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Volumn 8, Issue 3, 2015, Pages 529-536

History of Our Understanding of the Causes of Congenital Heart Disease

Author keywords

causation; congenital heart disease; genetics; history

Indexed keywords

ARTICLE; BICUSPID AORTIC VALVE; CARDIOLOGIST; CARDIOPULMONARY HEMODYNAMICS; CARDIOVASCULAR DISEASE; CONGENITAL HEART DISEASE; ENVIRONMENTAL FACTOR; EPIDEMIOLOGY; GENE MUTATION; GENETIC DISORDER; HEMODYNAMIC STRESS; HEREDITY; HUMAN; MOLECULAR GENETICS; PRIORITY JOURNAL; COPY NUMBER VARIATION; DNA SEQUENCE; GENETIC ASSOCIATION; GENETICS; HEART DEFECTS, CONGENITAL; HIGH THROUGHPUT SEQUENCING; HISTORY; RISK FACTOR;

EID: 84936929436     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.115.001058     Document Type: Article
Times cited : (21)

References (57)
  • 1
    • 84860337259 scopus 로고    scopus 로고
    • Early developmental outcome in children with hypoplastic left heart syndrome and related anomalies: The single ventricle reconstruction trial
    • Pediatric Heart Network Investigators
    • Newburger JW, Sleeper LA, Bellinger DC, Goldberg CS, Tabbutt S, Lu M, Pediatric Heart Network Investigators Early developmental outcome in children with hypoplastic left heart syndrome and related anomalies: the single ventricle reconstruction trial. Circulation 2012 125 2081 2091. doi: 10.1161/CIRCULATIONAHA.111.064113.
    • (2012) Circulation , vol.125 , pp. 2081-2091
    • Newburger, J.W.1    Sleeper, L.A.2    Bellinger, D.C.3    Goldberg, C.S.4    Tabbutt, S.5    Lu, M.6
  • 3
    • 65749111500 scopus 로고
    • The nineteenth-century physician and cardiologist Thomas Bevill PEACOCK (1812-82)
    • Porter IH., The nineteenth-century physician and cardiologist Thomas Bevill PEACOCK (1812-82). Med Hist 1962 6 240 254
    • (1962) Med Hist , vol.6 , pp. 240-254
    • Porter, I.H.1
  • 4
    • 0025438252 scopus 로고
    • Thomas Bevill Peacock
    • Fye WB., Thomas Bevill Peacock. Clin Cardiol 1990 13 447 448
    • (1990) Clin Cardiol , vol.13 , pp. 447-448
    • Fye, W.B.1
  • 8
    • 77953589813 scopus 로고    scopus 로고
    • The paediatric cardiology Hall of Fame: Maude Elizabeth Abbott
    • Evans WN, Béland MJ., The paediatric cardiology Hall of Fame: Maude Elizabeth Abbott. Cardiol Young 2010 20 124 132
    • (2010) Cardiol Young , vol.20 , pp. 124-132
    • Evans, W.N.1    Béland, M.J.2
  • 9
    • 28444446713 scopus 로고
    • Unique case of malformation of the heart? Defect of the interventricular septum; Rudimentary right ventricles patent foramen ovales great dilation of the right auricle and right auricular appendix
    • Abbott ME., Unique case of malformation of the heart? Defect of the interventricular septum; rudimentary right ventricles patent foramen ovales great dilation of the right auricle and right auricular appendix. Montreal Med J 1901 30 522 532
    • (1901) Montreal Med J , vol.30 , pp. 522-532
    • Abbott, M.E.1
  • 13
    • 84942386507 scopus 로고
    • Surgical ligation of a patent ductus arteriosus
    • Gross RE, Hubbard JP., Surgical ligation of a patent ductus arteriosus. JAMA 1939 112 729 731
    • (1939) JAMA , vol.112 , pp. 729-731
    • Gross, R.E.1    Hubbard, J.P.2
  • 14
    • 33645332975 scopus 로고
    • The surgical treatment of malformations of the heart in which there is pulmonary stenosis or pulmonary atresia
    • Blalock A, Taussig HB., The surgical treatment of malformations of the heart in which there is pulmonary stenosis or pulmonary atresia. JAMA 1945 128 189 202
    • (1945) JAMA , vol.128 , pp. 189-202
    • Blalock, A.1    Taussig, H.B.2
  • 15
    • 33751047709 scopus 로고
    • On the evolution of our knowledge of congenital malformations of the heart; The T. Duckett Jones memorial lecture
    • Taussig HB., On the evolution of our knowledge of congenital malformations of the heart; the T. Duckett Jones memorial lecture. Circulation 1965 31 768 777
    • (1965) Circulation , vol.31 , pp. 768-777
    • Taussig, H.B.1
  • 16
    • 0020421129 scopus 로고
    • World survey of the common cardiac malformations: Developmental error or genetic variant?
