Recent progress in the molecular genetics of congenital heart defects

Clinical Genetics

Volumn 54, Issue 1, 1998, Pages 11-19

  Belmont, John W ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Congenital heart defects; Genetics

Indexed keywords

CONGENITAL HEART MALFORMATION; DISEASE CLASSIFICATION; EXTRACELLULAR MATRIX; HEART DEVELOPMENT; HUMAN; MOLECULAR GENETICS; NEURAL CREST; NONHUMAN; PRIORITY JOURNAL; REVIEW;

EID: 0031948062     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb03685.x     Document Type: Review

References (91)

1. Burn J, Goodship J. Congenital heart disease. In: Rimoin DL, Connor JM, Pyertiz RE, eds. Principles and Practice of Medical Genetics, 3rd. New York: Churchill-Livingstone, 1997: 767-826.
2. Malik MS, Watkins H. The molecular genetics of hypertrophic cardiomyopathy. Curr Opin Cardiol 1997: 12 (3): 295-302.
3. Wang Q, Chen Q, Li H, Towbin JA. Molecular genetics of long QT syndrome from genes to patients. Curr Opin Cardiol 1997: 12 (3): 310-320.
4. Gillum RF. Epidemiology of congenital heart disease in the United States. Am Heart J 1994: 127: 919-927.
5. Hoffman JIE. Incidence of congenital heart disease: I. Postnatal incidence. Pediatr Cardiol 1995: 16: 103-113.
6. Hoffman JI. Incidence of congenital heart disease: II. Prenatal incidence. Pediatr Cardiol 1995: 16: 155-165.
7. Bruyere HJ Jr., Kargas SA, Levy JM. The causes and underlying developmental mechanisms of congenital cardiovascular malformations: a critical review. Am J Med Genet-Suppl 1987: 3: 411-431.
8. Noonan JA. Association of congenital heart defects with syndromes or other defects. Pediatr Clin North Am 1978: 25 (4): 797-816.
9. Storch TG, Mannick EE. Epidemiology of congenital heart disease in Louisiana: an association between race and sex and the prevalence of specific cardiac malformations. Teratology 1992: 46: 271-276.
10. Nora JJ, Nora AH. Genetic epidemiology of congenital heart diseases. Prog Med Genet 1983: 5: 91-137.
11. Nora JJ. Causes of congenital heart diseases: old and new modes, mechanisms, and models. Am Heart J 1993: 125: 1409-1419.
12. Samanek M. Boy:girl ratio in children born with different forms of cardiac malformation: a population-based study. Pediatr Cardiol 1994: 15: 53-57.
13. Whittemore R, Wells JA, Castellsague X. A second-generation study of 427 probands with congenital heart defects and their 837 children. J Am College Cardiol 1994: 23: 1459-1467.
14. Clark EB. In: Emmanouillides GC, Reimenschneider TA, Allen HD, Gutgesell HP, eds. Growth, morphogenesis, and biomechanics: Mechanisms of cardiovascular development in heart disease in infants, children, and adolescents. 5th edn. Baltimore: Williams and Wilkins, 1995: 1-16.
15. Wenink ACG. Embryology of the heart. In: Anderson RH, Shinebourne EA, Macartney FJ, Tynan M, eds. Pediatric cardiology. Edinburgh: Churchill Livingstone, 1987: 83-108.
16. Olson EN, Srivastava D. Molecular pathways controlling heart development. Science 1996: 272 (5262): 671-676.
17. Fishman MC, Chien KR. Fashioning the vertebrate heart: earliest embryonic decisions. Development 1997: 124 (11): 2099-2117.
18. Levin M, Pagan S, Roberts DJ, Cooke J, Kuehn MR, Tabin CJ. Left right patterning signals and the independent regulation of different aspects of situs in the chick embryo. Dev Biol 1997: 189 (1): 57-67.
19. Levin M, Mercola M. The compulsion of chirality: toward an understanding of left-right asymmetry. Genes Dev 1998 Mar 15: 12(6): 763-769.
20. Levin M, Johnson RL, Stern CD, Kuehn M, Tabin C. A molecular pathway determining left-right asymmetry in chick embryogenesis. Cell 1995: 82 (5): 803-814.
21. Lowe LA, Supp DM, Sampath K, Yokoyama T, Wright CV, Potter SS, Overbeek P, Kuehn MR. Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus. Nature 1996: 381 (6578): 158-161.
22. Levin M, Roberts DJ, Holmes LB, Tabin C. Laterality defects in conjoined twins. Nature 1996: 384 (6607): 321.
23. Supp DM, Witte DP, Potter SS, Brueckner M. Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice. Nature 1997: 389 (6654): 963-966.
