Genetic Factors

For additional literature about genetic factors from the last 5 years, click here.

  • Ardinger RH Jr. Genetic counseling in congenital heart disease. Pediatric Annals. 26(2):99-104, 1997 Feb.
  • Becker TA. Van Amber R. Moller JH. Pierpont ME. Occurrence of cardiac malformations in relatives of children with transposition of the great arteries. American Journal of Medical Genetics. 66(1):28-32, 1996 Dec 2.
  • Belmont JW. Recent progress in the molecular genetics of congenital heart defects. Clinical Genetics. 54(1):11-9, 1998 Jul.
  • Burn J. Brennan P. Little J. Holloway S. et al.. Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet. 351(9099):311-6, 1998 Jan 31.
  • Dietz, H.Pyeritz, RE. Molecular biology – to the heart of the matter. New England Journal of Medicine. 330(13):930-932,. 1994 Mar.
  • Digilio MC. Casey B. Toscano A. Calabro R. Pacileo G. Marasini M. Banaudi E. Giannotti A. Dallapiccola B. Marino B. Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence. Circulation. 104(23):2809-14, 2001 Dec 4.
  • English D. Do platelet-related phospholipids play a role in cardiovscular malformations and heritable coagulopathies? (Letter) Teratology 63:102-104, 2000.
  • Faivre L. Vekemans M. Risk factors for heart defects in Down syndrome. Teratology. 59(3):132, 1999 Mar.
  • Ferencz C. Cardiovascular malformations: epidemiologic study presages endothelial cell origin.[see comment]. Teratology. 62(5):285-7, 2000 Nov.
  • Ferencz C. Coagulation affects vasculogenesis and angiogenesis: does it affect the development of the heart? Journal of Hematotherapy & Stem Cell Research. 11(4):739-45, 2002 Aug.
  • Ferencz C. Boughman JA. Neill CA. et.al. Congenital cardiovascular malformations: questions on inheritance. Baltimore-Washington Infant Study Group. Journal of the American College of Cardiology. 14(3):756-63, 1989 Sep
  • Ferencz C. Rubin JD. McCarter RJ. Wilson PD. Boughman JA. Brenner JI. Neill CA. Perry LW. Hepner SI. Downing JW. Association of hereditary blood disorders and congenital heart disease (Letter). Teratology 29:313, 1984.
  • Ferencz C. Rubin JD. McCarter RJ. Wilson PD. Boughman JA. Brenner JI. Neill CA. Perry LW. Hepner SI. Downing JW. Hematologic disorders and congenital cardiovascular malformations: converging lines of research. Journal of Medicine. 15(5-6):337-54, 1984.
  • Forrester S. Kovach MJ. Smith RE. Rimer L. Wesson M. Kimonis VE. Kousseff syndrome caused by deletion of chromosome 22q11-13. American Journal of Medical Genetics. 112(4):338-42, 2002 Nov 1.
  • Gelb BD. Recent advances in the understanding of genetic causes of congenital heart defects. Frontiers in Bioscience. 5:D321-33, 2000 Mar 1.
  • Goldmuntz E. The epidemiology and genetics of congenital heart disease. Clinics in Perinatology. 28(1):1-10, 2001 Mar.
  • Hajdu J. Marton T. Toth-Pal E. Papp Z. Familial association of congenital left heart abnormalities and sustained fetal arrhythmia. Pediatric Cardiology. 20(5):368-70, 1999 Sep-Oct.
  • Hoess K. Goldmuntz E. Pyeritz RE. Genetic counseling for congenital heart disease: new approaches for a new decade. Current Cardiology Reports. 4(1):68-75, 2002 Jan.
  • Khoury, M. Burke, W. and Thomson, E.J. (eds) Genetics and Public Health in the 21st Century. Using Genetic Information to Improve Health and Prevent Disease. Oxford University Press, 2000.
  • Lurie, IW. Glossary of Malformation Syndromes. In Ferencz,C Loffredo,CA, Correa-Villasenor, Wilson,PD. Genetic and Environmental Risk Factors of Major Cardiovascular Malformations, The Baltimore-Washington Infant Study, (1981-1989), Perspectives in Pediatric Cardiology, vol.5. Armonk, N.Y: Futura Publishing Co.Inc, 1997; pp. 396-403.
  • McElhinney DB. McDonald-McGinn D. Zackai EH. Goldmuntz E. Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age. Pediatrics. 108(6):E104, 2001 Dec.
  • Romano-Zelekha O. Hirsh R. Blieden L. Green M. Shohat T. The risk for congenital heart defects in offspring of individuals with congenital heart defects. Clinical Genetics. 59(5):325-9, 2001 May.
  • Schott JJ. Benson DW. Basson CT. et.al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science. 281(5373):108-11, 1998 Jul 3.
  • Schunkert H. Brockel U. Kromer EP. Elsner D. Jacob HJ. Riegger GA. A large pedigree with valvuloseptal defects. American Journal of Cardiology. 80(7):968-70, 1997 Oct 1.
  • Thurmon TF. Evaluation of relatives for congenital heart defects. Journal of the Louisiana State Medical Society. 148(1):31-7, 1996 Jan.
  • Welch KK. Brown SA. The role of genetic counseling in the management of prenatally detected congenital heart defects. Seminars in Perinatology. 24(5):373-9, 2000 Oct.

