Epidemiology of cardiovascular malformations: Prevalence and risk factors

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 97, Issue 4, 2000, Pages 319-325

  Loffredo, Christopher A ^a  

^a GEORGETOWN UNIVERSITY   (United States)

Author keywords

Cardiovascular malformations; Congenital heart defects; Epidemiology; Prevalence; Prevention; Risk factors

Indexed keywords

CARDIOVASCULAR MALFORMATION; DIABETES MELLITUS; ENVIRONMENT; FAMILIAL DISEASE; GENETIC RISK; GENETIC SUSCEPTIBILITY; MORPHOGENESIS; PREVALENCE; PRIORITY JOURNAL; REVIEW; RISK FACTOR;

ABNORMALITIES, DRUG-INDUCED; ABNORMALITIES, MULTIPLE; ADULT; ANTICONVULSANTS; BALTIMORE; CARDIOVASCULAR ABNORMALITIES; CASE-CONTROL STUDIES; DIABETES, GESTATIONAL; DISTRICT OF COLUMBIA; FEMALE; FOLIC ACID; HUMANS; INFANT; INFANT, NEWBORN; MALE; MATERNAL EXPOSURE; PATERNAL EXPOSURE; PESTICIDES; PREGNANCY; PREGNANCY COMPLICATIONS; PREVALENCE; RESEARCH DESIGN; RISK FACTORS; SMOKING; SOLVENTS; VIRGINIA;

EID: 0034444407     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(200024)97:4<319::AID-AJMG1283>3.0.CO;2-E     Document Type: Review

References (84)

