Genetic factors in congenital heart malformation

Clinical Genetics

Volumn 73, Issue 6, 2008, Pages 516-527

  Andelfinger, Gregor ^a  

^a UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

Animal models of disease; Congenital heart disease; Genetics; Genotype; Linkage analysis; Phenotype correlation; Ppediatric cardiology

Indexed keywords

CHROMOSOME ABERRATION; CONGENITAL HEART MALFORMATION; DISEASE MODEL; EPIGENETICS; GENE EXPRESSION; GENETIC ANALYSIS; GENOME; GROWTH; HEART DEVELOPMENT; HEART MUSCLE CELL; HEMODYNAMICS; HEREDITY; HUMAN; MORPHOGENESIS; NEOPLASM; NONHUMAN; ONSET AGE; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION; SOMATIC MUTATION;

ANIMALS; CHROMOSOME ABERRATIONS; HEART; HEART DEFECTS, CONGENITAL; HUMANS; MORPHOGENESIS; MUTATION;

ANIMALIA;

EID: 43449131242     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01009.x     Document Type: Review

References (107)

1. Statistics Canada. Deaths, by cause -chapter XVII: Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99). 2005. Statistics Canada, Ottawa, Canada. www.statcan.ca.
2. Ferencz C, Loffredo CA, Correa-Villasenor A, Wilson PD. Genetic and environmental risk factors of major cardiovascular malformations: The Baltimore-Washington Infant Study: 1981-1989. Armonk, NY: Future Publishing Co, 1997.
3. Pierpont ME, Basson CT, Benson DW Jr et al. Genetic basis for congenital heart defectsA 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 2007: 115 (23): 3015-3038.
4. Garcia-Martinez V, Schoenwolf GC. Primitive-streak origin of the cardiovascular system in avian embryos. Dev Biol 1993: 159 (2): 706-719.
5. de la Cruz MV, Sanchez GC, Arteaga MM, Arguello C. Experimental study of the development of the truncus and the conus in the chick embryo. J Anat 1977: 123 (Pt 3): 661-686.
6. Stalsberg H, DeHaan RL. The precardiac areas and formation of the tubular heart in the chick embryo. Dev Biol 1969: 19 (2): 128-159.
7. Arguello C, de la Cruz MV, Gomez CS. Experimental study of the formation of the heart tube in the chick embryo. J Embryol Exp Morphol 1975: 33 (1): 1-11.
8. Waldo KL, Kumiski DH, Wallis KT et al. Conotruncal myocardium arises from a secondary heart field. Development 2001: 128 (16): 3179-3188.
9. Verzi MP, McCulley DJ, De VS et al. The right ventricle, outflow tract, and ventricular septum comprise a restricted expression domain within the secondary/anterior heart field. Dev Biol 2005: 287 (1): 134-145.
10. Kelly RG, Brown NA, Buckingham ME. The arterial pole of the mouse heart forms from Fgf10-expressing cells in pharyngeal mesoderm. Dev Cell 2001: 1 (3): 435-440.
11. Cai CL, Liang X, Shi Y et al. Isl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heart. Dev Cell 2003: 5 (6): 877-889.
12. Mjaatvedt CH, Nakaoka T, Moreno-Rodriguez R et al. The outflow tract of the heart is recruited from a novel heart-forming field. Dev Biol 2001: 238 (1): 97-109.
13. Meilhac SM, Esner M, Kelly RG et al. The clonal origin of myocardial cells in different regions of the embryonic mouse heart. Dev Cell 2004: 6 (5): 685-698.
14. Zaffran S, Kelly RG, Meilhac SM et al. Right ventricular myocardium derives from the anterior heart field. Circ Res 2004: 95 (3): 261-268.
15. Meilhac SM, Kelly RG, Rocancourt D et al. A retrospective clonal analysis of the myocardium reveals two phases of clonal growth in the developing mouse heart. Development 2003: 130 (16): 3877-3889.
16. Christoffels VM, Mommersteeg MT, Trowe MO et al. Formation of the venous pole of the heart from an Nkx2-5-negative precursor population requires Tbx18. Circ Res 2006: 98 (12): 1555-1563.