Infections and Maternal Disorders

For additional literature about infections and maternal disorders from the last 5 years, click here.

  • Boneva RS. Moore CA. Botto L. Wong LY. Erickson JD. Nausea during pregnancy and congenital heart defects: a population-based case-control study. American Journal of Epidemiology. 49(8):717-25, 1999 Apr 15.
  • Botto LD. Lynberg MC. Erickson JD. Congenital heart defects, maternal febrile illness, and multivitamin use: a population-based study. Epidemiology. 12(5):485-90, 2001 Sep.
  • Cedergren MI. Kallen BA. Maternal obesity and infant heart defects. Obesity Research. 11(9):1065-71, 2003 Sep.
  • Gregg NMC. Congenital cataract following German measles in the mother. Trans Opthalmol Soc Aust 3:35-46, 1941
  • Hameed A, Karaalp IS, Tummala PP, et al.The effect of valvular heart disease on maternal and fetal outcome of pregnancy. Journal of the American College of Cardiology. 37 (3): 893-899, 2001 Mar 1.
  • Kapusta L. Haagmans ML. Steegers EA. Cuypers MH. Blom HJ. Eskes TK. Congenital heart defects and maternal derangement of homocysteine metabolism. Journal of Pediatrics. 135(6):773-4, 1999 Dec.
  • Levy HL, et al. Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study. Pediatric Research. 49(5): 632-642, 2001 May.
  • Loffredo CA. Wilson PD. Ferencz C. Maternal diabetes: an independent risk factor for major cardiovascular malformations with increased mortality of affected infants. Teratology. 64(2):98-106, 2001.
  • Loffredo CA. Hirata J. Wilson PD. Ferencz C. Lurie IW. Atrioventricular septal defects: possible etiologic differences between complete and partial defects. Teratology 63(2):87-93, 2001 Feb
  • Manderson JG. Mullan B. Patterson CC. Hadden DR. Traub AI. McCance DR. Cardiovascular and metabolic abnormalities in the offspring of diabetic pregnancy. Diabetologia. 45(7):991-6, 2002 Jul.
  • Martinez-Frias ML. Heterotaxia as an outcome of maternal diabetes: an epidemiological study. American Journal of Medical Genetics. 99(2): 142-146, 2001 Mar 1.
  • Meyer-Wittkopf M. Simpson JM. Sharland GK. Incidence of congenital heart defects in fetuses of diabetic mothers: a retrospective study of 326 cases. Ultrasound in Obstetrics & Gynecology. 8(1):8-10, 1996 Jul.
  • Pass, KA. Lessons learned from newborn screening for phenylketonuria. In: Khoury M, Burke W and Thomson EJ (eds). Genetics and Public Health in the 21st Century. Using Genetic Information to Improve Health and Prevent Disease. Oxford University Press, 2000.
  • Reece EA. Eriksson UJ. The pathogenesis of diabetes-associated congenital malformations. Obstetrics & Gynecology Clinics of North America. 23(1):29-45, 1996 Mar.
  • Reece EA. Leguizamon G. Homko C. Stringent controls in diabetic nephropathy associated with optimization of pregnancy outcomes. Journal of Maternal-Fetal Medicine. 7(4):213-6, 1998 Jul-Aug.
  • Rose V. Hewitt D. Milner J. Seasonal influences on the risk of cardiac malformation. Nature of the problem and some results from a study of 10,077 cases. International Journal of Epidemiology. 1(3):235-44, 1972 Autumn.
  • Rouse B. Matalon R. Koch R. et.al. Maternal phenylketonuria syndrome: congenital heart defects, microcephaly, and developmental outcomes. Journal of Pediatrics. 136(1):57-61, 2000 Jan.
  • Rowe RD. Cardiovascular disease in the rubella syndrome. In: Keith JD, Rowe RD, Vlad P (eds). Heart Disease in Infancy and Childhood, 3rd ed. MacMillan Publishing, 1978.
  • Shillingford AJ. Weiner S. Maternal issues affecting the fetus. Clinics in Perinatology. 28(1):31-70, vi, 2001 Mar.
  • Strobino B. Abid S. Gewitz M. Maternal Lyme disease and congenital heart disease: A case-control study in an endemic area. American Journal of Obstetrics & Gynecology. 180(3 Pt 1):711-6, 1999 Mar.
  • Torfs CP. Christianson RE. Maternal risk factors and major associated defects in infants with Down syndrome. Epidemiology. 10(3):264-70, 1999 May.
  • Watkins ML. Botto LD. Maternal prepregnancy weight and congenital heart defects in offspring.[erratum appears in Epidemiology 2001 Sep;12(5):517]. Epidemiology. 12(4):439-46, 2001 Jul.