24. Meno C, Saijoh Y, Fujii H, Ikeda M, Yokoyama T, Yokoyama M, Toyoda Y, Hamada H. Left-right asymmetric expression of the TGF beta-family member lefty in mouse embryos Nature 1996: 381 (6578): 151-155.
25. Meno C, Ito Y, Saijoh Y, Matsuda Y, Tashiro K, Kuhara S, Hamada H. Two closely-related left-right asymmetrically expressed genes, lefty-1 and lefty-2: their distinct expression domains, chromosomal linkage and direct neuralizing activity in Xenopus embryos. Genes Cells 1997: 2 (8): 513-524.
26. Lyons I, Parsons LM, Hartley L, Li R, Andrews JE, Robb L, Harvey RP. Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5. Genes Dev 1995: 9 (13): 1654-1666.
27. Riley P, Anson-Cartwright L, Cross JC. The Handl bHLH transcription factor is essential for placentation and cardiac morphogenesis Nat Genet 1998: 18 (3): 271-275.
28. Casey B, Devoto M, Jones KL, Ballabio A. Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nat Genet 1993: 5 (4): 403-407.
29. Ferrero GB, Gebbia M, Pilia G, Witte D, Peier A, Hopkin RJ, Craigen WJ, Shaffer LG, Schlessinger D, Ballabio A, Casey B. A submicroscopic deletion in Xq26 associated with familial situs ambiguus. Am J Hum Genet 1997: 61 (2): 395-401.
30. Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B. X-linked situs abnormalities result from mutations in ZIC3 Nat Genet 1997: 17 (3): 305-308.
31. Bassi MT, Kosaki K, Belmont J, Casey B. NODAL, LEFTY, and HNF-3β nucleotide changes associated with complex heart defects and other features of left-right axis malformations. Am J Hum Genet 1997: 61 (4): 4.
32. 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. New Engl J Med 1995: 332 (20): 1323-1329.
33. Gebbia M, Towbin JA, Casey B. Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. Circulation 1996: 8: 1909-1912.
34. Debrus S, Tuffery S, Matsuoka R, Galal O, Sarda P, Sauer U, Bozio A, Tanman B, Toutain A, Claustres M, Le Paslier D, Bouvagnet P. Lack of evidence for connexin 43 gene mutations in human autosomal recessive lateralization defects. J Mol Cell Cardiol 1997: 29 (5): 1423-1431.
35. Ya J, Erdtsieck-Ernste EB, de Boer PA, van Kempen MJ, Jongsma H, Gros D, Moorman AF, Lamers WH. Heart defects in connexin43-deficient mice. Circ Res 1998: 82 (3): 360-366.
36. Chisaka O, Capecchi MR. Regionally restricted developmental defects resulting from targeted disruption of the mouse homeobox gene hox-1. 5 Nature 1991: 350 (6318): 473-479.
37. Epstein DJ, Vekemans M, Gros P. Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 1991: 67 (4): 767-774.
38. Schilham MW, Oosterwegel MA, Moerer P, Ya J, de Boer PA, van de Wetering M, Verbeek S, Lamers WH, Kruisbeek AM, Cumano A, Clevers H. Defects in cardiac outflow tract formation and pro-B-lymphocyte expansion in mice lacking Sox-4. Nature 1996: 380 (6576): 711-714.
39. Kastner P, Grondona JM, Mark M, Gansmuller A, LeMeur M, Decimo D, Vonesch JL, Dolle P, Chambon P. Genetic analysis of RXR alpha developmental function: convergence of RXR and RAR signaling pathways in heart and eye morphogenesis. Cell 1994: 78 (6): 987-1003.
40. Brannan CI, Perkins AS, Vogel KS, Ratner N, Nordlund ML, Reid SW, Buchberg AM, Jenkins NA, Parada LF, Copeland NG. Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues Genes Dev 1994: 8 (9): 1019-1029.
41. Freidman JM, Birch PH et al. Cardiovasuclar malforamtions in Neurofibromatosis 1 (NF1). Am J Hum Genet 1997: 61: 98.
42. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Scambler PJ et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997: 34(10): 798-804.
43. Webber SA, Hatchwell E, Barber JC, Daubeney PE, Crolla JA, Salmon AP, Keeton BR, Temple IK, Dennis NR. Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study J Pediatr 1996: 129 (1): 26-32.
44. Lewin MB, Lindsay EA, Jurecic V, Goytia V, Towbin JA, Baldini A. A genetic etiology for interruption of the aortic arch type B. Am J Cardiol 1997: 80 (4): 493-497.
45. Gottlieb S, Driscoll DA, Punnett HH, Sellinger B, Emanuel BS, Budarf ML. Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. Am J Hum Genet 1998: 62: 495-498.
