메뉴 건너뛰기




Volumn 47, Issue 2, 2016, Pages 541-552

Genetic counselling in a national referral centre for pulmonary hypertension

Author keywords

[No Author keywords available]

Indexed keywords

ACVRL1 GENE; ADULT; ARTICLE; BMPR2 GENE; CAV 1 GENE; CONTROLLED STUDY; EIF2AK4 GENE; ENG GENE; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; GENETIC COUNSELING; GENETIC IDENTIFICATION; GENETIC PREDISPOSITION; GENETIC SCREENING; HEALTH CARE FACILITY; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; KCNK3 GENE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PULMONARY HYPERTENSION; PULMONARY VENO-OCCLUSIVE DISEASE; RELATIVE; SMAD9 GENE; ASYMPTOMATIC DISEASE; FAMILY; FRANCE; GENETICS; MUTATION; PREIMPLANTATION GENETIC DIAGNOSIS; PROCEDURES; TERTIARY CARE CENTER;

EID: 84958093345     PISSN: 09031936     EISSN: 13993003     Source Type: Journal    
DOI: 10.1183/13993003.00717-2015     Document Type: Article
Times cited : (88)

References (39)
  • 1
    • 4644290657 scopus 로고    scopus 로고
    • Treatment of pulmonary arterial hypertension
    • Humbert M, Sitbon O, Simonneau G. Treatment of pulmonary arterial hypertension. N Engl J Med 2004; 351: 1425-1436.
    • (2004) N Engl J Med , vol.351 , pp. 1425-1436
    • Humbert, M.1    Sitbon, O.2    Simonneau, G.3
  • 2
    • 84958184473 scopus 로고    scopus 로고
    • 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension
    • in press
    • Galiè N, Humbert M, Vachiery J-L, et al. 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Heart J 2015; in press [DOI: 10.1093/eurheartj/ehv317].
    • (2015) Eur Heart J
    • Galiè, N.1    Humbert, M.2    Vachiery, J.-L.3
  • 3
    • 84943272997 scopus 로고    scopus 로고
    • 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension
    • Galiè N, Humbert M, Vachiery J-L, et al. 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Respir J 2015; 46: 903-975.
    • (2015) Eur Respir J , vol.46 , pp. 903-975
    • Galiè, N.1    Humbert, M.2    Vachiery, J.-L.3
  • 4
    • 67649579669 scopus 로고    scopus 로고
    • Updated clinical classification of pulmonary hypertension
    • Simonneau G, Robbins IM, Beghetti M, et al. Updated clinical classification of pulmonary hypertension. J Am Coll Cardiol 2009; 54: S43-S54.
    • (2009) J Am Coll Cardiol , vol.54 , pp. S43-S54
    • Simonneau, G.1    Robbins, I.M.2    Beghetti, M.3
  • 5
    • 70449671451 scopus 로고
    • Recent studies in primary pulmonary hypertension, including pharmacodynamic observations on pulmonary vascular resistance
    • Dresdale DT, Michtom RJ, Schultz M. Recent studies in primary pulmonary hypertension, including pharmacodynamic observations on pulmonary vascular resistance. Bull N Y Acad Med 1954; 30: 195-207.
    • (1954) Bull N y Acad Med , vol.30 , pp. 195-207
    • Dresdale, D.T.1    Michtom, R.J.2    Schultz, M.3
  • 6
    • 84868273339 scopus 로고    scopus 로고
    • Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension
    • 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.
    • (2012) Am J Respir Crit Care Med , vol.186 , pp. 892-896
    • Larkin, E.K.1    Newman, J.H.2    Austin, E.D.3
  • 7
    • 0031019091 scopus 로고    scopus 로고
    • Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32
    • Nichols WC, Koller DL, Slovis B, et al. Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32. Nat Genet 1997; 15: 277-280.
    • (1997) Nat Genet , vol.15 , pp. 277-280
    • Nichols, W.C.1    Koller, D.L.2    Slovis, B.3
  • 8
    • 0030956055 scopus 로고    scopus 로고
    • Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32
    • Morse JH, Jones AC, Barst RJ, et al. Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32. Circulation 1997; 95: 2603-2606.
    • (1997) Circulation , vol.95 , pp. 2603-2606
    • Morse, J.H.1    Jones, A.C.2    Barst, R.J.3
