Genetic aspects of atrioventricular septal defects

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 97, Issue 4, 2000, Pages 289-296

  Pierpont, Mary Ella M ^a   Markwald, Roger R ^b   Lin, Angela E ^c  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Atrioventricular canal defect; Atrioventricular septal defect; Atrioventricular septal defect susceptibility gene; Down syndrome, heterotaxy; Endocardial cushion defect; Endocardial cushions

Indexed keywords

TRANSCRIPTION FACTOR;

ATRIOVENTRICULAR CANAL; CELL TRANSFORMATION; CHROMOSOME ABERRATION; EXTRACELLULAR MATRIX; GENETIC ANALYSIS; HEART DEVELOPMENT; HEART SEPTUM DEFECT; PRIORITY JOURNAL; REVIEW; SIGNAL TRANSDUCTION;

ABNORMALITIES, MULTIPLE; ANIMALS; BODY PATTERNING; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN; DISEASE MODELS, ANIMAL; DOWN SYNDROME; ENDOCARDIAL CUSHION DEFECTS; FETAL HEART; GENETIC HETEROGENEITY; HUMANS; MESODERM; MICE; MORPHOGENESIS; SPLEEN; SYNDROME; TRISOMY;

EID: 0034441195     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(200024)97:4<289::AID-AJMG1279>3.0.CO;2-U     Document Type: Review

References (75)

