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  • Print publication year: 2012
  • Online publication date: February 2013

Chapter 9.2 - Structural heart disease

from Section 2 - Fetal disease

Summary

Congenital heart disease (CHD) is one of the commonest human birth defects, with a widely reported birth incidence of just less than 1%, and it accounts for one-third of infant deaths that result from congenital malformation. Epidemiological studies have long suggested that genetic factors may have a contribution to cardiac maldevelopment in humans. Mapping genes by linkage seeks to identify which DNA sequences have been inherited in common by affected individuals in families with multiple members suffering from the genetic disease. Many disease genes have also been identified by studying individuals with a chromosomal rearrangement, such as a translocation, where a piece of chromosomal material breaks of and rejoins to another chromosome. The first draft of human genome sequence was published in 2001 and in 2003 the International Human Genome Sequencing Consortium announced a finished version which detailed the entire DNA sequence of each chromosome.

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References
Pradat, P, Francannet, C, Harris, JA, Robert, E. The epidemiology of cardiovascular defects, part I: a study based on data from three large registries of congenital malformations. Pediatr Cardiol 2003;24(3):195–221.
Ransom, J, Srivastava, D. The genetics of cardiac birth defects. Semin Cell Dev Biol 2007;18(1):132–9.
Howitt, G. Atrial septal defect in three generations. Br Heart J 1961;23:494–6.
Hoffman, JI, Kaplan, S. The incidence of congenital heart disease. J Am Coll Cardiol 2002;39(12):1890–900.
Huang, JB, Liu, YL, Sun, PW, et al. Molecular mechanisms of congenital heart disease. Cardiovasc Pathol 2010;19(5):e183–93.
Gilboa, SM, Correa, A, Botto, LD, et al. Association between prepregnancy body mass index and congenital heart defects. Am J Obstet Gynecol 2010;202(1):51e1–10.
Botto, LD, Lynberg, MC, Erickson, JD. Congenital heart defects, maternal febrile illness, and multivitamin use: a population-based study. Epidemiology 2001;12(5):485–90.
Jenkins, KJ, Correa, A, Feinstein, JA, et al. 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 2007;115(23):2995–3014.
Zhu, H, Kartiko, S, Finnell, RH. Importance of gene-environment interactions in the etiology of selected birth defects. Clin Genet 2009;75(5):409–23.
Nora, JJ. Multifactorial inheritance hypothesis for the etiology of congenital heart diseases. The genetic-environmental interaction. Circulation 1968;38(3):604–17.
Schott, JJ, Benson, DW, Basson, CT, et al. Congenital heart disease caused by mutations in the transcription factor NKX2–5. Science 1998;281(5373):108–11.
Gebbia, M, Ferrero, GB, Pilia, G, et al. X-linked situs abnormalities result from mutations in ZIC3. Nat Genet 1997;17(3):305–8.
Gong, W, Gottlieb, S, Collins, J, et al. Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J Med Genet 2001;38(12):E45.
Garg, V, Kathiriya, IS, Barnes, R, et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 2003;424(6947):443–7.
Pizzuti, A, Sarkozy, A, Newton, AL, et al. Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. Hum Mutat 2003;22(5):372–7.
Sperling, S, Grimm, CH, Dunkel, I, et al. Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. Hum Mutat 2005;26(6):575–82.
Reamon-Buettner, SM, Ciribilli, Y, Inga, A, Borlak, J. A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts. Hum Mol Genet 2008;17(10):1397–405.
Wang, B, Yan, J, Peng, Z, et al. Teratocarcinoma-derived growth factor 1 (TDGF1) sequence variants in patients with congenital heart defect. Int J Cardiol 2011;146(2):225–7.
Kosaki, R, Gebbia, M, Kosaki, K, et al. Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. Am J Med Genet 1999;82(1):70–6.
Kosaki, K, Bassi, MT, Kosaki, R, et al. Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development. Am J Hum Genet 1999;64(3):712–21.
Bamford, RN, Roessler, E, Burdine, RD, et al. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet 2000;26(3):365–9.
