PMID- 27053696
DCOM- 20160815
LR  - 20181202
IS  - 1468-201X (Electronic)
IS  - 1355-6037 (Linking)
VI  - 102 Suppl 2
DP  - 2016 May
TI  - 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.
PG  - ii36-41
LID - 10.1136/heartjnl-2014-307238 [doi]
AB  - Childhood-onset pulmonary arterial hypertension (PAH) is considered complex and
      multifactorial, with relatively poor estimates of the natural history of the
      disease. Strategies allowing earlier detection, establishment of disease
      aetiology together with more accurate and sensitive biomarkers could enable
      better estimates of prognosis and individualise therapeutic strategies. Evidence 
      is accumulating that genetic defects play an important role in the pathogenesis
      of idiopathic and hereditary forms of PAH. Altogether nine genes have been
      reported so far to be associated with childhood onset PAH suggesting that
      comprehensive multigene diagnostics can be useful in the assessment.
      Identification of disease-causing mutations allows estimates of prognosis and
      forms the most effective way for risk stratification in the family. In addition
      to genetic determinants the analysis of blood biomarkers are increasingly used in
      clinical practice to evaluate disease severity and treatment responses. As in
      genetic diagnostics, a multiplex approach can be helpful, as a single biomarker
      for PAH is unlikely to meet all requirements. This consensus statement reviews
      the current evidence for the use of genetic diagnostics and use of blood
      biomarkers in the assessment of paediatric patients with PAH.
CI  - Published by the BMJ Publishing Group Limited. For permission to use (where not
      already granted under a licence) please go to
FAU - Pattathu, Joseph
AU  - Pattathu J
AD  - Department of Paediatric Cardiology, University of Heidelberg, Heidelberg,
FAU - Gorenflo, Matthias
AU  - Gorenflo M
AD  - Department of Paediatric Cardiology, University of Heidelberg, Heidelberg,
FAU - Hilgendorff, Anne
AU  - Hilgendorff A
AD  - Perinatal Center Grosshadern, Dr. von Haunersches Children`s Hospital,
      Ludwig-Maximilians-University, Munich, Germany.
FAU - Koskenvuo, Juha W
AU  - Koskenvuo JW
AD  - Department of Clinical Physiolology, University Hospital Helsinki, University of 
      Helsinki, Helsinki, Finland Blueprint Genetics, Biomedicum Helsinki, Helsinki,
FAU - Apitz, Christian
AU  - Apitz C
AD  - Paediatric Heart Centre, University Hopsital of Giessen and Marburg, Giessen,
FAU - Hansmann, Georg
AU  - Hansmann G
AD  - Department of Paediatric Cardiology and Critical Care, Hannover Medical School,
      Hannover, Germany.
FAU - Alastalo, Tero-Pekka
AU  - Alastalo TP
AD  - Blueprint Genetics, Biomedicum Helsinki, Helsinki, Finland Department of
      Paediatric Cardiology, Childrens Hospital Helsinki, University of Helsinki,
      Helsinki, Finland.
LA  - eng
PT  - Journal Article
PT  - Practice Guideline
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Heart
JT  - Heart (British Cardiac Society)
JID - 9602087
RN  - 0 (Antigens, CD)
RN  - 0 (Biomarkers)
RN  - 0 (CAV1 protein, human)
RN  - 0 (Caveolin 1)
RN  - 0 (ENG protein, human)
RN  - 0 (Endoglin)
RN  - 0 (Endothelins)
RN  - 0 (GDF15 protein, human)
RN  - 0 (Galectin 3)
RN  - 0 (Growth Differentiation Factor 15)
RN  - 0 (NOTCH3 protein, human)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (Peptide Fragments)
RN  - 0 (Potassium Channels, Tandem Pore Domain)
RN  - 0 (Receptor, Notch3)
RN  - 0 (Receptors, Cell Surface)
RN  - 0 (Receptors, Notch)
RN  - 0 (SMAD9 protein, human)
RN  - 0 (Smad8 Protein)
RN  - 0 (Troponin T)
RN  - 0 (pro-brain natriuretic peptide (1-76))
RN  - 114471-18-0 (Natriuretic Peptide, Brain)
RN  - 1HQ3YCN4GS (potassium channel subfamily K member 3)
RN  - 268B43MJ25 (Uric Acid)
RN  - 85637-73-6 (Atrial Natriuretic Factor)
RN  - 9007-41-4 (C-Reactive Protein)
RN  - EC (EIF2AK4 protein, human)
RN  - EC (Protein-Serine-Threonine Kinases)
RN  - EC (ACVRL1 protein, human)
RN  - EC (Activin Receptors, Type II)
RN  - EC (Bone Morphogenetic Protein Receptors)
SB  - IM
MH  - Activin Receptors, Type II/genetics
MH  - Adolescent
MH  - Antigens, CD/genetics
MH  - Atrial Natriuretic Factor/blood
MH  - Biomarkers/*blood
MH  - Bone Morphogenetic Protein Receptors/genetics
MH  - C-Reactive Protein/metabolism
MH  - Caveolin 1/genetics
MH  - Child
MH  - Consensus
MH  - Disease Management
MH  - Endoglin
MH  - Endothelial Cells/cytology
MH  - Endothelins/blood
MH  - Familial Primary Pulmonary Hypertension/blood/*diagnosis/genetics
MH  - Galectin 3/blood
MH  - *Genetic Testing
MH  - Growth Differentiation Factor 15/blood
MH  - Humans
MH  - Hypertension, Pulmonary/blood/diagnosis/genetics
MH  - Natriuretic Peptide, Brain/blood
MH  - Nerve Tissue Proteins/genetics
MH  - Peptide Fragments/blood
MH  - Potassium Channels, Tandem Pore Domain/genetics
MH  - Prognosis
MH  - Protein-Serine-Threonine Kinases/genetics
MH  - Receptor, Notch3
MH  - Receptors, Cell Surface/genetics
MH  - Receptors, Notch/genetics
MH  - Smad8 Protein/genetics
MH  - Troponin T/blood
MH  - Uric Acid/blood
EDAT- 2016/04/08 06:00
MHDA- 2016/08/16 06:00
CRDT- 2016/04/08 06:00
PHST- 2014/11/26 00:00 [received]
PHST- 2015/02/13 00:00 [accepted]
PHST- 2016/04/08 06:00 [entrez]
PHST- 2016/04/08 06:00 [pubmed]
PHST- 2016/08/16 06:00 [medline]
AID - heartjnl-2014-307238 [pii]
AID - 10.1136/heartjnl-2014-307238 [doi]
PST - ppublish
SO  - Heart. 2016 May;102 Suppl 2:ii36-41. doi: 10.1136/heartjnl-2014-307238.