46. Korenberg JR, Chen XN, Schipper R, Sun Z, Gonsky R, Gerwehr S, Carpenter N, Daumer C, Dignan P, Disteche C et al. Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci USA 1994: 91 (11): 4997-5001.
47. Delabar JM, Theophile D, Rahmani Z, Chettouh Z, Blouin JL, Prieur M, Noel B, Sinet PM. Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur J Hum Genet 1993: 1: 114-124.
48. Webb S, Anderson RH, Brown NA. Endocardial cushion development and heart loop architecture in the trisomy 16 mouse. Dev Dynamics 1996: 206 (3): 301-309.
49. Johnson MC, Hing A, Wood MK, Watson MS. Chromosome abnormalities in congenital heart disease. Genetics 1997: 70 (3): 292-298.
50. Sheffield VC, Pierpont ME, Nishimura D, Beck JS, Burns TL, Berg MA, Stone EM, Patil SR, Lauer RM. Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis. Hum Mol Genet 1997: 6 (1): 117-121.
51. Amati F, Mari A, Mingarelli R, Gennarelli M, Digilio MC, Giannotti A, Marino B, Novelli G, Dallapiccola B. Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region on 8p. Am J Med Genet 1995: 57 (3): 483-488.
52. Cousineau AJ, Lauer RM, Pierpont ME, Burns TL, Ardinger RH, Patil SR, Sheffield VC. Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21. Hum Genet 1994: 93: 103-108.
53. Schinzel A, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, Zetterqvist P, Enell H, Baccichetti C, Tenconi R, Pagon R. The 'cat eye syndrome': decentric small marker chromosome probably derived from a 22 (tetrasomy 22pter;q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. Hum Genet 1981: 57: 148-158.
54. Bleyl S, Nelson L, Odelberg SJ, Ruttenberg HD, Otterud B, Leppert M, Ward K. A gene for familial total anomalous pulmonary venous return maps to chromosome 4p13-q12. Am J Hum Genet 1995: 56 (2): 408-415.
55. Meyer D, Birchmeier C. Multiple essential functions of neuregulin in development. Nature 1995: 378 (6555): 386-390.
56. Lee KF, Simon H, Chen H, Bates B, Hung MC, Hauser C. Requirement for neuregulin receptor erbB2 in neural and cardiac development. Nature 1995: 378 (6555): 394-398.
57. Gassmann M, Casagranda F, Orioli D, Simon H, Lai C, Klein R, Lemke G. Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor. Nature 1995: 378 (6555): 390-394.
58. Moens CB, Stanton BR, Parada LF, Rossant J. Defects in heart and lung development in compound heterozygotes for two different targeted mutations al the N-myc locus. Development 1993: 119 (2): 485-499.
59. Chen Z, Friedrich GA, Soriano P. Transcriptional enhancer factor 1 disruption by a retroviral gene trap leads to heart defects and embryonic lethality in mice. Genes Dev 1994: 8 (19): 2293-2301.
60. Kreidberg JA, Sariola H, Loring JM, Maeda M, Pelletier J, Housman D, Jaenisch R. WT-1 is required for early kidney development. Cell 1993: 74 (4): 679-691.
61. Nagasawa T, Hirota S, Tachibana K, Takakura N, Nishikawa S, Kitamura Y, Yoshida N, Kikutani H, Kishimoto T. Detects of B-cell lymphopoiesis and bone-marrow myelopoiesis in mice lacking the CXC chemokine PBSF/ SDF-1. Nature 1996: 382 (6592): 635-638.
62. Donovan MJ, Hahn R, Tessarollo L, Hempstead BL. Identification of an essential nonneuronal function of neurotrophin 3 in mammalian cardiac development. Nat Genet 1996: 14 (2): 210-213.
63. Sletten LJ, Pierpont MEM. Variation in severity of cardiac-disease in Holt-Oram syndrome. Am J Med Genet 1996: 65: 128-132.
64. Fryns JP, Bonnet D, De Smet L. Holt-Oram syndrome with associated postaxial and central polysyndactyly: further evidence for genetic heterogeneity in the Holt-Oram syndrome. Genet Counsel 1996: 7: 323-324.
65. Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis ARJ, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn JA, Buckler AJ, Law DJ, Brook JD. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet 1997: 15: 21-29.
66. Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Souks J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE. Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 1997: 15: 30-35.
