Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot

Clinical Dysmorphology

Volumn 15, Issue 2, 2006, Pages 65-70

  Vergara, Pasquale ^a   Digilio, Maria Cristina ^b   Zorzi, Andrea De ^b   Carlo, Duccio Di ^b   Capolino, Rossella ^b   Rimini, Alessandro ^c   Pelegrini, Monica ^c   Calabrò, Raffaele ^d   Marino, Bruno ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

Atrioventricular canal defect; Chromosome imbalances; Down syndrome; Dysmorphism; Mendelian syndrome; Tetralogy of Fallot

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ASSOCIATION OF CONGENITAL DEFECTS; ATRIOVENTRICULAR CANAL; ATRIOVENTRICULAR CANAL DEFECT; BRAIN MALFORMATION; CANTRELL SYNDROME; CHILD; CHROMOSOME 22Q; CHROMOSOME 5P; CHROMOSOME 8P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; CRANIOCEREBELLOCARDIAC SYNDROME; DIGEORGE SYNDROME; DOWN SYNDROME; FALLOT TETRALOGY; FEMALE; GENETIC HETEROGENEITY; GREAT VESSELS TRANSPOSITION; HUMAN; MAJOR CLINICAL STUDY; MALE; MATERNAL DIABETES MELLITUS; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SYNDROME CHARGE; SYNDROME VACTERL; TRISOMY 13;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; ENDOCARDIAL CUSHION DEFECTS; FEMALE; GENETIC HETEROGENEITY; HUMANS; INCIDENCE; INFANT; MALE; PHENOTYPE; TETRALOGY OF FALLOT;

EID: 33749235671     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000198925.94082.ea     Document Type: Article

References (43)

