Patterns of recurrence of congenital heart disease: An analysis of 6,640 consecutive pregnancies evaluated by detailed fetal echocardiography

Journal of the American College of Cardiology

Volumn 42, Issue 5, 2003, Pages 923-929

  Gill, Harinder K ^a   Splitt, Miranda ^a   Sharland, Gurleen K ^a   Simpson, John M ^a,b  

^a GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^b GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AORTA COARCTATION; AORTA STENOSIS; ARTICLE; CHROMOSOME DELETION; CHROMOSOME DELETION 22; CONGENITAL HEART DISEASE; ECHOCARDIOGRAPHY; FALLOT TETRALOGY; FAMILY HISTORY; FETUS; FETUS ECHOGRAPHY; FOLLOW UP; GREAT VESSELS TRANSPOSITION; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPOPLASTIC LEFT HEART SYNDROME; LUNG ATRESIA; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; RECURRENT DISEASE;

EID: 0041864052     PISSN: 07351097     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0735-1097(03)00853-2     Document Type: Article

References (34)

1. Raymond FL, Simpson JM, Sharland GK, Ogilvie Mackie CM. Fetal echocardiography as a predictor of chromosomal abnormality. Lancet 1997;350:930.
2. Nora JJ, Nora AH. The evolution of specific genetic and environmental counseling in congenital heart diseases. Circulation 1978;57:205-13.
3. Whittemore R, Hobbins JC, Engle MA. Pregnancy and its outcome in women with and without surgical treatment of congenital heart disease. Am J Cardiol 1982;50:641-51.
4. Rose V, Gold RJ, Lindsay G, Allen M. A possible increase in the incidence of congenital heart defects among the offspring of affected parents. J Am Coll Cardiol 1985;6:376-82.
5. Allan LD, Crawford DC, Chita SK, Anderson RH, Tynan MJ. Familial recurrence of congenital heart disease in a prospective series of mothers referred for fetal echocardiography. Am J Cardiol 1986;58:334-7.
6. 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;351:311-6.
7. Tynan MJ, Becker AE, Macartney FJ, Jimenez MQ, Shinebourne EA, Anderson RH. Nomenclature and classification of congenital heart disease. Br Heart J 1979;41:544-53.
8. 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;23:1459-67.
9. Maestri NE, Beaty TH, Liang KY, Boughman JA, Ferencz C. Assessing familial aggregation of congenital cardiovascular malformations in case-control studies. Genet Epidemiol 1988;5:343-54.
10. Maestri NE, Beaty TH, Boughman JA. Etiologic heterogeneity in the familial aggregation of congenital cardiovascular malformations. Am J Hum Genet 1989;45:556-64.
11. Gerboni S, Sabatino G, Mingareili R, Dallapiccola B. Coarctation of the aorta, interrupted aortic arch, and hypoplastic left heart syndrome in three generations. J Med Genet 1993;30:328-9.
12. 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;147:1295-7.
13. 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;53:1262-8.
14. Emanuel R, Somerville J, Inns A, Withers R. Evidence of congenital heart disease in the offspring of parents with atrioventricular defects. Br Heart J 1983;49:144-7.
15. 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;6:117-21.
16. Digilio MC, Marino B, Musolino AM, Giannotti A, Dallapiccola B. Familial recurrence of nonsyndromic interrupted aortic arch and truncus arteriosus with atrioventricular canal. Teratology 2000;61:329-31.
17. Digilio MC, Casey B, Toscano A, et al. Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence. Circulation 2001;104:2809-14.
18. Udwadia AD, Khambadkone S, Bharucha BA, Lokhandwala Y, Irani SF. Familial congenital valvar pulmonary stenosis: autosomal dominant inheritance. Pediatr Cardiol 1996;17:407-9.
19. Krantz ID, Smith R, Colliton RP, et al. Jagged1 mutations in patients ascertained with isolated congenital heart defects. Am J Med Genet 1999;84:56-60.
20. Alonso S, Pierpont ME, Radtke W, et al. Heterotaxia syndrome and autosomal dominant inheritance. Am J Med Genet 1995;56:12-5.
21. Zlotogora J, Schimmel MS, Glaser Y. Familial situs inversus and congenital heart defects. Am J Med Genet 1987;26:181-4.
22. Gebbia M, Ferrero GB, Pilia G, et al. X-linked situs abnormalities result from mutations in ZIC3. Nat Genet 1997;17:305-8.
23. Morelli S, Pagotto L, Reid H, Ruttenberg H, Yost HJ. A gene for laterality defects maps to 3p14.2-3p12 (abstr). Am J Hum Genet 1999;65 Suppl:A31.
24. Casey B. Genetics of human situs abnormalities. Am J Med Genet 2001;101:356-8.
25. Wilkie AO, Taylor D, Scambler PJ, Baraitser M. Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome? Clin Dysmorphol 1993;2:114-9.
26. Ferencz C, Rubin JD, McCarter RJ, Clark EB. Maternal diabetes and cardiovascular malformations: predominance of double outlet right ventricle and truncus arteriosus. Teratology 1990;41:319-26.
27. Corone P, Bonaiti C, Feingold J, Fromont S, Berthet-Bondet D. Familial congenital heart disease: how are the various types related? Am J Cardiol 1983;51:942-5.
28. Davison BC. Concordance and discordance of congenital heart disease in 20 families. J Med Genet 1967;4:245-50.
29. McFadden DG, Olson EN. Heart development: learning from mistakes. Curr Opin Genet Dev 2002;12:328-35.
30. Schott JJ, Benson DW, Basson CT, et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998;281:108-11.
31. Goldmuntz E, Geiger E, Benson DW. NKX2.5 mutations in patients with tetralogy of Fallot. Circulation 2001;104:2565-8.
32. Katsanis N, Ansley SJ, Badano JL, et al. Triallelic inheritance in Bardet-Biedl syndrome, a mendelian recessive disorder. Science 2001;293:2256-9.
33. Gatrad AR, Read AP, Watson GH. Consanguinity and complex cardiac anomalies with situs ambiguus. Arch Dis Child 1984;59:242-5.
34. Oh SP, Li E. Gene-dosage-sensitive genetic interactions between inversus viscerum (iv), nodal, and activin type IIB receptor (ActRIIB) genes in asymmetrical patterning of the visceral organs along the left-right axis. Dev Dyn 2002;224:279-90.