67. Li Volti S, Distefano G, Garozzo R, Romeo MG, Sciacca P, Mollica F. Autosomal dominant atrial septal defect of ostium secundum type: report of three families. Ann Genet 1991: 34: 14-18.
68. Wilkie AOM, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, Malcolm S, Winter RM, Reardon W. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995: 9: 165-172.
69. Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, Poole MD, Wilkie AOM. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet 1995: 9: 173-176.
70. Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RCM, Masuno M, Tommerup N, van Ommen GJB, Goodman RH, Peters DJM, Breuning MH. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 1995: 376: 348-351.
71. Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz De Luna RI, Delgado CG, Gonzalez-Ramos M, Kline AD, Jabs EW. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 1997: 15: 36-41.
72. Ferencz C, Loffredo CA, Corea-Villasenor A, Wilson PD. Left-sided obstructive lesions. In Genetic and Environmental Risk factors for major Cardiovasuclar Malformations: The Baltimore-Washington Infant Study 1981-1989. Baltimore: Futura Publishing 1997: 1997: 165-225.
73. Gray GW, Salisbury DA, Gulino AM. Echocardiographic and color flow Doppler findings in military pilot applicants. Aviation Space Environ Med 1995: 66 (1): 32-34.
74. Natowicz M, Kelley RI. Association of Turner syndrome with hypoplastic left-heart syndrome. Am J Diseases Children 1987: 141 (2): 218-220.
75. Chu CE, Donaldson MD, Kelnar CJ, Smail PJ, Greene SA, Paterson WF, Connor JM. Possible role of imprinting in the Turner phenotype. J Med Genet 1994: 31 (11): 840-842.
76. Penny, LA, Dell'Aquila, M, Jones, MC, Bergoffen, J, Cunniff, C, Fryns, J-P, Grace, E, Graham JM Jr., Kousseff, B. Mattina, T. Syme, J. Voullaire, L. Zelante, L. Zenger-Hain, J. Jones, OW, Evans, GA. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 1995: 56: 676-683.
77. Clementi M, Notari L, Borghi A, Tenconi R. Familial congenital bicuspid aortic valve: a disorder of uncertain inheritance. Am J Med Genet 1996: 62: 336-338.
78. Hallidie-Smith KA, Karas S. Cardiac anomalies in Williams Beuren syndrome. Arch Dis Child 1988: 63: 809-813.
79. Perez Jurado LA, Peoples R, Kaplan P, Hamel BCJ, Francke U. Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am J Hum Genet 1996: 59: 781-792.
80. Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating M. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 1993: 73: 159-168.
81. Krantz ID, Piccoli DA, Spinner NB. Alagille syndrome. J Med Genet 1997: 34: 152-157.
82. Legius E, Fryns J-P, Eyskens B, Eggermont E, Desmet V, de Bethune G, Van den Berghe H. Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2). Am J Med Genet 1990: 35: 532-535.
83. Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 1997: 3: 243-251.
84. Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS. Chandrasckharappa SC. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 1997: 16 (3): 235-242.
85. Lindsell CE, Shawber CJ, Boulter J, Weinmaster G. Jagged: a mammalian ligand that activates Notch1. Cell 1995: 80: 909-917.
86. Allanson JE. Noonan syndrome. J Med Genet 1987: 24: 9-13.
87. Schwartz ML, Cox GF, Lin AE, Korson MS, Perez-Atayde A, Lacro RV, Lipshultz SE. Clinical approach to genetic cardiomyopathy in children. Circulation. 1996: 94 (8): 2021-2038.
88. Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, Jeffery S, Patton MA, Mariman E. Mappine a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet 1994: 8: 357-360.
89. Kyndt F, Schott J-J, Trochu J-N, Baranger F, Herbert O, Scott V, Fressinaud E, David A, Moisan J-P, Bouhour J-B, Le Marec H, Benichou B. Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. Am J Hum Genet 1998: 62: 627-632.
90. Matsuoka R, Misugi K, Goto A, Gilbert EF, Ando M. Congenital heart anomalies in the trisomy 18 syndrome, with reference to congenital polyvalvular disease. Am J Med Genet 1983: 14 (4): 657-668.
91. Lin AE, Ardinger HH, Ardinger RH Jr., Cunniff C, Kelley RI. Cardiovascular malformations in Smith-Lemli-Opitz syndrome. Am J Med Genet 1997: 68 (3): 270-278.