Garg, V, Muth, AN, Ransom, JF, et al. Mutations in NOTCH1 cause aortic valve disease. Nature 2005;437(7056):270–4.
Robinson, SW, Morris, CD, Goldmuntz, E, et al. Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet 2003;72(4):1047–52.
Karkera, JD, Lee, JS, Roessler, E, et al. Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet 2007;81(5):987–94.
Mohapatra, B, Casey, B, Li, H, et al. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet 2009;18(5):861–71.
Britz-Cunningham, SH, Shah, MM, Zuppan, CW, Fletcher, WH. Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med 1995;332(20):1323–9.
Li, DY, Toland, AE, Boak, BB, et al. Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. Hum Mol Genet 1997;6(7):1021–8.
Muncke, N, Jung, C, Rudiger, H, et al. Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). Circulation 2003;108(23):2843–50.
Thienpont, B, Zhang, L, Postma, AV, et al. Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet 2010;86(6):839–49.
Burn, J, Brennan, P, Little, J, et al. Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet 1998;351(9099):311–16.
Grobman, W, Pergament, E. Isolated hypoplastic left heart syndrome in three siblings. Obstet Gynecol 1996;88(4 Pt 2):673–5.
Pease, WE, Nordenberg, A, Ladda, RL. Familial atrial septal defect with prolonged atrioventricular conduction. Circulation 1976;53(5):759–62.
Ferencz, C, Boughman, JA, Neill, CA, Brenner, JI, Perry, LW. Congenital cardiovascular malformations: questions on inheritance. Baltimore-Washington Infant Study Group. J Am Coll Cardiol 1989;14(3):756–63.
Corone, P, Bonaiti, C, Feingold, J, Fromont, S, Berthet-Bondet, D. Familial congenital heart disease: how are the various types related? Am J Cardiol 1983;51(6):942–5.
Wessels, MW, Berger, RM, Frohn-Mulder, IM, et al. Autosomal dominant inheritance of left ventricular outflow tract obstruction. Am J Med Genet A 2005;134A(2):171–9.
Musewe, NN, Alexander, DJ, Teshima, I, Smallhorn, JF, Freedom, RM. Echocardiographic evaluation of the spectrum of cardiac anomalies associated with Trisomy 13 and Trisomy 18. J Am Coll Cardiol 1990;15(3):673–7.
van Egmond, H, Orye, E, Praet, M, Coppens, M, Devloo-Blancquaert, A. Hypoplastic left heart syndrome and 45X karyotype. Br Heart J 1988;60(1):69–71.
van Bon, BW, Mefford, HC, Menten, B, et al. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet 2009;46(8):511–23.
Tartaglia, M, Mehler, EL, Goldberg, R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001;29(4):465–8.
Zhao, Y, Ransom, JF, Li, A, et al. Dysregulation of cardiogenesis, cardiac conduction, and cell cycle in mice lacking miRNA-1–2. Cell 2007;129(2):303–17.
Hearn, T, Renforth, GL, Spalluto, C, et al. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet 2002;31(1):79–83.
Oda, T, Elkahloun, AG, Pike, BL, et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 1997;16(3):235–4.
Newbury-Ecob, RA, Leanage, R, Raeburn, JA, Young, ID. Holt-Oram syndrome: a clinical genetic study. J Med Genet 1996;33(4):300–7.
Brassington, AM, Sung, SS, Toydemir, RM, et al. Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. Am J Hum Genet 2003;73(1):74–85.
McElhinney, DB, Geiger, E, Blinder, J, Benson, DW, Goldmuntz, E. NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol 2003;42(9):1650–5.
Carey, AH, Kelly, D, Halford, S, et al. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet 1992;51(5):964–70.
Mefford, HC, Sharp, AJ, Baker, C, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 2008;359(16):1685–99.
Hillman, K, DeVita, M, Bellomo, R, Chen, J. Meta-analysis for rapid response teams. Arch Intern Med 2010;170(11):996–7; author reply 997.
D’Amours, G, Kibar, Z, Mathonnet, G, et al. Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype. Clin Genet 2011;81(2):128–41.
Lander, ES, Linton, LM, Birren, B, et al. Initial sequencing and analysis of the human genome. Nature 2001; 409(6822):860–921.
Levy, S, Sutton, G, Ng, PC, et al. The diploid genome sequence of an individual human. PLoS Biol 2007;5(10):e254.
Snyder, M, Du, J, Gerstein, M. Personal genome sequencing: current approaches and challenges. Genes Dev 2010;24(5):423–31.