Stuart ^c   Diamond, Beverly ^a   Barst, Robyn J ^a  

^a Columbia University College of Physicians and Surgeons ^*  (United States)

^b RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 2; NITRIC OXIDE;

ADOLESCENT; ADULT; AGED; ARTICLE; BLOOD VESSEL REACTIVITY; BMPR2 GENE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; DISEASE SEVERITY; FEMALE; GENE; GENE MUTATION; HEART INDEX; HEMODYNAMICS; HUMAN; INFANT; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN FUNCTION; PULMONARY HYPERTENSION; RISK ASSESSMENT; RISK FACTOR; UNITED STATES;

ADULT; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE II; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEART CATHETERIZATION; HUMANS; HYPERTENSION, PULMONARY; LUNG; MALE; MIDDLE AGED; MUTATION; SEVERITY OF ILLNESS INDEX; VASODILATION;

EID: 43949131056     PISSN: 10532498     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.healun.2008.02.009     Document Type: Article

References (25)

1. Atkinson C., Stewart S., Upton P.D., et al. Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor. Circulation 105 (2002) 1672-1678
2. Deng Z., Morse J.H., Slager S.L., et al. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet 67 (2000) 737-744
3. Lane K.B., Machado R.D., Pauciulo M.W., et al. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nat Genet 26 (2000) 81-84
4. Thomson J.R., Machado R.D., Pauciulo M.W., et al. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. J Med Genet 37 (2000) 741-745
5. Benza R.L., Park M.H., Keogh A., and Girgis R.E. Management of pulmonary arterial hypertension with a focus on combination therapies. J Heart Lung Transplant 26 (2007) 437-446
6. Keogh A.M., McNeil K.D., Wlodarczyk J., Gabbay E., and Williams T.J. Quality of life in pulmonary arterial hypertension: improvement and maintenance with bosentan. J Heart Lung Transplant 26 (2007) 181-187
7. Rich S., Kaufmann E., and Levy P.S. The effect of high doses of calcium channel blockers on survival in primary pulmonary hypertension. N Engl J Med 327 (1992) 76-81
8. Barst R.J., Maislin G., and Fishman A.P. Vasodilator therapy for primary pulmonary hypertension in children. Circulation 99 (1999) 1197-1208
9. Yung D., Widlitz A.C., Rosenzweig E.B., et al. Outcomes in children with idiopathic pulmonary arterial hypertension. Circulation 10 110 (2004) 660-665
10. Sitbon O., Humbert M., Jais X., et al. Long-term response to calcium channel blockers in idiopathic pulmonary arterial hypertension. Circulation 111 (2005) 3105-3111
11. Elliott C.G., Glissmeyer E.W., Havlena G.T., et al. Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension. Circulation 113 (2006) 2509-2515
12. Proceedings of the Third World Symposium on Pulmonary Arterial Hypertension, Venice, Italy, June 23-25, 2003. J Am Coll Cardiol 43 suppl S (2004) 1S-90S
13. Morisaki H., Nakanishi N., Kyotani S., et al. BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension. Hum Mutat 23 (2004) 632
14. Harrison R.E., Berger R., Haworth S.G., et al. Transforming growth factor-β receptor mutations and pulmonary arterial hypertension in childhood. Circulation 111 (2005) 435-441
15. Koehler R., Grunig E., Pauciulo M.W., et al. Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension. J Med Genet 41 (2004) e127. http://www.jmed%20genet.com/cgi/content/full/41/e127 (http://www.jmed genet.com/cgi/content/full/41/e127)
16. Grunig E., Koehler R., Miltenberger-Miltenyi G., et al. Primary pulmonary hypertension in children may have a different genetic background than in adults. Pediatr Res 56 (2004) 571-578
17. Aldred M.A., Vijayakrishnan J., James V., et al. BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension. Hum Mutat 27 (2006) 212-213
18. Sitbon O., Humbert M., Jagot J.L., et al. Inhaled nitric oxide as a screening agent for safely identifying responders to oral calcium-channel blockers in primary pulmonary hypertension. Eur Respir J 12 (1998) 265-270
19. Barst R.J. Pharmacologically induced pulmonary vasodilatation in children and young adults with primary pulmonary hypertension. Chest 89 (1986) 497-503
20. Barst R.J., McGoon M., Torbicki A., et al. Diagnosis and differential assessment of pulmonary arterial hypertension. J Am Coll Cardiol 43 suppl (2004) 40S-47S
21. Shouten J.P., McElgunn C.J., Waaijer R., et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucl Acids Res 30 (2002) e57
22. Elliot C.G. Genetics of pulmonary arterial hypertension: current and future implications. Semin Respir Crit Care Med 26 (2005) 365-371
23. Cogan J.D., Pauciulo M.W., Batchman A.P., et al. High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension. Am J Respir Crit Care Med 174 (2006) 590-598
24. Machado R.D., Aldred M.A., James V., et al. Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Hum Mutat 27 (2006) 121-132
25. Machado R.D., Pauciulo M.W., Thomson J.R., et al. BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. Am J Hum Genet 68 (2001) 92-102