    • Taussig HB., World survey of the common cardiac malformations: developmental error or genetic variant? Am J Cardiol 1982 50 544 559
    • (1982) Am J Cardiol , vol.50 , pp. 544-559
    • Taussig, H.B.1
  • 17
    • 84936978584 scopus 로고
    • De cordis conditionibus abnormibus
    • Meckel JF., De cordis conditionibus abnormibus. Halle 1802
    • (1802) Halle
    • Meckel, J.F.1
  • 19
    • 0041589633 scopus 로고
    • Über den Bauplan des normalen und mißbildeten Herzens. Versuch Einer phylogenetischen Theorie
    • Spitzer A., Über den Bauplan des normalen und mißbildeten Herzens. Versuch Einer phylogenetischen Theorie. Virchows Arch Path Anat 1923 243 6 272
    • (1923) Virchows Arch Path Anat , vol.243 , pp. 6-272
    • Spitzer, A.1
  • 20
    • 0023740299 scopus 로고
    • Evolutionary origin of cardiac malformations
    • Taussig HB., Evolutionary origin of cardiac malformations. J Am Coll Cardiol 1988 12 1079 1086
    • (1988) J Am Coll Cardiol , vol.12 , pp. 1079-1086
    • Taussig, H.B.1
  • 21
    • 0345688865 scopus 로고    scopus 로고
    • Maurice Campbell: First editor of heart
    • Silverman ME., Maurice Campbell: first editor of heart. Heart 2003 89 1379 1381
    • (2003) Heart , vol.89 , pp. 1379-1381
    • Silverman, M.E.1
  • 22
    • 0344543209 scopus 로고
    • Valvulotomy for pulmonary valvular stenosis
    • Brock RC, Campbell M., Valvulotomy for pulmonary valvular stenosis. Br Heart J 1950 12 377 402
    • (1950) Br Heart J , vol.12 , pp. 377-402
    • Brock, R.C.1    Campbell, M.2
  • 23
    • 84936944161 scopus 로고
    • Heredity in acholuric jaundice
    • Campbell JMH., Heredity in acholuric jaundice. Q J Med 1926 19 333 355
    • (1926) Q J Med , vol.19 , pp. 333-355
    • Campbell, J.M.H.1
  • 24
    • 0009522093 scopus 로고
    • The response of the respiratory centre to carbonic acid, oxygen, and hydrogen ion concentration
    • Campbell JM, Douglas CG, Haldane JS, Hobson FG., The response of the respiratory centre to carbonic acid, oxygen, and hydrogen ion concentration. J Physiol 1913 46 301 318
    • (1913) J Physiol , vol.46 , pp. 301-318
    • Campbell, J.M.1    Douglas, C.G.2    Haldane, J.S.3    Hobson, F.G.4
  • 25
    • 84944484563 scopus 로고
    • The laws of combination of haemoglobin with carbon monoxide and oxygen
    • Douglas CG, Haldane JS, Haldane JB., The laws of combination of haemoglobin with carbon monoxide and oxygen. J Physiol 1912 44 275 304
    • (1912) J Physiol , vol.44 , pp. 275-304
    • Douglas, C.G.1    Haldane, J.S.2    Haldane, J.B.3
  • 27
    • 84951513390 scopus 로고
    • Reduplication in mice (preliminary communication)
    • Haldane JBS, Sprunt AD, Haldane NM., Reduplication in mice (preliminary communication). J Genet 1915 5 133 135
    • (1915) J Genet , vol.5 , pp. 133-135
    • Haldane, J.B.S.1    Sprunt, A.D.2    Haldane, N.M.3
  • 28
    • 76549209375 scopus 로고
    • Genetic and environmental factors in congenital heart disease
    • Campbell M., Genetic and environmental factors in congenital heart disease. Q J Med 1949 18 379 391
    • (1949) Q J Med , vol.18 , pp. 379-391