1. Bao Y-S, Cai S, Zhao SF, Zhang XC, Huang MY, Zheng O, Jiang H. 1991. Birth defects in the offspring of female workers occupationally exposed to carbon disulfide in China. Teratology 43:451-452.
2. Becerra JE, Khoury MJ, Cordero JF, Erickson JD. 1990. Diabetes mellitus during pregnancy and the risks for specific birth defects: a population-based case-control study. Pediatrics 85:1-9.
3. Bentur Y, Koren G. 1994. The common occupational exposures encountered by pregnant women. In: Koren G, editor. Maternal-fetal toxicology: a clinician's guide, 2nd edition. New York: Marcel Dekker. p 425-445.
4. Bossi L. 1983. Fetal effects of anticonvulsants. In: Moreslli PL, Pippenger CE, Penry JK, editors. Antiepileptic drug therapy in pediatrics New York: Raven Press. p. 37-64.
5. Botto LD, Khoury MJ, Mulinare J, Erickson JD. 1996. Periconceptional multivitamin use and the occurrence of conotruncal heart defects: results from a population-based, case-control study. Pediatrics 98:911-917.
6. Botto LD, Yang Q. 2000. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 151:862-877.
7. Boughman JA, Berg KA, Astemborski JA, Clark EB, McCarter RJ, Rubin JD, Ferencz C. 1987. Familial risks of congenital heart defect assessed in a population-based epidemiologic study. Am J Hum Genet 26:839-849.
8. Bracken MB. 1986. Drug use in pregnancy and congenital heart disease in offspring [Letter]. N Engl J Med 314:1120.
9. Burn J. 1983. Congenital heart defects: the risks to offspring. Arch Dis Child 58:947-948.
10. Burn J, Brennan P, Little J, Holloway S, Coffey R, Somerville J, Dennis NR, Allan L, Arnold R, Deanfield JE, Godman M, Houston A, Keeton B, Oakley C, Scott O, Silove E, Wilkinson J, Pembrey M, Hunter AS. 1998. Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet 351:311-316.
11. Cordier S, Ha M-C, Ayme S, Goujard J. 1992. Maternal occupational exposure and congenital malformations. Scand J Work Environ Health 18:11-17.
12. Correa-Villaseñor A, Ferencz C, Boughman JA, Neill CA. 1991a. Total anomalous pulmonary venous return: genetic and environmental factors. Teratology 44:415-428.
13. Correa-Villaseñor A, Ferencz C, Neill CA, Wilson PD, Boughman JA. 1994. Ebstein's malformation of the tricuspid valve: genetic and environmental factors. Teratology 50:137-147.
14. Correa-Villaseñor A, McCarter R, Downing J, Ferencz C. 1991b. White-black differences in cardiovascular malformations in infancy and socioeconomic factors. Am J Epidemiol 134:393-402.
15. Dansky LV, Finnell RH. 1991. Parental epilepsy, anticonvulsant drugs and reproductive outcome: epidemiologic and experimental findings spanning three decades. II. Human studies. Reprod Toxicol 5:301-335.
16. Dawson BV, Johnson PD, Goldberg SJ, Ulreich JB. 1990. Cardiac teratogenesis of trichloroethylene and dichloroethylene in a mammalian model. J Am Coll Cardiol 16:1304-1309.
17. Dawson BV, Johnson PD, Goldberg SJ, Ulreich JB. 1993. Cardiac teratogenesis of halogenated hydrocarbon-contaminated drinking water. J Am Coll Cardiol 21:1466-1472.
18. D'Orsogna L, Sandor GGS, Patterson MWH, Ashmore PG, LeBlanc J, Culham JAG. 1989. Influence of echocardiography in pre-operative cardiac catheterization in congenital heart disease. Int J Cardiol 24:19-26.
19. Ewing CK, Loffredo CA, Beaty TH. 1997. Paternal risk factors for isolated membranous ventricular septal defects. Am J Med Genet 71:42-46.
20. Feinstein AR. 1985. Clinical epidemiology Philadelphia: WB Saunders Co.
21. Ferencz C, Correa-Villaseñor A. 1991. Epidemiology of cardiovascular malformations: the state of the art. Cardiol Young 1:264-284.
22. Ferencz C, Loffredo CA, Correa-Villaseñor 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.
23. Ferencz C, Rubin JD, Loffredo CA, Magee CA. 1993. Epidemiology of congenital heart disease: the Baltimore-Washington Infant Study, 1981-1989. Mt. Kisko, NY: Futura Publishing Co.
24. Ferencz C, Rubin JD, McCarter RJ, Clark EB. 1990. Maternal diabetes and cardiovascular malformations: predominance of double outlet right ventricle and truncus arteriosus. Teratology 41:319-326.
25. Fixler DE, Pastor P, Chamberlin M, Sigman E, Eifler CW. 1990. Trends in congenital heart disease in Dallas county births, 1971-1984. Circulation 81:137-142.
26. Goldberg SJ, Lebowitz MD, Graver EJ, Hicks S. 1990. An association of human congenital cardiac malformations and drinking water contaminants. J Am Coll Cardiol 16:155-164.
27. Grabitz RG, Joffre MR, Collins-Nakai RL. 1988. Congenital heart disease: incidence in the first year of life. Am J Epidemiol 128:381-388.
28. Hanson JW, Myrianthopoulos NC, Sedgwick Harvey MA, Smith DW. 1976. Risks to the offspring of women treated with hydantoin anticonvulsants, with emphasis on the fetal hydantoin syndrome. J Pediatr 89:662-668.