17. Kattman SJ, Huber TL, Keller GM. Multipotent flk-1+ cardiovascular progenitor cells give rise to the cardiomyocyte, endothelial, and vascular smooth muscle lineages. Dev Cell 2006: 11 (5): 723-732.
18. Wu SM, Fujiwara Y, Cibulsky SM et al. Developmental origin of a bipotential myocardial and smooth muscle cell precursor in the mammalian heart. Cell 2006: 127 (6): 1137-1150.
19. Laugwitz KL, Moretti A, Lam J et al. Postnatal isl1+ cardioblasts enter fully differentiated cardiomyocyte lineages. Nature 2005: 433 (7026): 647-653.
20. Davis CL. Development of the human heart from its first appearance to the stage found in embryos of twenty paired somites. Contrib Embryol 1927: 19: 245-284.
21. Christoffels VM, Habets PE, Franco D et al. Chamber formation and morphogenesis in the developing mammalian heart. Dev Biol 2000: 223 (2): 266-278.
22. Soufan AT, van den BG, Ruijter JM et al. Regionalized sequence of myocardial cell growth and proliferation characterizes early chamber formation. Circ Res 2006: 99 (5): 545-552.
23. McDermott DA, Bressan MC, He J et al. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome. Pediatr Res 2005: 58 (5): 981-986.
24. Bruneau BG, Nemer G, Schmitt JP et al. A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell 2001: 106 (6): 709-721.
25. Christoffels VM, Hoogaars WM, Tessari A et al. T-box transcription factor Tbx2 represses differentiation and formation of the cardiac chambers. Dev Dyn 2004: 229 (4): 763-770.
26. Habets PE, Moorman AF, Clout DE et al. Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation. Genes Dev 2002: 16 (10): 1234-1246.
27. Hoogaars WM, Tessari A, Moorman AF et al. The transcriptional repressor Tbx3 delineates the developing central conduction system of the heart. Cardiovasc Res 2004: 62 (3): 489-499.
28. Cai CL, Zhou W, Yang L et al. T-box genes coordinate regional rates of proliferation and regional specification during cardiogenesis. Development 2005: 132 (10): 2475-2487.
29. Hoogaars WM, Engel A, Brons JF et al. Tbx3 controls the sinoatrial node gene program and imposes pacemaker function on the atria. Genes Dev 2007: 21 (9): 1098-1112.
30. Brown DD, Martz SN, Binder O et al. Tbx5 and Tbx20 act synergistically to control vertebrate heart morphogenesis. Development 2005: 132 (3): 553-563.
31. Kraus F, Haenig B, Kispert A. Cloning and expression analysis of the mouse T-box gene tbx20. Mech Dev 2001: 100 (1): 87-91.
32. Stennard FA, Costa MW, Elliott DA et al. Cardiac T-box factor Tbx20 directly interacts with Nkx2-5, GATA4, and GATA5 in regulation of gene expression in the developing heart. Dev Biol 2003: 262 (2): 206-224.
33. Takeuchi JK, Mileikovskaia M, Koshiba-Takeuchi K et al. Tbx20 dose-dependently regulates transcription factor networks required for mouse heart and motoneuron development. Development 2005: 132 (10): 2463-2474.
34. Singh MK, Christoffels VM, Dias JM et al. Tbx20 is essential for cardiac chamber differentiation and repression of Tbx2. Development 2005: 132 (12): 2697-2707.
35. Shelton EL, Yutzey KE. Tbx20 regulation of endocardial cushion cell proliferation and extracellular matrix gene expression. Dev Biol 2007: 302 (2): 376-388.
36. Molkentin JD, Lin Q, Duncan SA, Olson EN. Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Genes Dev 1997: 11 (8): 1061-1072.
37. Pu WT, Ishiwata T, Juraszek AL et al. GATA4 is a dosage-sensitive regulator of cardiac morphogenesis. Dev Biol 2004: 275 (1): 235-244.