    • Campbell, M.1
  • 29
    • 0001977648 scopus 로고
    • Causes of malformations of the heart
    • Campbell M., Causes of malformations of the heart. Br Med J 1965 2 895 904
    • (1965) Br Med J , vol.2 , pp. 895-904
    • Campbell, M.1
  • 30
    • 50449119163 scopus 로고
    • Parental age and mutation
    • Penrose LS., Parental age and mutation. Lancet 1955 269 312 313
    • (1955) Lancet , vol.269 , pp. 312-313
    • Penrose, L.S.1
  • 31
    • 0011334167 scopus 로고
    • Genetic and non-genetic factors in the etiology of congenital heart disease: A study of 1188 cases
    • Lamy M, De Grouchy J, Schweisguth O., Genetic and non-genetic factors in the etiology of congenital heart disease: a study of 1188 cases. Am J Hum Genet 1957 9 17 41
    • (1957) Am J Hum Genet , vol.9 , pp. 17-41
    • Lamy, M.1    De Grouchy, J.2    Schweisguth, O.3
  • 32
    • 73049121184 scopus 로고
    • Research on the etiology of congenital angiocardiopathy
    • Fuhrmann W., Research on the etiology of congenital angiocardiopathy. Acta Genet Stat Med 1961 11 289 316
    • (1961) Acta Genet Stat Med , vol.11 , pp. 289-316
    • Fuhrmann, W.1
  • 33
    • 0014334454 scopus 로고
    • Multifactorial inheritance hypothesis for the etiology of congenital heart diseases the genetic-environmental interaction
    • Nora JJ., Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic-environmental interaction. Circulation 1968 38 604 617
    • (1968) Circulation , vol.38 , pp. 604-617
    • Nora, J.J.1
  • 35
    • 0020440524 scopus 로고
    • Pregnancy and its outcome in women with and without surgical treatment of congenital heart disease
    • Whittemore R, Hobbins JC, Engle MA., Pregnancy and its outcome in women with and without surgical treatment of congenital heart disease. Am J Cardiol 1982 50 641 651
    • (1982) Am J Cardiol , vol.50 , pp. 641-651
    • Whittemore, R.1    Hobbins, J.C.2    Engle, M.A.3
  • 36
    • 0020084363 scopus 로고
    • Study of children of parents operated on for congenital cardiovascular malformations
    • Czeizel A, Pornoi A, Péterffy E, Tarcal E., Study of children of parents operated on for congenital cardiovascular malformations. Br Heart J 1982 47 290 293
    • (1982) Br Heart J , vol.47 , pp. 290-293
    • Czeizel, A.1    Pornoi, A.2    Péterffy, E.3    Tarcal, E.4
  • 37
    • 0019423315 scopus 로고
    • Risks to the offspring of patients with some common congenital heart defects
    • Dennis NR, Warren J., Risks to the offspring of patients with some common congenital heart defects. J Med Genet 1981 18 8 16
    • (1981) J Med Genet , vol.18 , pp. 8-16
    • Dennis, N.R.1    Warren, J.2
  • 38
    • 0021822411 scopus 로고
    • A possible increase in the incidence of congenital heart defects among the offspring of affected parents
    • Rose V, Gold RJ, Lindsay G, Allen M., A possible increase in the incidence of congenital heart defects among the offspring of affected parents. J Am Coll Cardiol 1985 6 376 382
    • (1985) J Am Coll Cardiol , vol.6 , pp. 376-382
    • Rose, V.1    Gold, R.J.2    Lindsay, G.3    Allen, M.4