  • 9
    • 0033817459 scopus 로고    scopus 로고
    • Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension
    • Lane KB, Machado RD, Pauciulo MW, et al. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nat Genet 2000; 26: 81-84.
    • (2000) Nat Genet , vol.26 , pp. 81-84
    • Lane, K.B.1    Machado, R.D.2    Pauciulo, M.W.3
  • 10
    • 0033838125 scopus 로고    scopus 로고
    • Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene
    • Deng Z, Morse JH, Slager SL, et al. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet 2000; 67: 737-744.
    • (2000) Am J Hum Genet , vol.67 , pp. 737-744
    • Deng, Z.1    Morse, J.H.2    Slager, S.L.3
  • 11
    • 21344455768 scopus 로고    scopus 로고
    • BMP receptor signaling: Transcriptional targets, regulation of signals, and signaling cross-talk
    • Miyazono K, Maeda S, Imamura T. BMP receptor signaling: transcriptional targets, regulation of signals, and signaling cross-talk. Cytokine Growth Factor Rev 2005; 16: 251-263.
    • (2005) Cytokine Growth Factor Rev , vol.16 , pp. 251-263
    • Miyazono, K.1    Maeda, S.2    Imamura, T.3
  • 12
    • 0032718990 scopus 로고    scopus 로고
    • Roles of bone morphogenetic protein type I receptors and Smad proteins in osteoblast and chondroblast differentiation
    • Fujii M, Takeda K, Imamura T, et al. Roles of bone morphogenetic protein type I receptors and Smad proteins in osteoblast and chondroblast differentiation. Mol Biol Cell 1999; 10: 3801-3813.
    • (1999) Mol Biol Cell , vol.10 , pp. 3801-3813
    • Fujii, M.1    Takeda, K.2    Imamura, T.3
  • 13
    • 84890753066 scopus 로고    scopus 로고
    • Relevant issues in the pathology and pathobiology of pulmonary hypertension
    • Tuder RM, Archer SL, Dorfmüller P, et al. Relevant issues in the pathology and pathobiology of pulmonary hypertension. J Am Coll Cardiol 2013; 62: D4-D12.
    • (2013) J Am Coll Cardiol , vol.62 , pp. D4-D12
    • Tuder, R.M.1    Archer, S.L.2    Dorfmüller, P.3
  • 14
    • 67649573380 scopus 로고    scopus 로고
    • Genetics and genomics of pulmonary arterial hypertension
    • Machado RD, Eickelberg O, Elliott CG, et al. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol 2009; 54: S32-S42.
    • (2009) J Am Coll Cardiol , vol.54 , pp. S32-S42
    • Machado, R.D.1    Eickelberg, O.2    Elliott, C.G.3
  • 15
    • 43949131056 scopus 로고    scopus 로고
    • Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension
    • 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.
    • (2008) J Heart Lung Transplant , vol.27 , pp. 668-674
    • Rosenzweig, E.B.1    Morse, J.H.2    Knowles, J.A.3
  • 16
    • 77953067153 scopus 로고    scopus 로고
    • Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation
    • 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.
    • (2010) Am J Respir Crit Care Med , vol.181 , pp. 851-861
    • Girerd, B.1    Montani, D.2    Coulet, F.3
  • 17
    • 35349002697 scopus 로고    scopus 로고
    • Characterization of the BMPR2 5′-untranslated region and a novel mutation in pulmonary hypertension
    • Aldred MA, Machado RD, James V, et al. Characterization of the BMPR2 5′-untranslated region and a novel mutation in pulmonary hypertension. Am J Respir Crit Care Med 2007; 176: 819-824.
    • (2007) Am J Respir Crit Care Med , vol.176 , pp. 819-824
    • Aldred, M.A.1    Machado, R.D.2    James, V.3
  • 18
    • 33748314526 scopus 로고    scopus 로고
    • High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension
    • Cogan JD, Pauciulo MW, Batchman AP, et al. High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension. Am J Respir Crit Care Med 2006; 174: 590-598.
    • (2006) Am J Respir Crit Care Med , vol.174 , pp. 590-598
    • Cogan, J.D.1    Pauciulo, M.W.2    Batchman, A.P.3
  • 19
