Congenital cardiac disease and inbreeding: Specific defects escape higher risk due to parental consanguinity

Cardiology in the Young

Volumn 17, Issue 4, 2007, Pages 414-422

  Chehab, Ghassan ^a,b   Chedid, Philippe ^a   Saliba, Zakhia ^b   Bouvagnet, Patrice ^c,d,e  

^a LEBANESE UNIVERSITY   (Lebanon)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c INSERM   (France)

^d HOSPICES CIVILS DE LYON   (France)

^e UNIVERSITÉ LYON 1   (France)

Author keywords

Congenital heart disease; Consanguinity; Lebanon

Indexed keywords

ADOLESCENT; ADULT; AORTA VALVE STENOSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHI SQUARE TEST; CHILD; COHORT ANALYSIS; CONGENITAL HEART DISEASE; CONGENITAL HEART MALFORMATION; CONSANGUINITY; CONTROLLED STUDY; ENDOCARDIAL CUSHION DEFECT; FALLOT TETRALOGY; FEMALE; GREAT VESSELS TRANSPOSITION; HEALTH SURVEY; HEART ATRIUM SEPTUM DEFECT; HEREDITY; HIGH RISK PATIENT; HUMAN; HYPOPLASTIC LEFT HEART SYNDROME; INBREEDING; INFANT; LEBANON; MAJOR CLINICAL STUDY; MALE; REGISTER; RISK ASSESSMENT; VENTRICULOATRIAL SHUNT; X CHROMOSOMAL INHERITANCE;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CONSANGUINITY; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; INHERITANCE PATTERNS; LEBANON; MALE; PHENOTYPE; REGISTRIES;

EID: 34547665321     PISSN: 10479511     EISSN: 14671107     Source Type: Journal    
DOI: 10.1017/S1047951107000704     Document Type: Article

References (36)

