Pulmonary hypertensionClinical Implications of Determining BMPR2 Mutation Status in a Large Cohort of Children and Adults With Pulmonary Arterial Hypertension
Section snippets
Methods
We studied a cohort of consecutive pediatric and adult patients referred to the New York Presbyterian Pulmonary Hypertension Center between 1991 and 2005, in whom a diagnosis of IPAH or FPAH was confirmed according to the World Health Organization's Venice 2003 Pulmonary Hypertension Symposium consensus.12 Blood samples for genetic studies and detailed family histories were obtained for all patients. Patients were excluded if they did not provide a blood sample or have hemodynamic acute
Patient Population
In total, 147 patients (69 adults, 78 children; 98 females [67%]) were comprised the study population, which included 114 IPAH patients (49 adults, 65 children) and 33 FPAH patients (20 adults, 13 children). Patients ≥18 years of age were classified as adults. Age at baseline catheterization was 42 ± 12 years for adults (range 20 to 66 years) and 8 ± 5 years for children (range 4 months to 17.8 years) (Table 1).
Acute Vasoreactivity and BMPR2
Among the total population of 147 patients, 42 (29%) were acute responders and 105
Discussion
In a large cohort of IPAH and FPAH children and adults, those with BMPR2 mutations were less likely to respond to acute vasodilator testing than BMPR2-negative patients. Our data are consistent with results reported by Elliott et al in an adult cohort.11 In addition, these findings support the potential of using genetics in selection of a medical regimen for individual PAH patients. IPAH/FPAH patients with a robust acute vasodilator testing response can often be treated with CCB and, overall,
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Supported by Grant No. HL-060056 from the NIH-NHLBI (to J.H.M.).