1. Amati F, Mari A, Mingarelli R, Gennarelli M, Digilio MC, Giannotti A, Marino BB, Novelli G, Dallapicolla B. 1995. Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region 8p. Am J Med Genet 57:483-488.
2. Basson CT, Cowley GS, Scott BA, Solomon SD, Weissman B, Poznanski AK, Traill TA, Seidman JG, Seidman CE. 1994. The clinical and genetic spectrum of the Holt-Oram syndrome (heart hand syndrome). N Engl J Med 330:885-891.
3. Basson CT, Huang T, Lin RC, Bachinsky DR, Weremowicz S, Vaglio A, Bruzzone R, Quadrelli R, Lerone M, Romeo G, Silengo M, Pereira A, Krieger J, Mesquita SF, Kamisago M, Morton CC, Pierpont MEM, Muller CW, Seidman JG, Seidman CE. 1999. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc Natl Acad Sci U S A 96:2919-2924.
4. Boghosian-Sell L, Mewar R, Harrison W, Shapiro RM, Zackai EH, Carey J, Davis-Keppen L, Hudgins L, Overhauser J. 1994. Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18. Am J Hum Genet 55:476-483.
5. Bonnet D, Pelet A, Legeai-Mallet L, Sidi D, Mathieu M, Parent P, Plauchu H, Serville F, Schinzel A, Weissenbach J, Kachaner J, Munnich A, Lyonnet S. 1994. A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12. Nat Genet 6:405-408.
6. Brown CB, Boyer AS, Runyan RB, Barnett JV. 1999. Requirement of type III TGF-β receptor for endocardial cell transformation in the heart. Science 283:2080-2082.
7. Byeon MK, Sugi Y, Markwald RR, Hoffman S. 1995. NCAM polypeptides in heart development: association with Z discs of forms that contain the muscle specific domain. J Cell Biol 128:209-221.
8. Carmi R, Boughman J, Ferencz C. 1992. Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence. Am J Med Genet 43:569-575.
9. Ciske DJ, Waggoner DJ, Dowton SB. 1998. Unique cardiac and cerebral anomalies with chondrodysplasia punctata. Am J Med Genet 75:59-61.
10. Clark EB. 1996. Pathologic mechanisms of congenital cardiovascular malformations revisited. Semin Perinatol 20:476-472.
11. Constam DB, Robertson EJ. 2000. Tissue-specific requirements for the proprotein convertase Furin/SPC1 during embryonic turning and heart looping. Development 127:245-254.
12. Cousineau AJ, Lauer RM, Pierpont ME, Burns TL, Ardinger RH, Patil SR, Sheffield VC. 1994. Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21. Hum Genet 93:103-108.
13. DeBiase L, Diconmo L, Ballerini L, Bevilacqua M, Marcelletti C, Marino B. 1986. Prevalence of left sided obstructive lesions in patients with atrioventricular canal without Down's syndrome. J Thorac Cardiovasc Surg 91:467-470.
14. Digilio MC, Giannotti A, Marino B, Dallapiccola B. 1993. Atrioventricular canal and 8p-syndrome. Am J Med Genet 47:437-438.
15. Digilio MC, Marino B, Ammirati A, Borzanga U, Giannotti A, Dallapiccola B. 1999a. Gardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia. Am J Med Genet 84:350-356.
16. Digilio MC, Marino B, Giannotti A, Dallapiccola B. 1995a. Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome. Hum Genet 96:251-253.
17. Digilio MC, Marino B, Giannotti A, Dallapiccola B. 1996. Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal. J Med Genet 33:416-418.
18. Digilio MC, Marino B, Giannotti A, Dallapiccola B. 1997. The atrioventricular canal defect is the congenital heart disease connecting short rib-polydactyly and oral-facial-digital syndromes. Am J Med Genet 68:110-112.
19. Digilio MC, Marino B, Giannotti A, Mingarelli R, Dallapiccola B. 1995b. Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome. Am J Med Genet 58:97-98.
20. Digilio MC, Marion B, Guccione P, Giannotti A, Mingarelli R, Dallapiccolla B. 1998. Deletion 8p syndrome. Am J Med Genet 75:534-536.
21. Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. 1999b. Atrioventricular canal defect without Down syndrome: a heterogenous malformation. Am J Med Genet 85:140-146.
22. DiSegni E, Pierpont ME, Bass JL, Kaplinsky E. 1985. Two-dimensional echocardiography in the detection of endocardial cushion defect in families. Am J Cardiol 55:1649-1652.
23. Dobyns WB, Dewald GW, Carlson RO, Mair DD, Michels VV. 1985. Deficiency of chromosome 8p21.1-8pter. Am J Med Genet 22:125-134.
24. Drumheller T, McGillivray BC, Behrner D, MasLeod P, McFadden DE, Roberson J, Venditti C, Chorney K, Chorney M, Smith DI. 1996. Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome. J Med Genet 33:842-847.
25. Eisenberg LM, Markwald RR. 1995. Molecular regulation of atrioventricular valvuloseptal morphogenesis. Circ Res 77:1-6.
26. Emanuel R, Somerville J, Inns A, Withers R. 1983. Evidence of congenital heart disease in the offspring of parents with atrioventricular defects. Br Heart J 49:144-147.