38. Zeisberg EM, Ma Q, Juraszek AL et al. Morphogenesis of the right ventricle requires myocardial expression of Gata4. J Clin Invest 2005: 115 (6): 1522-1531.
39. 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): 443-447.
40. Marvin MJ, Di RG, Gardiner A et al. Inhibition of Wnt activity induces heart formation from posterior mesoderm. Genes Dev 2001: 15 (3): 316-327.
41. Foley AC, Mercola M. Heart induction by Wnt antagonists depends on the homeodomain transcription factor Hex. Genes Dev 2005: 19 (3): 387-396.
42. Brott BK, Sokol SY. A vertebrate homolog of the cell cycle regulator Dbf4 is an inhibitor of Wnt signaling required for heart development. Dev Cell 2005: 8 (5): 703-715.
43. Kioussi C, Briata P, Baek SH et al. Identification of a Wnt/Dvl/ beta-Catenin -> Pitx2 pathway mediating cell-type-specific proliferation during development. Cell 2002: 111 (5): 673-685.
44. Lickert H, Kutsch S, Kanzler B et al. Formation of multiple hearts in mice following deletion of beta-catenin in the embryonic endoderm. Dev Cell 2002: 3 (2): 171-181.
45. Pandur P, Lasche M, Eisenberg LM, Kuhl M. Wnt-11 activation of a non-canonical Wnt signalling pathway is required for cardiogenesis. Nature 2002: 418 (6898): 636-641.
46. Park M, Wu X, Golden K et al. The wingless signaling pathway is directly involved in Drosophila heart development. Dev Biol 1996: 177 (1): 104-116.
47. Tzahor E, Lassar AB. Wnt signals from the neural tube block ectopic cardiogenesis. Genes Dev 2001: 15 (3): 255-260.
48. Naito AT, Shiojima I, Akazawa H et al. Developmental stage-specific biphasic roles of Wnt/beta-catenin signaling in cardiomyogenesis and hematopoiesis. Proc Natl Acad Sci U S A 2006: 103 (52): 19812-19817.
49. Klaus A, Saga Y, Taketo MM et al. Distinct roles of Wnt/beta-catenin and Bmp signaling during early cardiogenesis. Proc Natl Acad Sci U S A 2007: 104 (47): 18531-18536.
50. Ueno S, Weidinger G, Osugi T et al. Biphasic role for Wnt/beta-catenin signaling in cardiac specification in zebrafish and embryonic stem cells. Proc Natl Acad Sci U S A 2007: 104 (23): 9685-9690.
51. Cohen ED, Wang Z, Lepore JJ et al. Wnt/beta-catenin signaling promotes expansion of Isl-1-positive cardiac progenitor cells through regulation of FGF signaling. J Clin Invest 2007: 117 (7): 1794-1804.
52. Foley AC, Korol O, Timmer AM, Mercola M. Multiple functions of Cerberus cooperate to induce heart downstream of Nodal. Dev Biol 2007: 303 (1): 57-65.
53. Liu Y, Asakura M, Inoue H et al. Sox17 is essential for the specification of cardiac mesoderm in embryonic stem cells. Proc Natl Acad Sci U S A 2007: 104 (10): 3859-3864.
54. Fraidenraich D, Stillwell E, Romero E et al. Rescue of cardiac defects in id knockout embryos by injection of embryonic stem cells. Science 2004: 306 (5694): 247-252.
55. Phillips HM, Murdoch JN, Chaudhry B et al. Vangl2 acts via RhoA signaling to regulate polarized cell movements during development of the proximal outflow tract. Circ Res 2005: 96 (3): 292-299.
56. Phillips HM, Rhee HJ, Murdoch JN et al. Disruption of planar cell polarity signaling results in congenital heart defects and cardiomyopathy attributable to early cardiomyocyte disorganization. Circ Res 2007: 101 (2): 137-145.
57. Torban E, Patenaude AM, Leclerc S et al. Genetic interaction between members of the Vangl family causes neural tube defects in mice. Proc Natl Acad Sci U S A 2008: 105 (9): 3449-3454.
58. Qian D, Jones C, Rzadzinska A et al. Wnt5a functions in planar cell polarity regulation in mice. Dev Biol 2007: 306 (1): 121-133.