1. Alonso J, Nunez P, Perez de Leon J, Sanchez PA, Villagra F, Gomez R, et al. (1990). Complete atrioventricular canal and tetralogy of Fallot: surgical management. Eur J Cardiothorac Surg 4:297-299.
2. Amati F, Mari A, Digilio MC, Mingarelli R, Marino B, Giannotti A, et al. (1995). 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum Genet 95:479-482.
3. Anaclerio S, Marino B, Carotti A, Digilio MC, Toscano A, Gitto P, et al. (2001). Pulmonary atresia with ventricular septal defect: prevalence of deletion 22q11 in the different anatomic pattern. Ital Heart J 2:384-387.
4. Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, et al. (1999). Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 104:1567-1573.
5. Bertolini A, Dalmonte P, Bava GL, Calza G, Lerzo F, Zannini L, et al. (1996). Surgical management of complete atrioventricular canal associated with tetralogy of Fallot. Cardiovasc Surg 4:299-302.
6. Carmi R, Boughman JA, Ferencz C (1992). Endocardial cushion defect: further studies of 'isolated' versus 'syndromic' occurrence. Am J Med Genet 43:569-575.
7. Delius RE, Kumar RV, Elliott MJ, Stark J, de Leval MR (1997). Atrioventricular septal defect and tetralogy of Fallot: a 15-year experience. Eur J Cardiothorac Surg 12:171-176.
8. Devriendt K, Matthijs G, Van Dael R, Gewilling M, Eyskens B, Hjalgrim H, et al. (1999). Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1. Am J Hum Genet 64:1119-1126.
9. Digilio MC, Marino B, Formigari R, Giannotti A (1995a). Maternal diabetes causing DiGeorge anomaly and renal agenesis. Am J Med Genet 55:513-514.
10. 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.
11. Digilio MC, Marino B, Grazioli S, Agostino D, Giannotti A, Dallapiccola B (1996). Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia. Am J Cardiol 77:1375-1376.
12. Digilio MC, Marino B, Guccione P, Giannotti A, Mingarelli R, Dallapiccola B (1998a). Deletion 8p syndrome. Am J Med Genet 75:534-536.
13. Digilio MC, Marino B, Canepa SA, Borzaga U, Giannotti A, Dallapiccola B (1998b). Congenital heart defect in sibs with discordant karyotypes. Am J Med Genet 80:169-172.
14. Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B (1999). Atrioventricular canal defect without Down syndrome: a heterogeneous malformation. Am J Med Genet 85:140-146.
15. Digilio MC, Dallapiccola B, Marino B (2005). Association of deletion 22 and trisomy 21: a likely random association in patients with conotruncal heart defects. Am J Med Genet 134A:1-2.
16. Ferencz C, Rubin JD, Loffredo CA, Magee CA (1993). Epidemiology of congenital heart disease: The Baltimore-Washington Infant Study. Mt Kisko, New York: Futura Publishing Co.
17. Gatzoulis MA, Shore D, Yacoub M, Shinebourne EA (1994). Complete atrioventricular septal defect with tetralogy of Fallot: diagnosis and management. Br Heart J 71:579-583.
18. Gelb BD, Towbin JA, McCabe ER, Sujansky E (1991). San Luis Valley recombinant chromosome 8 and tetralogy of Fallot: a review of chromosome 8 anomalies and congenital heart disease. Am J Med Genet 40:471-476.
19. Giglio S, Graw SL, Gimelli G, Pirola B, Varone P, Voullaire L, et al. (2000). Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. Circulation 102:432-437.
20. Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, et al. (1998). Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 32:492-498.
21. Goldmuntz E, Geiger E, Benson DW (2001). NKX2.5 mutations in patients with tetralogy of Fallot. Circulation 104:2565-2568.
22. Kosaki K, Curry CJ, Roeder E, Jones KL (1997). Ritscher-Schinzel (3C) syndrome: documentation of the phenotype. Am J Med Genet 68:421-427.
23. Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, et al. (2001). Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 410:97-101.
24. Loffredo CA, Ferencz C, Wilson PD, Lurie IW (2000). Interrupted aortic arch: an epidemiologic study. Teratology 61:368-375.
25. Marino B, Digilio MC (2000). Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype. Cardiovasc Pathol 9:303-315.
26. Marino B, Vairo U, Corno A, Nava S, Guccione P, Calabrò 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.
27. 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.
28. McElhinney DB, Reddy VM, Silverman NH, Brook MM, Hanley FL (1998). Atrioventricular septal defect with common valvar orifice and tetralogy of Fallot revisited: making a case for primary repair in infancy. Cardiol Young 8:455-461.
29. O'Blenes SB, Ross DB, Nanton MA, Murphy DA (1998). Atrioventricular septal defect with tetralogy of Fallot: results of surgical correction. Ann Thorac Surg 66:2078-2082; discussion 2082-2084.
30. Pierpont ME, Markwald RR, Lin AE (2000). Genetic aspects of atrioventricular septal defects. Am J Med Genet 97:289-296.
31. Pizzuti A, Sarkozy A, Newton AL, Conti E, Flex E, Digilio MC, Amati F, Gianni D, Tandoi C, Marino B, Crossley M, Dallapiccola B (2003). Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. Hum Mutat 22:372-377.
32. Rastelli G, Kirklin JW, Titus JL (1966). Anatomic observations on complete form of persistent common atrioventricular canal with special reference to atrioventricular valves. Mayo Clin Proc 41:296-308.
33. Ritscher D, Schinzel A, Boltshauser E, Briner J, Arbenz U, Sigg P (1987). Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome? Am J Med Genet 26:481-491.
34. Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, Maslen CL (2003). Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet 72:1047-1052.
35. Rowe RD, Uchida IA (1961). Cardiac malformation in mongolism: a prospective study of 184 mongoloid children. Am J Med 31:726-735.
36. Schmid FX, Kampmann C, Hake U, Choi YH, Wippermann F, Oelert H (2000). Complete atrioventricular septal defect associated with tetralogy of Fallot. Favourable outcome of transatrial transpulmonary repair. J Cardiovasc Surg (Torino) 41:17-21.
37. Svensson EC, Huggins GS, Lin H, Clendenin C, Jiang F, Tufts R, et al. (2000). A syndrome of tricuspid atresia in mice with a targeted mutation of the gene encoding Fog-2. Nat Genet 25:353-356.
38. Thiene G, Frescura C, Di Donato R, Gallucci V (1979). Complete atrioventricular canal associated with conotruncal malformations: anatomical observations in 13 specimens. Eur J Cardiol 9:199-213.
39. Trip J, van Stuijvenberg M, Dikkers FG, Pijnenburg MW (2002). Unilateral CHARGE association. Eur J Pediatr 161:78-80.
40. Uretzky G, Puga FJ, Danielson GK, Feldt RH, Julsrud PR, Seward JB, et al. (1984). Complete atrioventricular canal associated with tetralogy of Fallot. Morphologic and surgical considerations. J Thorac Cardiovasc Surg 87:756-766.
41. Wyse RK, al-Mahdawi S, Burn J, Blake K (1993). Congenital heart disease in CHARGE association. Pediatr Cardiol 14:75-81.
42. Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, et al. (2003). Role of TBX1 in human del22q11.2 syndrome. Lancet 362:1366-1373.
43. Zhao Y, Meng X, Cao H, Mi L, Liew CC, Ding J (2002). Molecular cloning and characterization of a potential candidate gene for nonsyndromic atrioventricular septal defect on 1p31-1p21 [abstract]. J Am Coll Cardiol 39:408.