27. Ferencz C, Loffredo CA, Correa-Villasenor A, Wilson PD. 1997. Genetic and environmental risk factors of major cardiovascular malformations: the Baltimore-Washington Infant Study 1981-1989. Armonk, N.Y.: Futura Publishing Co. p 103-122.
28. Ferencz C, Neill CA, Boughman JA, Rubin JD, Brenner JI, Perry LW. 1989. Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study. J Pediatr 114:79-86.
29. Francalanci P, Marino B, Boldrini R, Abella R, Iorio F, Bosman C. 1996. Morphology of the atrioventricular value in asplenia syndrome. A peculiar type of atrioventricular vanal defect. Cardiovasc. Pathol 5:145-151.
30. Gebbia M, Ferrero GB, Pilia G, Bassi MT, Alysworth AS, Penman-Splitt M, Bird LM, Banforth JS, Burn J, Schlessinger D, Nelson DC, Casey B. 1997. X-linked situs abnormalitiesresult from mutations in ZIC3. Nat Genet 17:305-308.
31. Gennarelli M, Novelli G, Digilio MC, Giannotti A, Marino B, Dallapiccola B. 1994. Exclusion of linkage with chromosome 21 in families with recurrence of non-Down's atrioventricular canal. Hum Genet 94:708-710.
32. Giglio S, Graw SL, Gimelli G, Pirola B, Varone P, Voullaire L, Lerzo F, Rossi E, Dellavecchia C, Bonaglia MC, Digilio MC, Giannotti A, Marino B, Carrozzo R, Korenberg JR, Danesino C, Sujansky E, Dallapiccola B, Zuffardi O. 2000. Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation 102:432-437.
33. Green EK, Priestley MD, Waters J, Maliszewska C, Latif F, Maher ER. 2000. Detailed mapping of a congenital heart disease gene in chromosome 3p25. J Med Genet 37: 581-587.
34. Hiltgen GG, Markwald RR, Litke LL. 1996. Morphogenetic alterations during endocardial cushion development in the trisomy 16 (Down syndrome) mouse. Pediatr Cardiol 17:21-30.
35. Huggon IC, Cook AC, Smeeton NC, Magee AG, Sharland GK. 2000. Atrioventricular septal defects diagnosed in fatal life: associated cardiac and extra-cardiac abnormalities and outcome. J Am Coll Cardiol 36:593-601.
36. Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, Jeffery S, Patton MA, Mariman E. 1994. Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet 8: 357-360.
37. Kathiriya IS, Srivistava D. 2000. Left-right asymmetry and cardiac looping: implications for cardiac development and cardiovascular malformations. Am J Med Genet 97:000-000.
38. Kitajima S, Takagi A, Inoue T, Saga Y. 2000. MesP1 and MesP2 are essential for the development of cardiac mesoderm. Development 127:3215-3226.
39. Korenberg JR, Barlow GM, Chen XN, Lyons G, Mjaatvedt C, Pettenati M, VanRiper AJ, Vekemens M. 2000. Down syndrome congenital heart disease: narrowed region and DSCAM as a candidate gene. In: Clark EB, Nakazawa M, Takao A, editors. Etiology and morphogenesis of congenital heart disease: twenty years of progress in genetics and developmental biology. Armonk, N.Y.: Futura. p 365-370.
40. Korenberg JR, Barlow GM, Person T, Jongewaard IN, Klewer SE, Runyan RB. 1999. Betwixt mouse and man: a chick model of DS heart disease. Am J Hum Genet 65:A43.
41. Korenberg JR, Chen X-N, Schipper R, Sun Z, Gonsky R, Gerwehr S, Carpenter N, Daumer C, Dignan P, Disteche C, et al. 1994. Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci U S A 91:4997-5001.
42. Kosaki K, Bassi MT, Lewin M, Belmont J, Schauer G, Casey B. 1999a. 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 64:712-721.
43. Kosaki R, Gebbia M, Kosaki K, Lewin M, Bowers P, Towbin JA, Casey B. 1999b. Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. Am J Med Genet 82:70-76.
44. Kumar A, Williams CA, Victorica BE. 1994. Familial atrioventricular septal defect: possible genetic mechanisms. Br Heart J 71:79-81.
45. Lin A, Chin AJ, Devine W, Park SC, Zackai E. 1987. The pattern of cardiovascular malformation in the CHARGE association. Am J Dis Child 141:1010-1013.
46. Lin A, Ardinger HH, Ardinger RH, Cunniff C, Kelley RI. 1997. Cardiovascular malformations in Smith-Lemli-Opitz syndrome. Am J Med Genet 68:270-278.
47. Lin A, Ticho BS, Houde K, Westgate MN, Holmes LB. 2000. Heterotaxy: associated conditions and hospital-based prevalence in newborns. Genet Med 2:157-172.
48. Lohr J, Yost HJ. 2000. Vertebrate model systems in the study of early heart development: Xenopus and zebrafish. Am J Med Genet 97:000-000.
49. Marino B, Digilio MC, Papa M, Giannotti A, Dallapiccola B. 1991. Turner's syndrome with atrioventricular canal. Pediatr Cardiol 12:245-246.
50. Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B. 1999. Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 135:703-706.