  • 39
    • 0027154167 scopus 로고
    • Causes of congenital heart diseases: Old and new modes, mechanisms, and models
    • Nora JJ., Causes of congenital heart diseases: old and new modes, mechanisms, and models. Am Heart J 1993 125 5 Pt 1 1409 1419
    • (1993) Am Heart J , vol.125 , Issue.5 , pp. 1409-1419
    • Nora, J.J.1
  • 40
    • 0028239320 scopus 로고
    • From generational studies to a multilevel genetic-environmental interaction
    • Nora JJ., From generational studies to a multilevel genetic-environmental interaction. J Am Coll Cardiol 1994 23 1468 1471
    • (1994) J Am Coll Cardiol , vol.23 , pp. 1468-1471
    • Nora, J.J.1
  • 41
    • 0022494269 scopus 로고
    • Cloning the gene for an inherited human disorder-chronic granulomatous disease-on the basis of its chromosomal location
    • Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cloning the gene for an inherited human disorder-chronic granulomatous disease-on the basis of its chromosomal location. Nature 1986 322 32 38. doi: 10.1038/322032a0.
    • (1986) Nature , vol.322 , pp. 32-38
    • Royer-Pokora, B.1    Kunkel, L.M.2    Monaco, A.P.3    Goff, S.C.4    Newburger, P.E.5    Baehner, R.L.6
  • 42
    • 0019511103 scopus 로고
    • A deletion in chromosome 22 can cause DiGeorge syndrome
    • de la Chapelle A, Herva R, Koivisto M, Aula P., A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet 1981 57 253 256
    • (1981) Hum Genet , vol.57 , pp. 253-256
    • De La Chapelle, A.1    Herva, R.2    Koivisto, M.3    Aula, P.4
  • 44
    • 0026511084 scopus 로고
    • Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
    • Scambler PJ, Kelly D, Lindsay E, Williamson R, Goldberg R, Shprintzen R, Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet 1992 339 1138 1139
    • (1992) Lancet , vol.339 , pp. 1138-1139
    • Scambler, P.J.1    Kelly, D.2    Lindsay, E.3    Williamson, R.4    Goldberg, R.5    Shprintzen, R.6
  • 47
    • 0027185655 scopus 로고
    • Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome
    • Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 1993 5 11 16. doi: 10.1038/ng0993-11.
    • (1993) Nat Genet , vol.5 , pp. 11-16
    • Ewart, A.K.1    Morris, C.A.2    Atkinson, D.3    Jin, W.4    Sternes, K.5    Spallone, P.6
  • 49
    • 3242808027 scopus 로고    scopus 로고
    • Large-scale copy number polymorphism in the human genome
    • Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Large-scale copy number polymorphism in the human genome. Science 2004 305 525 528. doi: 10.1126/science.1098918.
    • (2004) Science , vol.305 , pp. 525-528
    • Sebat, J.1    Lakshmi, B.2    Troge, J.3    Alexander, J.4    Young, J.5    Lundin, P.6
  • 50
    • 77950461601 scopus 로고    scopus 로고
    • Origins and functional impact of copy number variation in the human genome
    • Wellcome Trust Case Control Consortium
    • Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Wellcome Trust Case Control Consortium Origins and functional impact of copy number variation in the human genome. Nature 2010 464 704 712. doi: 10.1038/nature08516.