    • 84946576433 scopus 로고    scopus 로고
    • Pulmonary arterial hypertension: A current perspective on established and emerging molecular genetic defects
    • Machado RD, Southgate L, Eichstaedt CA, et al. Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects. Hum Mutat 2015; 36: 1113-1127.
    • (2015) Hum Mutat , vol.36 , pp. 1113-1127
    • Machado, R.D.1    Southgate, L.2    Eichstaedt, C.A.3
  • 20
    • 0346943954 scopus 로고    scopus 로고
    • Familial and sporadic primary pulmonary hypertension is caused by BMPR2 gene mutations resulting in haploinsufficiency of the bone morphogenetic protein type II receptor
    • Thomson J, Machado R, Pauciulo M, et al. Familial and sporadic primary pulmonary hypertension is caused by BMPR2 gene mutations resulting in haploinsufficiency of the bone morphogenetic protein type II receptor. J Heart Lung Transplant 2001; 20: 149.
    • (2001) J Heart Lung Transplant , vol.20 , pp. 149
    • Thomson, J.1    Machado, R.2    Pauciulo, M.3
  • 21
    • 2442519516 scopus 로고    scopus 로고
    • Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension
    • 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.
    • (2004) Thorax , vol.59 , pp. 446-448
    • Chaouat, A.1    Coulet, F.2    Favre, C.3
  • 22
    • 81255136932 scopus 로고    scopus 로고
    • Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension
    • Nasim MT, Ogo T, Ahmed M, et al. Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension. Hum Mutat 2011; 32: 1385-1389.
    • (2011) Hum Mutat , vol.32 , pp. 1385-1389
    • Nasim, M.T.1    Ogo, T.2    Ahmed, M.3
  • 23
    • 66249125359 scopus 로고    scopus 로고
    • A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension
    • Shintani M, Yagi H, Nakayama T, et al. A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. J Med Genet 2009; 46: 331-337.
    • (2009) J Med Genet , vol.46 , pp. 331-337
    • Shintani, M.1    Yagi, H.2    Nakayama, T.3
  • 24
    • 84864330965 scopus 로고    scopus 로고
    • Whole exome sequencing to identify a novel gene (Caveolin-1) associated with human pulmonary arterial hypertension
    • 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.
    • (2012) Circ Cardiovasc Genet , vol.5 , pp. 336-343
    • Austin, E.D.1    Ma, L.2    LeDuc, C.3
  • 25
    • 84880704857 scopus 로고    scopus 로고
    • A novel channelopathy in pulmonary arterial hypertension
    • Ma L, Roman-Campos D, Austin ED, et al. A novel channelopathy in pulmonary arterial hypertension. N Engl J Med 2013; 369: 351-361.
    • (2013) N Engl J Med , vol.369 , pp. 351-361
    • Ma, L.1    Roman-Campos, D.2    Austin, E.D.3
  • 28
    • 49149084337 scopus 로고    scopus 로고
    • Pulmonary veno-occlusive disease: Clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology
    • Montani D, Achouh L, Dorfmüller P, et al. Pulmonary veno-occlusive disease: clinical, functional, radiologic, and hemodynamic characteristics and outcome of 24 cases confirmed by histology. Medicine (Baltimore) 2008; 87: 220-233.
    • (2008) Medicine (Baltimore) , vol.87 , pp. 220-233
    • Montani, D.1    Achouh, L.2    Dorfmüller, P.3
  • 29
    • 84891373442 scopus 로고    scopus 로고
    • EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension
    • 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.
    • (2014) Nat Genet , vol.46 , pp. 65-69
    • Eyries, M.1    Montani, D.2    Girerd, B.3
  • 30
    • 0037151645 scopus 로고    scopus 로고
    • Long-term intravenous epoprostenol infusion in primary pulmonary hypertension: Prognostic factors and survival
    • Sitbon O, Humbert M, Nunes H, et al. Long-term intravenous epoprostenol infusion in primary pulmonary hypertension: prognostic factors and survival. J Am Coll Cardiol 2002; 40: 780-788.
    • (2002) J Am Coll Cardiol , vol.40 , pp. 780-788
