Table 1

Recommendations on the use of genetic testing and biomarkers in children with pulmonary hypertension

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  • ACVRL1 (ALK1) activin-like kinase-type 1; BMPR2, bone morphogenetic protein receptor 2; BNP, brain natriuretic peptide; CAV1, caveolin 1; CHD, congenital heart disease; COR, class of recommendation; EIF2AK4, eukaryotic translation initiation factor 2-α kinase 4; ENG, endoglin; HPAH, hereditary pulmonary hypertension; IPAH, idiopathic pulmonary arterial hypertension; KCNK3, potassium channel subfamily K, member 3; LOE, level of evidence; NGS, next generation sequencing; NT-proBNP, N-terminal fragment of probrain natriuretic peptide; PH, pulmonary hypertension; PVOD, pulmonary veno-occlusive disease; Definitions for COR and LOE classes can be found in our executive summary table 1 (LINK).