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

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

*Corresponding author for this work

Research output: Contribution to journalArticle

120 Scopus citations

Abstract

Background: Bone morphogenetic protein receptor type 2 (BMPR2) mutations occur in idiopathic and familial pulmonary arterial hypertension (IPAH, FPAH); however, the impact of these mutations on clinical assessment and disease severity remains unclear. We investigated the role of BMPR2 mutations on acute vasoreactivity and disease severity in IPAH/FPAH children and adults. Methods: BMPR2 mutation types were determined in 147 IPAH/FPAH patients. Hemodynamics were obtained at baseline and with acute vasodilator testing. Results: Of 147 patients (69 adults, 78 children; 114 with IPAH, 33 with FPAH), 124 (84%) were BMPR2 mutation-negative, and 23 (16%) were mutation-positive. BMPR2 mutation-positive patients were less likely to respond to acute vasodilator testing than mutation-negative patients (4% vs 33%; p < 0.003; n = 147). BMPR2 mutation-positive children also appeared less likely to respond to acute vasodilator testing than mutation-negative children. BMPR2-positive patients had lower mixed venous saturation (57 ± 9% vs 62 ± 10%; p < 0.05) and cardiac index (CI; 2.0 ± 1.1 vs 2.4 ± 1.5 liters/min; p < 0.05) than BMPR2-negative patients. Conclusions: Patients with BMPR2 mutations are less likely to respond to acute vasodilator testing than mutation-negative patients and appear to have more severe disease at diagnosis. Determination of BMPR2 mutations appears to help identify IPAH/FPAH children and adults who are unlikely to respond to acute vasodilator testing and, thus, unlikely to benefit from calcium channel blockade (CCB) treatment.

Original languageEnglish (US)
Pages (from-to)668-674
Number of pages7
JournalJournal of Heart and Lung Transplantation
Volume27
Issue number6
DOIs
StatePublished - Jun 2008

ASJC Scopus subject areas

  • Surgery
  • Pulmonary and Respiratory Medicine
  • Cardiology and Cardiovascular Medicine
  • Transplantation

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    Rosenzweig, E. B., Morse, J. H., Knowles, J. A., Chada, K. K., Khan, A. M., Roberts, K. E., McElroy, J. J., Juskiw, N. K., Mallory, N. C., Rich, S., Diamond, B., & Barst, R. J. (2008). 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, 27(6), 668-674. https://doi.org/10.1016/j.healun.2008.02.009