Why the study?
Does genetic screening identify differences in TGFß gene mutations and clinical status between children with I/HPAH and CHD-APAH?
Population
40 consecutive children with invasively diagnosed idiopathic or heritable pulmonary arterial hypertension or…
Comparison
Systematic screening for mutations in TGFß… vs I/HPAH vs CHD-APAH.
Design
Cohort
Authors
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TGFß mutations associate with lower PVR in pediatric PAH; leaves open whether screening improves risk stratification or outcomes.
Does genetic screening identify differences in TGFß gene mutations and clinical status between children with I/HPAH and CHD-APAH?
Genetic analysis reveals TGFß gene mutations in over a quarter of children with I/HPAH and nearly a fifth with CHD-APAH, which correlates with lower pulmonary vascular resistance.
Pfarr et al. (2013) studied this question.
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