Recurrence of discordant congenital heart defects in families

Circulation: Cardiovascular Genetics

Volumn 3, Issue 2, 2010, Pages 122-128

  Øyen, Nina ^a,b,c   Poulsen, Gry ^a   Wohlfahrt, Jan ^a   Boyd, Heather A ^a   Jensen, Peter K A ^c   Melbye, Mads ^a  

^a STATENS SERUM INSTITUT   (Denmark)

^b UNIVERSITY OF BERGEN   (Norway)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Congenital; Epidemiology; Genetics; Heart defects; Heart septal defects; Population

Indexed keywords

ARTICLE; COHORT ANALYSIS; CONGENITAL HEART MALFORMATION; GENETIC RISK; HEART ATRIUM SEPTUM DEFECT; HEART LEFT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HEART RIGHT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; LUNG VEIN DRAINAGE ANOMALY; MAJOR CLINICAL STUDY; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRIORITY JOURNAL; RECURRENT DISEASE; RELATIVE;

CLUSTER ANALYSIS; COHORT STUDIES; FAMILY; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; MALE; PHENOTYPE; RECURRENCE; RISK FACTORS;

EID: 77953660038     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.109.890103     Document Type: Article

References (40)

1. Øyen N, Poulsen G, Boyd HA, Wohlfahrt J, Jensen PKA, Melbye M. Recurrence of congenital heart defects in families. Circulation. 2009;120: 295-301.
2. Kirby ML. Cardiac Development. Oxford, UK: Oxford University Press; 2007.
3. Pierpont ME, Basson CT, Benson DW, Gelb BD, Giglia TM, Goldmuntz E, McGee G, Sable CA, Srivastava D, Webb CL. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation. 2007;115:3015-3038.
4. Zetterqvist P. Accumulation of different congenital heart defects in one pedigree. Clin Genet. 1971;2:123-127.
5. Fraser FC, Hunter ADW. Etiologic relations among categories of congenital heart malformations. Am J Cardiol. 1975;36:793-796.
6. Zetterqvist P. Recurrence risk in CHD. Circulation. 1977;55:555-556.
7. 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;51:942-945.
8. Burn J, Brennan P, Little J, Holloway S, Coffey R, Somerville J, Dennis NR, Allan L, Arnold R, Deanfield JE. Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet. 1998;351:311-316.
9. Calcagni G, Digilio MC, Sarkozy A, Dallapiccola B, Marino B. Familial recurrence of congenital heart disease: an overview and review of the literature. Eur J Pediatr. 2007;166:111-116.
10. Ferencz C, Loffredo CA, Correa-Villasenor A, Wilson PD. Genetic and environmental Risk Factors in Major Cardiovascular Malformations. The Baltimore-Washington Infant Study 1981-1989. Armonk, NY: Futura Publishing Company, Inc; 1998.
11. Pradat P. Recurrence risk for major congenital heart defects in Sweden: a registry study. Genet Epidemiol. 1994;11:131-140.
12. Burn J, Goodship J. Congenital heart disease. In: Rimoin DJ, Connor JM, Pyeritz RE, Korf BR, eds. Emery and Rimoin's Principles and Practice of Medical Genetics. 4th ed. London, UK: Churchill Livingstone; 2002: 1239-1326.
13. Westergaard T. Birth order and cancer risk [Thesis]. Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark; 1997.
14. Schnack TH, Zdravkovic S, Myrup C, Westergaard T, Christensen K, Wohlfahrt J, Melbye M. Familial aggregation of hypospadias-a nation-wide cohort study. Am J Epidemiol. 2008;167:251-256.
15. Andersen EW, Andersen PK. Adjustment for misclassification in studies of familial aggregation of disease using routine register data. Stat Med. 2002;21:3595-3607.
16. Botto LD, Lin AE, Riehle-Colarusso T, Malik S, Correa A; The National Birth Defects Prevention Study. Seeking causes: classifying and evaluating congenital heart defects in etiologic studies. Birth Defects Res A Clin Mol Teratol. 2007;79:714-727.
17. Øyen N, Poulsen G, Boyd HA, Wohlfahrt J, Jensen PKA, Melbye M. National time trends in congenital heart defects, Denmark, 1977-2005. Am Heart J. 2009;157:467-473.
18. Dennis NR, Warren J. Risks to the offspring of patients with some common congenital heart defects. J Med Genet. 1981;18:8-16.
19. Ferencz C. Congenital cardiovascular malformations: questions on inheritance. Baltimore-Washington Infant Study Group. J Am Coll Cardiol. 1989;14:756-763.
20. Gill HK, Splitt M, Sharland GK, Simpson JM. Patterns of recurrence of congenital heart disease. An analysis of 6,640 consecutive pregnancies. J Am Coll Cardiol. 2003;42:923-929.
21. Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet. 1997;16: 243-251.
22. Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE. Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet. 1997;15: 30-35.
23. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet. 2001; 29:465-468.
24. Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JPL, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet. 2007;39:75-79.
25. Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KYJ, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006;38:331-336.
26. Vissers LELM, van Ravenswaaij CMA, Admiraal R, Hurst JA, de Vries BBA, Janssen IM, van der Vliet WA, Huys EHLP, de Jong PJ, Hamel BCJ, Schoenmakers EFPM, Brunner HG, Veltman JA, van Kessel AG. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004;36:955-957.
27. Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H, Oki H, Nanao K, Moriyama N, Oku S, Hasegawa T, Takahashi T, Fukushima Y, Kawame H, Kosaki K. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr. 2006;148:410-414.
28. Gardner RJM, Sutherland GR. Chromosomal Abnormalities and Genetic Counseling. 4th ed. New York, NY: Oxford University Press; 2004.
29. Tomita-Mitchell A, Maslen CL, Morris CD, Garg V, Goldmuntz E. GATA4 sequence variants in patients with congenital heart diseases. J Med Genet. 2007;44:779-783.
30. Posch MG, Perrot A, Scmitt K, Mittelhaus S, Esenwein E-M, Stiller B, Geier C, Dietz R, Gessner R,Özcelik C, Berger F. Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. Am J Med Genet. 2008;146A:251-253.
31. McBride KL, Zender GA, Fitzgerald-Butt SM, Koehler D, Menesses-Diaz A, Fernbach S, Lee K, Towbin JA, Leal S, Belmont JW. Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome). Eur J Hum Genet. 2009;17:811-819.
32. Guo SW. Familial aggregation of environmental risk factors and familial aggregation of disease. Am J Epidemiol. 2000;151:1121-1131.
33. Jenkins KJ, Correa A, Feinstein JA, Botto LD, Britt AE, Daniels SR, Elixson M, Warnes CA, Webb CL. Non-inherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation. 2007;115:2995-3014.
34. Stoll C, Alembik Y, Dott B, Roth MP. Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies. Ann Genet. 2002;45:115-121.
35. EUROCAT 1980-2007: Prevalence data tables. [UK EUROCAT Central Registry]. http://www.eurocat.ulster.ac.uk. Accessed June 22, 2009.
36. Madsen M, Davidsen M, Rasmussen S, Abildstrom SZ, Osler M. The validity of the diagnosis of acute myocardial infarction in routine statistics: a comparison of mortality and hospital discharge data with the Danish MONICA registry. J Clin Epidemiol. 2003;56:124-130.
37. Eskedal L, Hagemo P, Eskild A, Aamodt G, Seiler KS, Thaulow E. A population-based study of extra-cardiac anomalies in children with congenital cardiac malformations. