BMPR2 mutation carriers with idiopathic pulmonary arterial hypertension presented at a significantly younger age and had a higher mean pulmonary arterial pressure (63.7 vs. 50.5 mmHg) compared to non-carriers.
Cohort (n=73)
Yes
What is the prevalence of BMPR2 mutations and how do they affect clinical and hemodynamic phenotypes in Korean patients with idiopathic pulmonary arterial hypertension?
In Korean patients with idiopathic pulmonary arterial hypertension, BMPR2 mutations have a prevalence of 22% and are associated with a significantly younger age of onset and more severe hemodynamic profiles at diagnosis.
Absolute Event Rate: 63.7% vs 50.5%
p-value: p=<0.001
BACKGROUND: Pulmonary arterial hypertension (PAH) is a progressive chronic disease with poor outcomes. One reason for poor prognosis is the lack of understanding regarding individual variability in response to treatment. Idiopathic PAH (IPAH) patients with bone morphogenetic protein receptor type 2 (BMPR2) mutations have distinct phenotypes that are crucial for individualized therapy but evidence regarding their prevalence and clinical features in the Korean population is lacking. Therefore, the present study aimed to screen Korean IPAH patients for BMPR2 mutations and analyze their clinical phenotypes. METHODS: We enrolled 73 unrelated IPAH patients for BMPR2 mutation screening between March 2010 to November 2015 from 11 hospitals in Korea. Thirty-three lineal family members from 6 families of BMPR2 mutation carriers were also screened. RESULTS: Among 73 patients, 16 (22%) had BMPR2 mutations. Mutation carriers were younger (27 vs. 47 years; p = 0.02) and had a higher mean pulmonary arterial pressure (mPAP) than non-carriers (64 vs. 51 mmHg; p<0.05). Of the 16 individuals with mutations, 5 deletion, 2 splice-site, 6 nonsense, and 3 missense mutations were found, among which, 9 were newly identified mutation types. Patients less than 30 years old had more BMPR2 mutations (44 vs. 14%; p = 0.04) and a higher mPAP (64 vs. 50 mmHg; p = 0.04) compared with those equaled to or over 30 years old. There were no differences in hemodynamic profiles or the proportion of BMPR2 mutation carriers between groups according to sex. CONCLUSION: The prevalence of BMPR2 mutations in Korean IPAH patients was 22%. Mutation carriers were younger and had a poorer hemodynamic profile compared with the non-carriers. CLINICAL TRIAL REGISTRATION: Clinicaltrials.gov NCT01054105.
Jang et al. (Wed,) conducted a cohort in Idiopathic pulmonary arterial hypertension (n=73). BMPR2 mutation vs. Non-carriers was evaluated on Mean pulmonary arterial pressure (mPAP) in mmHg (p=<0.001). BMPR2 mutation carriers with idiopathic pulmonary arterial hypertension presented at a significantly younger age and had a higher mean pulmonary arterial pressure (63.7 vs. 50.5 mmHg) compared to non-carriers.