Therapeutic Drugs

For additional literature about therapeutic drugs from the last 5 years, click here.

  • Botto LD. Lynberg MC. Erickson JD. Congenital heart defects, maternal febrile illness, and multivitamin use: a population-based study. Epidemiology. 12(5):485-90, 2001 Sep.
  • Botto LD. Mulinare J. Erickson JD. Occurrence of congenital heart defects in relation to maternal mulitivitamin use. American Journal of Epidemiology. 151(9):878-84, 2000 May 1.
  • Kozer E, et al. Aspirin consumption during the first trimester of pregnancy and congenital anomalies: a meta-analysis. American Journal of Obstetrics & Gynecology. 187(6): 1623-1630, 2002 Dec.
  • Mone SM. Gillman MW. Miller TL. et. al. Effects of environmental exposures on the cardiovascular system: prenatal period through adolescence. Pediatrics. 113(4 Suppl):1058-69, 2004 Apr.
  • Rubin JD. Ferencz C. Loffredo C. Use of prescription and non-prescription drugs in pregnancy. The Baltimore-Washington Infant Study Group. Journal of Clinical Epidemiology. 46(6):581-9, 1993 Jun.
  • Scanlon KS. Ferencz C. Loffredo CA. et.al.. Preconceptional folate intake and malformations of the cardiac outflow tract. Baltimore-Washington Infant Study Group. Epidemiology. 9(1):95-8, 1998 Jan.
  • Schardein, James L. Chemically induced birth defects. 3rd ed. New York : Marcel Dekker, c2000.
  • Shepard TH.and Lemire RJ. Catalog of teratogenic agents. 12th ed. Baltimore, MD: Johns Hopkins University Press, 2007.

Toxic Exposures

For additional literature about toxic exposure from the last 5 years, click here.

  • Aronson KJ. Dodds LA. Marrett L. Wall C. Congenital anomalies among the offspring of fire fighters. American Journal of Industrial Medicine. 30(1):83-6, 1996 Jul.
  • Cedergren MI. Selbing AJ. Kallen BA. Risk factors for cardiovascular malformation–a study based on prospectively collected data. Scandinavian Journal of Work, Environment & Health. 28(1):12-7, 2002 Feb.
  • Cedergren MI, et al. Chlorination byproducts and nitrate in drinking water and risk for congential cardiac defects. Environmental Research. 89(2): 124-130, 2002 Jun.
  • Croen LA. Shaw GM. Sanbonmatsu L. Selvin S. Buffler PA. Maternal residential proximity to hazardous waste sites and risk for selected congenital malformations. Epidemiology. 8(4):347-54, 1997 Jul.
  • Ewing CK. Loffredo CA. Beaty TH. Paternal risk factors for isolated membranous ventricular septal defects. American Journal of Medical Genetics. 71(1):42-6, 1997 Jul 11.
  • Kallen K. Maternal smoking and congenital heart defects. European Journal of Epidemiology. 15(8):731-7, 1999 Sep.
  • Loffredo, CH. (1996) The interaction of prenatal solvent exposures with genetic polymorphisms in solvent-metabolizing enzymes: evaluation of risk among infants with congenital heart defects. (Doctoral dissertation, University of Maryland).
  • Loffredo CA. Silbergeld EK. Ferencz C. Zhang J. Association of transposition of the great arteries in infants with maternal exposures to herbicides and rodenticides. American Journal of Epidemiology. 153(6):529-36, 2001 Mar 15.
  • Mone SM. Gillman MW. Miller TL. et. al. Effects of environmental exposures on the cardiovascular system: prenatal period through adolescence. Pediatrics. 113(4 Suppl):1058-69, 2004 Apr.
  • Schardein, James L. Chemically induced birth defects. 3rd ed. New York : Marcel Dekker, 2000.
  • Shepard TH.and Lemire RJ. Catalog of teratogenic agents. 12th ed. Baltimore, MD: Johns Hopkins University Press, 2007.
  • Smrcka V. Leznarova D. Environmental pollution and the occurrence of congenital defects in a 15-year period in a south Moravian district. Acta Chirurgiae Plasticae. 40(4):112-4, 1998.