29. Hwang SJ, Beaty TH, Panny SR, Street NA, Joseph JM, Gordon S, McIntosh I, Francomano CA. 1995. Association study of transforming growth factor alpha (TGFα) Taq1 polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects. Am J Epidemiol 141:629-636.
30. International Society of Cardiology. 1970. Classification of heart disease in childhood Groningen: VRB Offsetdrukkerij.
31. Karr SS, Brenner JI, Loffredo C, Neill CA, Rubin JD. 1992. Tetralogy of Fallot: the spectrum of severity in a regional study. Am J Dis Child 146:121-124.
32. Kleinbaum DG, Kupper LL, Muller KE. 1988. Applied regression analysis and other multi-variable methods Boston: PWS Kent
33. Lammer EJ, Chen DT, Hoar RM, Agnish ND, Benke PJ, Braun JT, Curry CJ, Fernhoff PM, Grix AWJ, Lott IT, Richard JM, Sun SC. 1985. Retinoic acid embryopathy. N Engl J Med 313:837-841.
34. Lamy M, De Grouchy J, Schweisguth O. 1957. Genetic and non-genetic factors in the aetiology of congenital heart disease: a study of 1,188 cases. Am J Hum Genet 9:17-41.
35. Lenz W. 1988. A short history of thalidomide embryopathy. Teratology 38:203-215.
36. Lewis DA, Loffredo CA, Correa-Villaseñor A, Wilson PD, Martin GR. 1996. Descriptive epidemiology of membranous and muscular ventricular septal defects in the Baltimore-Washington Infant Study. Cardiol Young 6:281-290.
37. Loeber CP, Hendrix MJC, de Pinos SD, Goldberg SJ. 1988. Trichloroethylene: a cardiac teratogen in developing chick embryos. Pediatr Res 26:740-744.
38. Loffredo CA, Beaty TH, Silbergeld EK. 1997a. Solvent and paint exposures interact with polymorphisms in glutathione-S-transferase genes to increase the risk of congenital heart defects. Teratology 55:42A.
39. Loffredo CA, Beaty TH, Silbergeld EK. 1997b. Markers of polymorphic glutathione-S-transferase genes unmask an unsuspected risk factor for atrial septal defect in infants. Am J Epidemiol 145: suppl).S30.
40. Loffredo CA, Ewing CK. 1996. Use of stored newborn blood spots in research on birth defects: variation in retrieval rates by type of defect and infant characteristics. Am J Med Genet 69:85-88.
41. Loffredo C, Ferencz C, Correa-Villaseñor A. 1991. Organic solvents and cardiovascular malformations in the Baltimore-Washington Infant Study. Teratology 43:450A.
42. Loffredo CA, Ferencz C, Correa-Villaseñor A, Wilson PD, Lurie IW. 1998. Maternal diabetes: clinical and morphogenetic perspectives on infants with cardiovascular malformations. Teratology 57:220-221.
43. Loffredo CA, Ferencz C, Rubin JD, Correa-Villaseñor A, Wilson PD. 1996. A comparative epidemiologic evaluation of risk factors for hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta. Teratology 53:93A.
44. Loffredo CA, Ferencz C, Wilson PD, Lurie IW. 2000. Interrupted aortic arch: an epidemiologic study. Teratology 61:368-375.
45. Loffredo CA, Hirata J, Wilson PD, Ferencz C, Lurie IW. 2001a. Atrioventricular septal defects: possible etiologic differences between complete and partial defects. Teratology (in press)
46. Loffredo CA, Silbergeld EK, Ferencz C, Zhang J. 2001b. Association of transposition of the great arteries in infants with maternal exposures to herbicides and rodenticides. Am J Epidemiol(in press)
47. Lynberg MC, Khoury MJ, Lammer EJ, Waller KO, Cordero JF, Erickson JD. 1990. Sensitivity, specificity, and positive predictive value of multiple malformations in isotretinoin embryopathy surveillance. Teratology 42:513-519.
48. MacKenzie SG, Lippman L. 1989. An investigation of report bias in a case-control study of pregnancy outcome. Am J Epidemiol 129:65-75.
49. Maestri NE, Beaty TH, Boughman JA. 1989. Etiologic heterogeneity in the familial aggregation of congenital cardiovascular malformations. Am J Hum Genet 45:556-564.
50. Maestri NE, Beaty TH, Liang KY, Boughman JA, Ferencz C. 1988. Assessing familial aggregation of congenital cardiovascular malformations in case-control studies. Genet Epidemiol 5:343-354.
51. Martin GR, Perry LW, Ferencz C. 1989. Increased prevalence of ventricular septal defect: epidemic or improved diagnosis? Pediatrics 83:200-203.
52. Martin ML, Adams MM, Mortensen ML. 1990. Descriptive epidemiology of selected malformations of the aorta, Atlanta, 1970-1983. Teratology 42:272-283.
53. McCarter RJ, Kessler II, Comstock GW. 1987. Is diabetes mellitus a teratogen or a coteratogen? Am J Epidemiol 125:195-205.
54. McDonald JC, Lavoie J, Cote R, McDonald AD. 1987. Chemical exposures at work in early pregnancy and congenital defect: a case-referent study. Br J Ind Med 44:527-533.
