Genetic testing and blood biomarkers in paediatric pulmonary hypertension. Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK

Executive summary. Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK

“…Within the multipaper concept, we divided the topics as they relate to the ‘syndrome paediatric PH’ by the clinical scenario they usually occur in real life, that is, general recommendations on diagnosis/monitoring;21 specific diagnostics tools, that is, biomarker/genetics;22 cardiac catheterisation;23 echocardiography;24 and cardiac magnetic resonance/CT 25…”

“…The complete list of references on the above subtopic can be found in ref. 22.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 arterial 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 pro-brain natriuretic peptide; PH, pulmonary hypertension; PVOD, pulmonary veno-occlusive disease.…”

2019 updated consensus statement on the diagnosis and treatment of pediatric pulmonary hypertension: The European Pediatric Pulmonary Vascular Disease Network (EPPVDN), endorsed by AEPC, ESPR and ISHLT

“…A general discussion on genetic counseling/testing and biomarkers in pediatric PAH can be found elsewhere. 20 The WSPH 2018 task force on genetics and genomics in PH estimated that approximately 25%−30% of patients diagnosed with IPAH have an underlying Mendelian genetic cause for their condition and should more accurately be classified as HPAH (with an identified pathogenic gene variant). 21 Down syndromerelated PH varies in terms of etiology and severity, and-in the absence of CHD (Group 1 or Group 2)-should be classified as Group 3 PH (Supplementary Tables S1 and S10 online).…”

Treatment of pediatric pulmonary arterial hypertension: A focus on the NO‐sGC‐cGMP pathway

“…Biomarkers, such as brain natriuretic peptide (BNP) and N ‐terminal prohormone of BNP (NT‐proBNP), are correlated with hemodynamics and right ventricular function and can be used to assess disease severity and prognosis, and to define treatment goals . The prognosis of pediatric PAH varies widely depending on etiology, with better survival in iPAH than in associated PAH .…”