Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood

TY - JOUR

T1 - Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood

AU - Harrison, R E

AU - Berger, R

AU - Haworth, S G

AU - Tulloh, R

AU - Mache, C J

AU - Morrell, N W

AU - Aldred, M A

AU - Trembath, R C

PY - 2005/2/1

Y1 - 2005/2/1

N2 - Background - Pulmonary arterial hypertension (PAH) is a potentially fatal vasculopathy that can develop at any age. Adult-onset disease has previously been associated with mutations in BMPR2 and ALK-1. Presentation in early life may be associated with congenital heart disease but frequently is idiopathic. Methods and Results - We performed mutation analysis in genes encoding receptor members of the transforming growth factor-beta cell-signaling pathway in 18 children (age at presentation

AB - Background - Pulmonary arterial hypertension (PAH) is a potentially fatal vasculopathy that can develop at any age. Adult-onset disease has previously been associated with mutations in BMPR2 and ALK-1. Presentation in early life may be associated with congenital heart disease but frequently is idiopathic. Methods and Results - We performed mutation analysis in genes encoding receptor members of the transforming growth factor-beta cell-signaling pathway in 18 children (age at presentation

U2 - 10.1161/01.CIR.0000153798.78540.87

DO - 10.1161/01.CIR.0000153798.78540.87

M3 - Article

SN - 1524-4539

VL - 111

SP - 435

EP - 441

JO - Circulation (Baltimore)

JF - Circulation (Baltimore)

IS - 4

ER -