    • (2010) Nature , vol.464 , pp. 704-712
    • Conrad, D.F.1    Pinto, D.2    Redon, R.3    Feuk, L.4    Gokcumen, O.5    Zhang, Y.6
  • 51
    • 34249000299 scopus 로고    scopus 로고
    • Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients
    • Thienpont B, Mertens L, de Ravel T, Eyskens B, Boshoff D, Maas N, Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J 2007 28 2778 2784. doi: 10.1093/eurheartj/ehl560.
    • (2007) Eur Heart J , vol.28 , pp. 2778-2784
    • Thienpont, B.1    Mertens, L.2    De Ravel, T.3    Eyskens, B.4    Boshoff, D.5    Maas, N.6
  • 52
    • 84927786478 scopus 로고    scopus 로고
    • Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data
    • Glessner JT, Bick AG, Ito K, Homsy JG, Rodriguez-Murillo L, Fromer M, Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circ Res 2014 115 884 896. doi: 10.1161/CIRCRESAHA.115.304458.
    • (2014) Circ Res , vol.115 , pp. 884-896
    • Glessner, J.T.1    Bick, A.G.2    Ito, K.3    Homsy, J.G.4    Rodriguez-Murillo, L.5    Fromer, M.6
  • 53
    • 84892379085 scopus 로고    scopus 로고
    • Effect of copy number variants on outcomes for infants with single ventricle heart defects
    • Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circ Cardiovasc Genet 2013 6 444 451. doi: 10.1161/CIRCGENETICS.113.000189.
    • (2013) Circ Cardiovasc Genet , vol.6 , pp. 444-451
    • Carey, A.S.1    Liang, L.2    Edwards, J.3    Brandt, T.4    Mei, H.5    Sharp, A.J.6
  • 54
    • 84879001958 scopus 로고    scopus 로고
    • De novo mutations in histone-modifying genes in congenital heart disease
    • Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, De novo mutations in histone-modifying genes in congenital heart disease. Nature 2013 498 220 223. doi: 10.1038/nature12141.
    • (2013) Nature , vol.498 , pp. 220-223
    • Zaidi, S.1    Choi, M.2    Wakimoto, H.3    Ma, L.4    Jiang, J.5    Overton, J.D.6
  • 55
    • 84874230096 scopus 로고    scopus 로고
    • Genetics of congenital heart disease: The glass half empty
    • Fahed AC, Gelb BD, Seidman JG, Seidman CE., Genetics of congenital heart disease: the glass half empty. Circ Res 2013 112 707 720. doi: 10.1161/CIRCRESAHA.112.300853.
    • (2013) Circ Res , vol.112 , pp. 707-720
    • Fahed, A.C.1    Gelb, B.D.2    Seidman, J.G.3    Seidman, C.E.4
  • 56
    • 84875272446 scopus 로고    scopus 로고
    • Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot
    • Cordell HJ, Töpf A, Mamasoula C, Postma AV, Bentham J, Zelenika D, Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Hum Mol Genet 2013 22 1473 1481. doi: 10.1093/hmg/dds552.
    • (2013) Hum Mol Genet , vol.22 , pp. 1473-1481
    • Cordell, H.J.1    Töpf, A.2    Mamasoula, C.3    Postma, A.V.4    Bentham, J.5    Zelenika, D.6
  • 57
    • 84879694320 scopus 로고    scopus 로고
    • A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations
    • Hu Z, Shi Y, Mo X, Xu J, Zhao B, Lin Y, A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. Nat Genet 2013 45 818 821. doi: 10.1038/ng.2636.
    • (2013) Nat Genet , vol.45 , pp. 818-821
    • Hu, Z.1    Shi, Y.2    Mo, X.3    Xu, J.4    Zhao, B.5    Lin, Y.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.