MiscellaneousOutcomes of Childhood Pulmonary Arterial Hypertension in BMPR2 and ALK1 Mutation Carriers
Section snippets
Methods
Fifty-seven unrelated patients aged ≤15 years at diagnosis with PAH were selected from 19 hospitals throughout Japan and China (Figure 1). There was no duplication in this selection process. Some of these patients have been described in previous reports.8, 10, 11 Written informed consent was obtained from guardians of all study subjects in accordance with the Declaration of Helsinki. We assessed each patient by clinical history, physical examination, current therapy, 6-minute walking distance,
Results
From January 1, 1995, to March 31, 2011, 54 pediatric patients with IPAH or HPAH, corresponding to 24 male and 30 female patients, were included in this analysis. Eighteen (33%) were BMPR2 mutation carriers, 7 (13%) were ALK1 mutation carriers, and the rest were without these mutations (Figure 1, Table 1). The average age at diagnosis was 8.5 years, and there was no significant difference in ages among the 3 groups. Familial cases in ALK1 mutation carriers were largest in these groups. No
Discussion
We studied 54 patients with HPAH or IPAH whose onset of disease was at ≤15 years of age. Overall 5-year survival for all patients was 76%. This result was similar to that of recent studies.26, 27 In this study, hemodynamic and clinical characteristics of significant gene mutation carriers and noncarriers were compared. We demonstrated that BMPR2 mutation carriers have more severe overall mortality than mutation noncarriers, despite similar therapeutic approaches, hemodynamic parameters, brain
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