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Long-term follow-up and survival of BMPR2 mutation positive vs. negative patients

J. W. Schmidt

E. W. Glissmeyer

M. Kim

B. L. Wojciechowski

C. Gregory Elliott

Richard Trembath

J. Carlquist

M. B. Scholand

M. Mead

Kim Warda


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Conference: 2006 International PHA Conference and Scientific Sessions

Release Date: 06.23.2006

Presentation Type: Abstracts

J.W. Schmidt, E.W. Glissmeyer, B.S., M. Kim, BS, B.L. Wojciechowski, C.G.Elliott, MD R. Trembath, MD, J. Carlquist, PhD, M. Scholand, MD, Leppert, PhD, M. Mead, K. Ward, MD

Pulmonary Division, LDS Hospital and University of Utah School of Medicine, USA

BACKGROUNDWe have shown that nonsynonymous DNA sequence variations in the gene BMPR2 identify patients with familial and idiopathic pulmonary arterial hypertension (PAH) who are unlikely to respond acutely to vasodilators. The present report examines the hypothesis that the survival of patients with non-synonymousBMPR2 mutations does not differ from the survival of patients without nonsynonymous BMPR2 mutations identify patients who are likely to live longer.

METHODA cohort study of 71 idiopathic and familial PAH patients enrolled consecutively in the Utah Pulmonary Hypertension Genetics Project. All patients underwent acute vasoreactivity tests and had cDNA screened forBMPR2 mutations. All

13 exons of BMPR2 were screened for sequence variations with the HR-1 instrument (Idaho Technology, Inc.) using Hi-ResTM melting curve analysis. Variant melt profiles were confirmed by standard gene sequencing using big dye terminator chemistry. Follow up data of survival status were collected on all participants as of September 1, 2005.



1 year survival

3 years survival

5 years survival

7 years survival

9 years survival


BMPR2+ (n=29)


28/29 (96.5%)

0 <1 yr diagnosed


22/26  (84.6%)

3 <3 yrs diagnosed


19/24  (79.2%)

5 <5 yrs diagnosed


10/20  (50%)

9 <7 yrs diagnosed


9/20   (45%)

9 <7 yrs diagnosed


BMPR2- (n=42)


41/42   (97.6%)

0 <1 yr diagnosed


37/40    (92.5%)

2 <3 yrs diagnosed


25/32  (78.1%)

10 <5 yrs diagnosed


19/27  (70.4 %)

15 <7 yrs diagnosed


15/24   (62.5 %)

18 <9 yrs diagnosed

CONCLUSIONThe 1,3, and 5-year survival rates of patients with IPAH and FPAH and nonsynonymous BMPR2sequence variations does not differ from the 1,3, and 5-year survival rates of IPAH and FPAH patients without identifiable nonsynonymous BMPR2 sequence variations.