51. Marino B, Gagliardi MG, Digilio MC, Polletta B, Grazioli S, Agostino D, Giannotti A, Dallapiccola B. 1995. Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstruction. Eur J Pediatr 154:949-952.
52. Marino B, Reale A, Giannotti A, Digilio MC, Dallapiccola B. 1992. Nonrandom association of atrioventricular canal and del (8p) syndrome Am J Med Genet 42:424-427.
53. Marino B, Vairo U, Corno A, Nava S, Guccione P, Calabro R, Marcelletti C. 1990. Atrioventricular canal in Down syndrome: prevalence of associated cardiac malformations compared with patients without Down syndrome. Am J Dis Child 144:1120-1122.
54. Markwald R, Eisenberg C, Eisenberg L, Trusk T, Sugi Y. 1996. Epithelial-mesenchymal transformations in early avian heart developement. Acta Anat 156:173-186.
55. Markwald RR, Trusk T, Moreno-Rodriguez R. 1998. Formation and septation of the tubular heart: integrating the dynamics of morphology with emerging molecular concepts. In: de la Cruz MV, Markwald RR, editors. Living morphogenesis of the heart. Boston: Birkhauser. p 58-84.
56. Maslen CL, Rupp PA, Olson SB, Reifsteck CA, Thomburg KL, Glanville RW. 1999. Characterization of cirrin, a new extracellular protein that is associated with endocardial cushion defects in 3p-syndrome. Am J Hum Genet 65:A43.
57. Mazzanti L, Cacciari E. 1998. Congenital heart disease in patients with Turner Syndrome. Italian Study Grasp of Turner Syndrome (ISGTS). J Pediatr 133:688-692.
58. Mjaatvedt CH, Yamamura H, Capehart AA, Turner D, Markwald RR. 1998. The Cspg2 gene, disrupted in the hdf mutant is required for right cardiac chamber and endocardial cushion formation. Dev Biol 202:56-66.
59. Mjaatvedt CH, Yamamura H, Wessels A, Ramsdell A, Turner D, Markwald RR. 1999. Mechanisms of segmentation, segmentation, and remodeling of the tubular heart: endocardial cushion fate and cardiac looping. In: Harvey RP, Rosenthal N, editors. Heart development. San Diego: Academic Press. p 159-176.
60. Molkentin JD, Lin Q, Duncan SA, Olson EN. 1997. Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Genes Dev 11:1061-1072.
61. Neri G, Gurrieri F, Genuardi M. 1995. Oral-facial-skeletal syndromes. Am J Med Genet 59:365-368.
62. O'Nuallian S, Hall JG, Stamm SJ. 1977. Autosomal dominant inheritance of endocardial cushion defect. Birth Defects 13:143-147.
63. Peoples WM, Moller JH, Edwards JE. 1983. Polysplenia: a review of 146 cases. Pedcardiol 4:129-137.
64. Phoon CK, Neill CA. 1994. Asplenia syndrome: insight into embryology through an analysis of cardiac and extracardiac enomalies. Am J Cardiol 73:581-587.
65. Pierpont MEM, Gorlin RJ, Moller JH. 1987. Chromosome abnormalities. In: Pierpont MEM, Moller JH, editors. Genetics of cardiovascular disease. Boston: Martinus Nijhoff Publishing, p 69-94.
66. Potocki L, Abuelo DN, Oyer CE. 1995. Cardiac malformation in two infants with hypochondrogenesis. Am J Med Genet 59:295-299.
67. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Seguffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchewll E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Patton M, Paterson J, Scambler PJ. 1997. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798-804.
68. Schneider H, Brueckner M. 2000. Of mice and men: dissecting the genetic pathway that controls left right asymmetry in mice and humans. Am J Med Genet 97:000-000.
69. Schunkert H, Brockel U, Kromer EP, Elsner D, Jacob HJ, Riegger GAJ. 1997. A large pedigree with valvuloseptal defects. Am J Cardiol 80:968-970.
70. Sheffield VC, Pierpont ME, Nishimura D, Beck JS, Burns TL, Berg MA, Stone EM, Patil SR, Lauer RM. 1997. Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis. Hum Mol Genet 6:117-121.
71. Sletten LJ, Pierpont MEM. 1996. Variation in severity of cardiac disease in Holt-Oram syndrome. Am J Med Genet 65:128-132.
72. Srivastava D, Cserjesi P, Olson EN. 1995. A subclass of bHLH proteins required for cardiogenesis. Science 70:1995-1999.
73. Wilson L, Curtis A, Korenberg JR, Schipper RD, Allan L, Chenevix-Trench G, Stephenson A, Goodship J, Burn J. 1993. A large dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21. Am J Hum Genet 53:1262-1268.
74. Wunsch AM, Little CD, Markwald RR. 1994. Cardiac endothelial heterogeneity defines valvular development as demonstrated by the diverse expression of JB3, an antigen of the endocardial cushion tissue. Dev Biol 165:585-601.
75. Yao J, Thompson MW, Trusler GA, Trimble AS. 1968. Familial atrial septal defect of the primum type: a report of four cases in one sibship. Can Med Assoc J 98: 218-219.