    • Sitbon, O.1    Humbert, M.2    Nunes, H.3
  • 31
    • 20544448927 scopus 로고    scopus 로고
    • Long-term response to calcium channel blockers in idiopathic pulmonary arterial hypertension
    • 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.
    • (2005) Circulation , vol.111 , pp. 3105-3111
    • Sitbon, O.1    Humbert, M.2    Jaïs, X.3
  • 32
    • 84907554321 scopus 로고    scopus 로고
    • Mechanisms of exertional dyspnoea in pulmonary veno-occlusive disease with EIF2AK4 mutations
    • Laveneziana P, Montani D, Dorfmüller P, et al. Mechanisms of exertional dyspnoea in pulmonary veno-occlusive disease with EIF2AK4 mutations. Eur Respir J 2014; 44: 1069-1072.
    • (2014) Eur Respir J , vol.44 , pp. 1069-1072
    • Laveneziana, P.1    Montani, D.2    Dorfmüller, P.3
  • 33
    • 84929493674 scopus 로고    scopus 로고
    • Characteristics of pulmonary arterial hypertension in affected carriers of a mutation located in the cytoplasmic tail of bone morphogenetic protein receptor type 2
    • Girerd B, Coulet F, Jaïs X, et al. Characteristics of pulmonary arterial hypertension in affected carriers of a mutation located in the cytoplasmic tail of bone morphogenetic protein receptor type 2. Chest 2015; 147: 1385-1394.
    • (2015) Chest , vol.147 , pp. 1385-1394
    • Girerd, B.1    Coulet, F.2    Jaïs, X.3
  • 34
    • 44949197649 scopus 로고    scopus 로고
    • Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation
    • 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.
    • (2008) Am J Respir Crit Care Med , vol.177 , pp. 1377-1383
    • Sztrymf, B.1    Coulet, F.2    Girerd, B.3
  • 35
    • 45249119855 scopus 로고    scopus 로고
    • Treatment of patients with mildly symptomatic pulmonary arterial hypertension with bosentan (EARLY study): A double-blind, randomised controlled trial
    • Galiè N, Rubin L, Hoeper M, et al. Treatment of patients with mildly symptomatic pulmonary arterial hypertension with bosentan (EARLY study): a double-blind, randomised controlled trial. Lancet 2008; 371: 2093-2100.
    • (2008) Lancet , vol.371 , pp. 2093-2100
    • Galiè, N.1    Rubin, L.2    Hoeper, M.3
  • 36
    • 84890687841 scopus 로고    scopus 로고
    • Genetics and genomics of pulmonary arterial hypertension
    • Soubrier F, Chung WK, Machado R, et al. Genetics and genomics of pulmonary arterial hypertension. J Am Coll Cardiol 2013; 62: D13-D21.
    • (2013) J Am Coll Cardiol , vol.62 , pp. D13-D21
    • Soubrier, F.1    Chung, W.K.2    Machado, R.3
  • 37
    • 84861850389 scopus 로고    scopus 로고
    • Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation
    • Frydman N, Steffann J, Girerd B, et al. Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation. Eur Respir J 2012; 39: 1534-1535.
    • (2012) Eur Respir J , vol.39 , pp. 1534-1535
    • Frydman, N.1    Steffann, J.2    Girerd, B.3
  • 38
    • 0033623296 scopus 로고    scopus 로고
    • Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family
    • Thomson JR, Machado RD, Pauciulo MW, et al. Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. J Med Genet 2000; 37: 741-745.
    • (2000) J Med Genet , vol.37 , pp. 741-745
    • Thomson, J.R.1    Machado, R.D.2    Pauciulo, M.W.3
  • 39
    • 80155127921 scopus 로고    scopus 로고
    • Screening for pulmonary arterial hypertension in patients with systemic sclerosis: Clinical characteristics at diagnosis and long-term survival
    • Humbert M, Yaici A, de Groote P, et al. Screening for pulmonary arterial hypertension in patients with systemic sclerosis: clinical characteristics at diagnosis and long-term survival. Arthritis Rheum 2011; 63: 3522-3530.
    • (2011) Arthritis Rheum , vol.63 , pp. 3522-3530
    • Humbert, M.1    Yaici, A.2    De Groote, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.