메뉴 건너뛰기




Volumn 164, Issue 6, 2014, Pages 1490-1495

Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: An evaluation of 1,620 families

Author keywords

Congenital heart defects; Conotruncal cardiac defects; Genetic counseling; Recurrence risk

Indexed keywords

ARTICLE; CONGENITAL HEART DISEASE; DISEASE SEVERITY; FALLOT TETRALOGY; FEMALE; FIRST DEGREE RELATIVE; GENETIC COUNSELING; GENETIC RISK; GREAT VESSELS TRANSPOSITION; HUMAN; MAJOR CLINICAL STUDY; MALE; PARENT; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RECURRENCE RISK; SECOND DEGREE RELATIVE; SIBLING; THIRD DEGREE RELATIVE; FAMILY; GENETICS; HEART DEFECTS, CONGENITAL; PEDIGREE; RECURRENT DISEASE; RISK;

EID: 84899976854     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36500     Document Type: Article
Times cited : (38)

References (43)
  • 2
    • 84867390249 scopus 로고    scopus 로고
    • Congenital heart disease: Current knowledge about causes and inheritance
    • Blue GM, Kirk EP, Sholler GF, Harvey RP, Winlaw DS. 2012. Congenital heart disease: Current knowledge about causes and inheritance. Med J Aust 197:155-159.
    • (2012) Med J Aust , vol.197 , pp. 155-159
    • Blue, G.M.1    Kirk, E.P.2    Sholler, G.F.3    Harvey, R.P.4    Winlaw, D.S.5
  • 3
    • 0034190437 scopus 로고    scopus 로고
    • Occurrence of congenital heart defects in relation to maternal mulitivitamin use
    • Botto LD, Mulinare J, Erickson JD. 2000. Occurrence of congenital heart defects in relation to maternal mulitivitamin use. Am J Epidemiol 151:878-884.
    • (2000) Am J Epidemiol , vol.151 , pp. 878-884
    • Botto, L.D.1    Mulinare, J.2    Erickson, J.D.3
  • 4
    • 35348837913 scopus 로고    scopus 로고
    • Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies
    • National Birth Defects Prevention Study.
    • Botto LD, Lin AE, Riehle-Colarusso T, Malik S, Correa A, National Birth Defects Prevention Study. 2007. Seeking causes: Classifying and evaluating congenital heart defects in etiologic studies. Birth Defects Res Part A Clin Mol Teratol 79:714-727.
    • (2007) Birth Defects Res Part A Clin Mol Teratol , vol.79 , pp. 714-727
    • Botto, L.D.1    Lin, A.E.2    Riehle-Colarusso, T.3    Malik, S.4    Correa, A.5
  • 7
    • 33845913514 scopus 로고    scopus 로고
    • Familial recurrence of congenital heart disease: An overview and review of the literature
    • Calcagni G, Digilio MC, Sarkozy A, Dallapiccola B, Marino B. 2007. Familial recurrence of congenital heart disease: An overview and review of the literature. Eur J Pediatr 166:111-116.
    • (2007) Eur J Pediatr , vol.166 , pp. 111-116
    • Calcagni, G.1    Digilio, M.C.2    Sarkozy, A.3    Dallapiccola, B.4    Marino, B.5
  • 8
    • 34248334109 scopus 로고    scopus 로고
    • Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain
    • Chhin B, Hatayama M, Bozon D, Ogawa M, Schön P, Tohmonda T, Sassolas F, Aruga J, Valard A-G, Chen S-C, Bouvagnet P. 2007. Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain. Hum Mutat 28:563-570.
    • (2007) Hum Mutat , vol.28 , pp. 563-570
    • Chhin, B.1    Hatayama, M.2    Bozon, D.3    Ogawa, M.4    Schön, P.5    Tohmonda, T.6    Sassolas, F.7    Aruga, J.8    Valard, A.-G.9    Chen, S.-C.10    Bouvagnet, P.11
  • 9
    • 84875511514 scopus 로고    scopus 로고
    • The phenotypic spectrum of ZIC3 mutations includes isolated D-transposition of the great arteries and double outlet right ventricle
    • D'Alessandro LCA, Latney BC, Paluru PC, Goldmuntz E. 2013. The phenotypic spectrum of ZIC3 mutations includes isolated D-transposition of the great arteries and double outlet right ventricle. Am J Med Genet Part A 161A:792-802.
    • (2013) Am J Med Genet Part A , vol.161 A , pp. 792-802
    • D'Alessandro, L.C.A.1    Latney, B.C.2    Paluru, P.C.3    Goldmuntz, E.4
  • 10
    • 77951655078 scopus 로고    scopus 로고
    • Familial transposition of the great arteries caused by multiple mutations in laterality genes
    • De Luca A, Sarkozy A, Consoli F, Ferese R. 2010. Familial transposition of the great arteries caused by multiple mutations in laterality genes. Heart 96:673.
    • (2010) Heart , vol.96 , pp. 673
    • De Luca, A.1    Sarkozy, A.2    Consoli, F.3    Ferese, R.4
  • 11