59. Gardiner HM. Progression of fetal heart disease and rationale for fetal intracardiac interventions. Semin Fetal Neonatal Med 2005: 10 (6): 578-585.
60. Hogers B, DeRuiter MC, Gittenberger-de Groot AC, Poelmann RE. Unilateral vitelline vein ligation alters intracardiac blood flow patterns and morphogenesis in the chick embryo. Circ Res 1997: 80 (4): 473-481.
61. Rychter Z, Lemez L. The suppression of the left atrial anlage relating to the origin of the coarctation of aorta in chick embryos. Exp Anat Embryol Symp CSAV 1964: 35-43.
62. Sedmera D, Hu N, Weiss KM et al. Cellular changes in experimental left heart hypoplasia. Anat Rec 2002: 267 (2): 137-145.
63. Reckova M, Rosengarten C, Dealmeida A et al. Hemodynamics is a key epigenetic factor in development of the cardiac conduction system. Circ Res 2003: 93 (1): 77-85.
64. Hove JR, Koster RW, Forouhar AS et al. Intracardiac fluid forces are an essential epigenetic factor for embryonic cardiogenesis. Nature 2003: 421 (6919): 172-177.
65. Lee JS, Yu Q, Shin JT et al. Klf2 is an essential regulator of vascular hemodynamic forces in vivo. Dev Cell 2006: 11 (6): 845-857.
66. Yashiro K, Shiratori H, Hamada H. Haemodynamics determined by a genetic programme govern asymmetric development of the aortic arch. Nature 2007: 450 (7167): 285-288.
67. Pradat P. Recurrence risk for major congenital heart defects in Sweden: a registry study. Genet Epidemiol 1994: 11 (2): 131-140.
68. Allan LD, Crawford DC, Chita SK et al. Familial recurrence of congenital heart disease in a prospective series of mothers referred for fetal echocardiography. Am J Cardiol 1986: 58 (3): 334-337.
69. Cripe L, Andelfinger G, Martin LJ et al. Bicuspid aortic valve is heritable. J Am Coll Cardiol 2004: 44 (1): 138-143.
70. McBride KL, Pignatelli R, Lewin M et al. Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: segregation, multiplex relative risk, and heritability. Am J Med Genet A 2005: 134 (2): 180-186.
71. Hinton RB Jr, Martin LJ, Tabangin ME et al. Hypoplastic left heart syndrome is heritable. J Am Coll Cardiol 2007: 50 (16): 1590-1595.
72. Martin LJ, Ramachandran V, Cripe LH et al. Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. Hum Genet 2007: 121 (2): 275-284.
73. Kirk EP, Hyun C, Thomson PC et al. Quantitative trait loci modifying cardiac atrial septal morphology and risk of patent foramen ovale in the mouse. Circ Res 2006: 98 (5): 651-658.
74. Werner P, Raducha MG, Prociuk U et al. The keeshond defect in cardiac conotruncal development is oligogenic. Hum Genet 2005: 116 (5): 368-377.
75. Andelfinger G, Wright KN, Lee HS et al. Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9. J Med Genet 2003: 40 (5): 320-324.
76. McElhinney DB, Geiger E, Blinder J et al. NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol 2003: 42 (9): 1650-1655.
77. Goldmuntz E, Geiger E, Benson DW. NKX2.5 mutations in patients with tetralogy of fallot. Circulation 2001: 104 (21): 2565-2568.
78. Elliott DA, Kirk EP, Yeoh T et al. Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: Associations with atrial septal defect and hypoplastic left heart syndrome. J Am Coll Cardiol 2003: 41 (11): 2072-2076.
79. Tomita-Mitchell A, Maslen CL, Morris CD et al. GATA4 sequence variants in patients with congenital heart disease. J Med Genet 2007: 44 (12): 779-783.
80. Rajagopal SK, Ma Q, Obler D et al. Spectrum of heart disease associated with murine and human GATA4 mutation. J Mol Cell Cardiol 2007: 43 (6): 677-685.