1. Petrini J, Damus K, Russell R, Poschman K, Davidoff MJ, Mattison D. Contribution of birth defects in infant mortality in the United States. Teratology 2002; 66 (Suppl 1): S3-6.
2. Whittemore R, Wells JA, Castellsague X. A second-generation study of 427 probands with congenital heart defects and their 837 children. J Am Coll Cardiol 1994; 23: 1459-1467.
3. 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: 311-316.
4. Gatrad AR, Read AP, Watson GH. Consanguinity and complex cardiac anomalies with situs ambiguus. Arch Dis Child 1984; 59: 242-245.
5. Gev D, Roguin N, Freundlich E. Consanguinity and congenital heart disease in the rural Arab population in northern Israel. Hum Hered 1986; 36: 213-217.
6. Badaruddoza, Afzal M, Akhtaruzzaman. Inbreeding and congenital heart diseases in a North Indian population. Clin Genet 1994; 45: 288-291.
7. Becker SM, Al-Halees Z. First-cousin matings and congenital heart disease in Saudi Arabia. Community Genet 1999; 2: 69-73.
8. Bassili A, Mokhtar SA, Dabous NI, Zaher SR, Mokhtar MM, Zaki A. Risk factors for congenital heart diseases in Alexandria, Egypt. Eur J Epidemiol 2000; 6: 805-814.
9. Nabulsi MM, Tamim H, Sabbagh M, Obeid MY, Yunis KA, Bitar FF. Parental consanguinity and congenital heart malformations in a developing country. Am J Med Genet 2003; 116A: 342-347.
10. Subramanyan R, Joy J, Venugopalan P, Al Khusaiby S. Incidence and spectrum of congenital heart disease in Oman. Ann Trop Paediatr 2000; 20: 337-341.
11. Robida A, Folger GM, Hajar HA. Incidence of congenital heart disease in Qatari children. Int J Cardiol 1997; 60: 19-22.
12. Becker SM, Al-Halees Z, Molina C, Paterson RM. Consanguinity and congenital heart disease in Saudi Arabia. Am J Med Genet 2001; 99: 3-13.
13. 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: 195-221.
14. U.N.I.C.E.F. Condition of children in Lebanon 2000. U.N.I.C.E.F. and the Central Agency for Statistics, 2000, 31-33.
15. Stoltenberg C, Magnus P, Lie RT, Daltveit AK, Irgens LM. Birth defects and parental consanguinity in Norway. Am J Epidemiol 1997; 145: 439-448.
16. World Health Organization. Community control of genetics and congenital disorders. In: EMRO technical publications, series 24. Eastern Mediterranean Regional Office. Alexandria. 1997: 79.
17. Schott JJ, Benson DW, Basson CT, et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998; 281: 108-111.
18. Garg V, Kathiriya IS, Barnes R, et al. GATA4 mutations cause human congenital heart defects and reveal an interarction with TBX5. Nature 2003; 424: 443-447.
19. Ching YH, Ghosh TK, Cross SJ, et al. Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet 2005; 37: 423-428.
20. Garg V, Muth AN, Ransom JF, et al. Mutations in NOTCH1 cause aortic valve disease. Nature 2005; 437: 270-274.
21. Digilio MC, Marino B, Giannotti A, Toscano A, Dallapiccola B. Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion. J Med Genet 1997; 34: 188-190.
22. Wulfsberg EA, Zintz EJ, Moore JW. The inheritance of conotruncal malformations: A review and report of two siblings with tetralogy of Fallot with pulmonary atresia. Clin Genet 1991; 40: 12-16.
23. Goldmuntz E, Geiger E, Benson W. NKX2.5 mutations in patients with tetralogy of Fallot. Circulation 2001; 104: 2565-2568.
24. Pizzuti A, Sarkozy A, Newton AL, et al. Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. Hum Mutat 2003; 22: 372-377.
25. Nemer G, Fadlalah F, Usta J, et al. A novel mutation in the GATA4 gene in patients with tetralogy of Fallot. Hum Mutat 2006; 27: 293-294Mutation in Brief #881 Online.
26. O'Nuallain S, Hall JG, Stamm SJ. Autosomal dominant inheritance of endocardial cushion defect. Birth Defects Orig Artic Ser 1977; 13: 143-147.
27. Wilson L, Curtis A, Korenberg JR, et al. A large, dominant pedigree of atrioventricular septal defect (AVSD): Exclusion from the Down syndrome critical region on chromosome 21. Am J Hum Genet 1993; 53: 1262-1268.
28. Digilio MC, Marino B, Cicini MP, Giannotti A, Formigari R, Dallapiccola B. Risk of congenital heart defects in relatives of patients with atrioventricular canal. Am J Dis Child 1993; 147: 1295-1297.
29. Kumar A, Williams CA, Victoria BE. Familial atrioventricular septal defect: Possible genetic mechanisms. Br Heart J 1994; 71: 79-81.
30. Sheffield VC, Pierpont ME, Nishimura D, et al. Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis. Hum Mol Genet 1997; 6: 117-121.
31. 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: 1047-1052.
32. Zatyka M, Priestley M, Ladusans EJ, et al. Analysis of CRELD1 as a candidate 3p25 atrioventricular septal defect locus (AVSD2). Clin Genet 2005; 67: 526-528.
33. Bamford RN, Roessler R, Burdine RD, et al. Loss-of-function mutations in the EGF-CFC gene CFC1 are associate with human left-right laterality defects. Nat Genet 2000; 26: 365-369.
34. Megarbane A, Salem N, Stephan E, et al. X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3. Eur J Hum Genet 2000; 8: 704-708.
35. Digilio MC, Casey B, Toscano A, et al. Complete transposition of the great arteries: Patterns of congenital heart disease in familial precurrence. Circulation 2001; 104: 2809-2814.
36. Piacentini G, Digilio MC, Capolino R, et al. Familial recurrence of heart defects i subjects with congenitally corrected transposition of the great arteries. Am J Med Genet 2005; 137A: 176-180.