    • 0031037933 scopus 로고    scopus 로고
    • Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion
    • Digilio MC, Marino B, Giannotti A, Toscano A, Dallapiccola B. 1997. Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion. J Med Genet 34:188-190.
    • (1997) J Med Genet , vol.34 , pp. 188-190
    • Digilio, M.C.1    Marino, B.2    Giannotti, A.3    Toscano, A.4    Dallapiccola, B.5
  • 13
    • 79952440734 scopus 로고    scopus 로고
    • Congenital heart defects in Europe: Prevalence and perinatal mortality, 2000 to 2005
    • European Surveillance of Congenital Anomalies Working Group.
    • Dolk H, Loane M, Garne E, European Surveillance of Congenital Anomalies Working Group. 2011. Congenital heart defects in Europe: Prevalence and perinatal mortality, 2000 to 2005. Circulation 123:841-849.
    • (2011) Circulation , vol.123 , pp. 841-849
    • Dolk, H.1    Loane, M.2    Garne, E.3
  • 17
    • 0041864052 scopus 로고    scopus 로고
    • Patterns of recurrence of congenital heart disease: An analysis of 6,640 consecutive pregnancies evaluated by detailed fetal echocardiography
    • Gill HK, Splitt M, Sharland GK, Simpson JM. 2003. Patterns of recurrence of congenital heart disease: An analysis of 6, 640 consecutive pregnancies evaluated by detailed fetal echocardiography. J Am Coll Cardiol 42:923-929.
    • (2003) J Am Coll Cardiol , vol.42 , pp. 923-929
    • Gill, H.K.1    Splitt, M.2    Sharland, G.K.3    Simpson, J.M.4
  • 19
    • 0036179821 scopus 로고    scopus 로고
    • CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle
    • Goldmuntz E, Bamford R, Karkera JD, Cruz dela J, Roessler E, Muenke M. 2002. CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet 70:776-780.
    • (2002) Am J Hum Genet , vol.70 , pp. 776-780
    • Goldmuntz, E.1    Bamford, R.2    Karkera, J.D.3    Cruz Dela, J.4    Roessler, E.5    Muenke, M.6
  • 20
    • 0034210142 scopus 로고    scopus 로고
    • Familial aggregation of environmental risk factors and familial aggregation of disease
    • Guo SW. 2000. Familial aggregation of environmental risk factors and familial aggregation of disease. Am J Epidemiol 151:1121-1131.
    • (2000) Am J Epidemiol , vol.151 , pp. 1121-1131
    • Guo, S.W.1
  • 21
    • 79953328073 scopus 로고    scopus 로고
    • A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis
    • Guo C, Sun Y, Zhou B, Adam RM, Li X, Pu WT, Morrow BE, Moon A, Li X. 2011. A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. J Clin Invest 121:1585-1595.
    • (2011) J Clin Invest , vol.121 , pp. 1585-1595
    • Guo, C.1    Sun, Y.2    Zhou, B.3    Adam, R.M.4    Li, X.5    Pu, W.T.6    Morrow, B.E.7    Moon, A.8    Li, X.9
  • 23
    • 34250317669 scopus 로고    scopus 로고
    • Noninherited risk factors and congenital cardiovascular defects: Current knowledge: A scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: Endorsed by the American Academy of Pediatrics
    • American Heart Association Council on Cardiovascular Disease in the Young
    • Jenkins KJ, Correa A, Feinstein JA, Botto L, Britt AE, Daniels SR, Elixson M, Warnes CA, Webb CL, American Heart Association Council on Cardiovascular Disease in the Young. 2007. Noninherited risk factors and congenital cardiovascular defects: Current knowledge: A scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: Endorsed by the American Academy of Pediatrics. Circulation 115:2995-3014.
    • (2007) Circulation , vol.115 , pp. 2995-3014
    • Jenkins, K.J.1    Correa, A.2    Feinstein, J.A.3    Botto, L.4    Britt, A.E.5    Daniels, S.R.6    Elixson, M.7    Warnes, C.A.8    Webb, C.L.9
  • 24
    • 0021952182 scopus 로고
    • Changes in cholinergic parameters associated with failure of conotruncal septation in embryonic chick hearts after neural crest ablation
    • Kirby ML, Aronstam RS, Buccafusco JJ. 1985. Changes in cholinergic parameters associated with failure of conotruncal septation in embryonic chick hearts after neural crest ablation. Circ Res 56:392-401.
    • (1985) Circ Res , vol.56 , pp. 392-401
    • Kirby, M.L.1    Aronstam, R.S.2    Buccafusco, J.J.3
  • 27
    • 0346492855 scopus 로고    scopus 로고
    • Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and D-transposition of the great arteries