81. Hirayama-Yamada K, Kamisago M, Akimoto K et al. Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. Am J Med Genet A 2005: 135 (1): 47-52.
82. Sarkozy A, Conti E, Neri C et al. Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. J MeE Genet 2005: 42 (2): e16.
83. Kirk EP, Sunde M, Costa MW et al. Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. Am J Hum Genet 2007: 81 (2): 280-291.
84. 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): 575-582.
85. 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): 987-994.
86. Guo DC, Pannu H, Tran-Fadulu V et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 2007: 39 (12): 1488-1493.
87. Zhu L, Vranckx R, Khau Van KP et al. Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet 2006: 38 (3): 343-349.
88. Matsson H, Eason J, Bookwalter CS et al. Alpha-cardiac actin mutations produce atrial septal defects. Hum Mol Genet 2008: 17 (2): 256-265.
89. Garg V, Muth AN, Ransom JF et al. Mutations in NOTCH1 cause aortic valve disease. Nature 2005: 437 (7056): 270-274.
90. Weismann CG, Gelb BD. The genetics of congenital heart disease: A review of recent developments. Curr Opin Cardiol 2007: 22 (3): 200-206.
91. 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): 465-468.
92. Gudbjartsson DF, Arnar DO, Helgadottir A et al. Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature 2007: 448 (7151): 353-357.
93. Mommersteeg MT, Brown NA, Prall OW et al. Pitx2c and Nkx2-5 are required for the formation and identity of the pulmonary myocardium. Circ Res 2007: 101 (9): 902-909.
94. Lejeune J, Turpin R, Gautier M. [Chromosomic diagnosis of mongolism]. Arch Fr Pediatr 1959: 16: 962-963.
95. Thienpont B, Mertens L, de Ravel T et al. Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J 2007: 28 (22): 2778-2784.
96. Redon R, Ishikawa S, Fitch KR et al. Global variation in copy number in the human genome. Nature 2006: 444 (7118): 444-454.
97. 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): 2843-2850.
98. Vissers LE, van Ravenswaaij CM, Admiraal R et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004: 36 (9): 955-957.
99. Lerman BB, Dong B, Stein KM et al. Right ventricular outflow tract tachycardia due to a somatic cell mutation in G protein subunitalphai2. J Clin Invest 1998: 101 (12): 2862-2868.
100. Reamon-Buettner SM, Borlak J. Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. J Med Genet 2004: 41 (9): 684-690.
101. Reamon-Buettner SM, Borlak J. GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart. J Med Genet 2005: 42 (5): E32.
102. Reamon-Buettner SM, Borlak J. TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts. Hum Mutat 2004: 24 (1): 104.
103. Majumdar R, Yagubyan M, Sarkar G et al. Bicuspid aortic valve and ascending aortic aneurysm are not associated with germline or somatic homeobox NKX2-5 gene polymorphism in 19 patients. J Thorac Cardiovasc Surg 2006: 131 (6): 1301-1305.
104. Gollob MH, Jones DL, Krahn AD et al. Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. N Engl J Med 2006: 354 (25): 2677-2688.
105. Buckingham M, Meilhac S, Zaffran S. Building the mammalian heart from two sources of myocardial cells. Nat Rev Genet 2005: 6 (11): 826-835.
106. Laugwitz KL, Moretti A, Caron L et al. Islet1 cardiovascular progenitors: A single source for heart lineages? Development 2008: 135 (2): 193-205.
107. Hoogaars WM, Barnett P, Moorman AF, Christoffels VM. T-box factors determine cardiac design. Cell Mol Life Sci 2007: 64 (6): 646-660.