Genetic analyses in a cohort of children with pulmonary hypertension

European Respiratory Journal

Volumn 48, Issue 4, 2016, Pages 1118-1126

  Levy, Marilyne ^a,b   Eyries, Mélanie ^c,d,e   Szezepanski, Isabelle ^a,b   Ladouceur, Magalie ^a,b   Nadaud, Sophie ^d,e   Bonnet, Damien ^a,b   Soubrier, Florent ^c,d,e  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e ICAN Institute for Cardiometabolism and Nutrition   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN RECEPTOR LIKE KINASE 1; BONE MORPHOGENETIC PROTEIN RECEPTOR 2; ACTIVIN RECEPTOR 2; ACVRL1 PROTEIN, HUMAN; BMPR2 PROTEIN, HUMAN; T BOX TRANSCRIPTION FACTOR; TBX4 PROTEIN, HUMAN;

ACVRL1 GENE; ARTICLE; BMPR2 GENE; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; EIF2AK4 GENE; ESSENTIAL HYPERTENSION; EVENT FREE SURVIVAL; FEMALE; GENE; GENE IDENTIFICATION; GENE REARRANGEMENT; GENETIC ASSOCIATION; HEREDITARY HYPERTENSION; HUMAN; LUNG ARTERY PRESSURE; LUNG WEDGE PRESSURE; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; PULMONARY VENO-OCCLUSIVE DISEASE; RETROSPECTIVE STUDY; TBX4 GENE; ADOLESCENT; COHORT ANALYSIS; COMPLICATION; CONGENITAL HEART MALFORMATION; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION; GENETICS; HEMODYNAMICS; HETEROZYGOTE; MUTATION; PEDIGREE; PRESCHOOL CHILD; PULMONARY HYPERTENSION; TREATMENT OUTCOME;

ACTIVIN RECEPTORS, TYPE II; ADOLESCENT; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE II; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FAMILIAL PRIMARY PULMONARY HYPERTENSION; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEART DEFECTS, CONGENITAL; HEMODYNAMICS; HETEROZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; PULMONARY VENO-OCCLUSIVE DISEASE; T-BOX DOMAIN PROTEINS; TREATMENT OUTCOME;

EID: 84990036785     PISSN: 09031936     EISSN: 13993003     Source Type: Journal    
DOI: 10.1183/13993003.00211-2016     Document Type: Article

References (29)

1. Rabinovitch M. Molecular pathogenesis of pulmonary arterial hypertension. J Clin Invest 2008; 118: 2372-2379.
2. Rubin LJ. Primary pulmonary hypertension. N Engl J Med 1997; 336: 111-117.
3. Yung D, Widlitz AC, Rosenzweig EB, et al. Outcomes in children with idiopathic pulmonary arterial hypertension. Circulation 2004; 110: 660-665.
4. Simonneau G, Gatzoulis MA, Adatia I, et al. Updated clinical classification of pulmonary hypertension. J Am Coll Cardiol 2013; 62 Suppl. 25, D34-D41.
5. Humbert M, Sitbon O, Chaouat A, et al. Pulmonary arterial hypertension in France: results from a national registry. Am J Respir Crit Care Med 2006; 173: 1023-1030.
6. Berger RMF, Beghetti M, Humpl T, et al. Clinical features of paediatric pulmonary hypertension: a registry study. Lancet 2012; 379: 537-546.
7. Sztrymf B, Coulet F, Girerd B, et al. Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation. Am J Respir Crit Care Med 2008; 177: 1377-1383.
8. Girerd B, Montani D, Eyries M, et al. Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension. Respir Res 2010; 11: 73.
9. Larkin EK, Newman JH, Austin ED, et al. Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension. Am J Respir Crit Care Med 2012; 186: 892-896.
10. Girerd B, Montani D, Coulet F, et al. Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. Am J Respir Crit Care Med 2010; 181: 851-861.
11. Chaouat A, Coulet F, Favre C, et al. Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension. Thorax 2004; 59: 446-448.
12. Nasim MT, Ogo T, Chowdhury HM, et al. BMPR-II deficiency elicits pro-proliferative and anti-apoptotic responses through the activation of TGFβ-TAK1-MAPK pathways in PAH. Hum Mol Genet 2012; 21: 2548-2558.
13. Austin ED, Ma L, LeDuc C, et al. Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension. Circ Cardiovasc Genet 2012; 5: 336-343.
14. Ma L, Roman-Campos D, Austin ED, et al. A novel channelopathy in pulmonary arterial hypertension. N Engl J Med 2013; 369: 351-361.
15. Kerstjens-Frederikse WS, Bongers EM, Roofthooft MT, et al. TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. J Med Genet 2013; 50: 500-506.
16. Eyries M, Montani D, Girerd B, et al. EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. Nat Genet 2014; 46: 65-69.
17. Best DH, Sumner KL, Austin ED, et al. EIF2AK4 mutations in pulmonary capillary hemangiomatosis. Chest 2014; 145: 231-236.
18. Harrison RE, Berger R, Haworth SG, et al. Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood. Circulation 2005; 111: 435-441.
19. Rosenzweig EB, Morse JH, Knowles JA, et al. Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension. J Heart Lung Transplant 2008; 27: 668-674.
20. Pfarr N, Fischer C, Ehlken N, et al. Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension. Respir Res 2013; 14: 3.
21. Fujiwara M, Yagi H, Matsuoka R, et al. Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension. Circ J 2008; 72: 127-133.
22. Chida A, Shintani M, Yagi H, et al. Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers. Am J Cardiol 2012; 110: 586-593.
23. Ivy DD, Abman SH, Barst RJ, et al. Pediatric pulmonary hypertension. J Am Coll Cardiol 2013; 62: Suppl. 25, D117-D126.
24. Roberts KE, McElroy JJ, Wong WP, et al. BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease. Eur Respir J 2004; 24: 371-374.
25. Smadja DM, Gaussem P, Mauge L, et al. Circulating endothelial cells: a new candidate biomarker of irreversible pulmonary hypertension secondary to congenital heart disease. Circulation 2009; 119: 374-381.
26. Sitbon O, Humbert M, Jaïs X, et al. Long-term response to calcium channel blockers in idiopathic pulmonary arterial hypertension. Circulation 2005; 111: 3105-3111.
27. Girerd B, Montani D, Jaïs X, et al. Genetic counselling in a national referral centre for pulmonary hypertension. Eur Respir J 2016; 47: 541-552.
28. Elliott CG, Glissmeyer EW, Havlena GT, et al. Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension. Circulation 2006; 113: 2509-2515.
29. Evans JD, Girerd B, Montani D, et al. BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis. Lancet Respir Med 2016; 4: 129-137.