    • Loffredo CA, Chokkalingam A, Sill AM, Boughman JA, Clark EB, Scheel J, Brenner JI. 2004. Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and D-transposition of the great arteries. Am J Med Genet Part A 124A:225-230.
    • (2004) Am J Med Genet Part A , vol.124 A , pp. 225-230
    • Loffredo, C.A.1    Chokkalingam, A.2    Sill, A.M.3    Boughman, J.A.4    Clark, E.B.5    Scheel, J.6    Brenner, J.I.7
  • 28
    • 0023806702 scopus 로고
    • Assessing familial aggregation of congenital cardiovascular malformations in case-control studies
    • Maestri NE, Beaty TH, Liang KY, Boughman JA, Ferencz C. 1988. Assessing familial aggregation of congenital cardiovascular malformations in case-control studies. Genet Epidemiol 5:343-354.
    • (1988) Genet Epidemiol , vol.5 , pp. 343-354
    • Maestri, N.E.1    Beaty, T.H.2    Liang, K.Y.3    Boughman, J.A.4    Ferencz, C.5
  • 30
    • 0023104084 scopus 로고
    • Pathogenesis of persistent truncus arteriosus and dextroposed aorta in the chick embryo after neural crest ablation
    • Nishibatake M, Kirby ML, Van Mierop LH. 1987. Pathogenesis of persistent truncus arteriosus and dextroposed aorta in the chick embryo after neural crest ablation. Circulation 75:255-264.
    • (1987) Circulation , vol.75 , pp. 255-264
    • Nishibatake, M.1    Kirby, M.L.2    Van Mierop, L.H.3
  • 31
    • 0014334454 scopus 로고
    • Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic-environmental interaction
    • Nora JJ. 1968. Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic-environmental interaction. Circulation 38:604-617.
    • (1968) Circulation , vol.38 , pp. 604-617
    • Nora, J.J.1
  • 32
    • 0017840201 scopus 로고
    • The evolution of specific genetic and environmental counseling in congenital heart diseases
    • Nora JJ, Nora AH. 1978. The evolution of specific genetic and environmental counseling in congenital heart diseases. Circulation 57:205-213.
    • (1978) Circulation , vol.57 , pp. 205-213
    • Nora, J.J.1    Nora, A.H.2
  • 33
    • 0023848717 scopus 로고
    • Update on counseling the family with a first-degree relative with a congenital heart defect
    • Nora JJ, Nora AH. 1988. Update on counseling the family with a first-degree relative with a congenital heart defect. Am J Med Genet 29:137-142.
    • (1988) Am J Med Genet , vol.29 , pp. 137-142
    • Nora, J.J.1    Nora, A.H.2
  • 34
    • 50049105485 scopus 로고    scopus 로고
    • Double outlet right ventricle: Aetiologies and associations
    • Obler D, Juraszek AL, Smoot LB, Natowicz MR. 2008. Double outlet right ventricle: Aetiologies and associations. J Med Genet 45:481-497.
    • (2008) J Med Genet , vol.45 , pp. 481-497
    • Obler, D.1    Juraszek, A.L.2    Smoot, L.B.3    Natowicz, M.R.4
  • 37
    • 34250305402 scopus 로고    scopus 로고
    • Genetic basis for congenital heart defects: Current knowledge: A scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: Endorsed by the American Academy of Pediatrics
    • American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young.
    • Pierpont ME, Basson CT, Benson DW, Gelb BD, Giglia TM, Goldmuntz E, McGee G, Sable CA, Srivastava D, Webb CL, American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young. 2007. Genetic basis for congenital heart defects: Current knowledge: A scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: Endorsed by the American Academy of Pediatrics. Circulation 115:3015-3038.
    • (2007) Circulation , vol.115 , pp. 3015-3038
    • Pierpont, M.E.1    Basson, C.T.2    Benson, D.W.3    Gelb, B.D.4    Giglia, T.M.5    Goldmuntz, E.6    McGee, G.7    Sable, C.A.8    Srivastava, D.9    Webb, C.L.10
  • 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. 1985. A possible increase in the incidence of congenital heart defects among the offspring of affected parents. J Am Coll Cardiol 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
  • 41
  • 43
    • 0024286922 scopus 로고
    • Maternal transmission of congenital heart disease
    • Whittemore R. 1988. Maternal transmission of congenital heart disease. Am J Cardiol 61:499-500.
    • (1988) Am J Cardiol , vol.61 , pp. 499-500
    • Whittemore, R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.