55. Miettinen OS, Reiner ML, Nadas AS. 1970. Seasonal incidence of coarctation of the aorta. Br Heart J 32:103-107.
56. Mills JL. 1982. Malformations in infants of diabetic mothers. Teratology 25:385-394.
57. Mills JL, Baker L, Goldman AS. 1979. Malformations in infants of diabetic mothers occur before the seventh gestational week: implications for treatment. Diabetes 28:292-293.
58. Mills JL, Knopp RH, Simpson JL, Jovanovic-Peterson L, Metzger BE, Holmes LB, Aarons JH, Brown Z, Reed GF, Bieber FR. et al 1988. Lack of relation of increased malformation rates in infants of diabetic mothers to glycemic control during organogenesis. N Engl J Med 318:671-676.
59. Polani PE, Campbell M. 1955. An aetiologic study of congenital heart disease Ann Hum Genet 19:209-230.
60. Pradat P. 1992. A case-control study of major congenital heart defects in Sweden, 1981-1986. Eur J Epidemiol 8:789-796.
61. Ramos-Arroyo MA, Rodriguez-Pinilla E, Cordero JF. 1992. Maternal diabetes: the risk for specific birth defects. Eur J Epidemiol 8:503-508.
62. Reece EA, Homko CJ, Wu YK. 1996. Multi-factorial basis of the syndrome of diabetic embryopathy Teratology 54:171-182.
63. Rose V, Gold RJM, Lindsay G, Allen M. 1985. A possible increase in the incidence of congenital heart defects among the offspring of affected parents. J Am Coll Cardiol 6:376-382.
64. Scanlon KS, Ferencz C, Loffredo CA, Wilson PD, Correa-Villaseñor A, Khoury MJ, Willett WC. 1998. Preconceptional folate intake and malformations of the cardiac outflow tract. Epidemiology 9:95-98.
65. Scialli AR. 1989. Who should paint the nursery? Reprod Toxicol 3:159-164.
66. Shaw GM, Malcoe LH, Katz E. 1992. Maternal workplace exposures to organic solvents and congenital cardiac anomalies. J Occup Med Toxicol 1:371-376.
67. Shaw GM, O'Malley CD, Wasserman CR, Tolarova MM, Lammer EJ. 1995. Maternal periconceptional use of multivitamins and reduced risk for conotruncal heart defects and limb deficiencies among offspring. Am J Med Genet 59:536-545.
68. Shaw GM, Swan SH, Harris JA, Malcoe LH. 1990. Maternal water consumption during pregnancy and congenital cardiac anomalies. Epidemiology 1990:206-211.
69. Shaw GM, Wasserman CR, O'Malley CD, Nelson V, Jackson RJ. 1999. Maternal pesticide exposure from multiple sources and selected congenital anomalies. Epidemiology 10:60-66.
70. Storch TG, Mannick EE. 1992. Epidemiology of congenital heart disease in Louisiana: an association between race and sex and the prevalence of specific cardiac malformations. Teratology 46:271-276.
71. Swan SH, Shaw G, Harris JA, Neutra RR. 1989. Congenital cardiac anomalies in relation to water contamination, Santa Clara County, California, 1981-1983. Am J Epidemiol 129:885-893.
72. Tikkanen J, Heinonen OP. 1988. Cardiovascular malformations and organic solvent exposure during pregnancy in Finland. Am J Ind Med 14:1-8.
73. Tikkanen J, Heinonen OP. 1991a. Maternal hyperthermia during pregnancy and cardiovascular malformation in the offspring. Eur J Epidemiol 7:628-635.
74. Tikkanen J, Heinonen OP. 1991b. Risk factors for ventricular septal defect in Finland. Public Health 105:99-112.
75. Tikkanen J, Heinonen OP. 1992a. Risk factors for conal malformations of the heart. Eur J Epidemiol 8:48-57.
76. Tikkanen J, Heinonen OP. 1992b. Risk factors for atrial septal defect. Eur J Epidemiol 8:509-515.
77. Tikkanen J, Heinonen OP. 1993. Risk factors for coarctation of the aorta Teratology 47:565-572.
78. Torfs CP, Curry CJ, Harris JA. 1991. The descriptive epidemiology of hypoplastic left heart, coarctation of the aorta, and aortic stenosis. Teratology 43:448-449.
79. Wasserman CR, Shaw GM, O'Malley CD, Tolarova MM, Lammer EJ. 1996. Parental cigarette smoking and risk for congenital anomalies of the heart, neural tube, or limb. Teratology 53:261-267.
80. Whittemore R, Wells JA, Castellsague X. 1994. A second-generation study of 427 probands with congenital heart defects and their 837 children. J Am Coll Cardiol 23:1459-1467.
81. Wilson PD, Correa-Villaseñor A, Loffredo CA, Ferencz C. 1993. Temporal trends in prevalence of cardiovascular malformations in Maryland and the District of Columbia, 1981-1988. Epidemiology 4:259-265.
82. Wilson PD, Loffredo CA, Correa-Villaseñor A, Ferencz C. 1998. Attributable fraction for cardiac malformations. Am J Epidemiol 148:414-423.
83. Zavala C, Jimenez D, Rubio R, Castillo-Sosa ML, Diaz-Arauzo A, Salamanca F. 1992. Isolated congenital heart defects in first degree relatives of 185 affected children: prospective study in Mexico City. Arch Med Res 23:177-182.
84. Zierler S, Rothman KJ. 1985. Congenital heart disease in relation to maternal use of Bendectin and other drugs in early pregnancy. N Engl J Med 313:347-352.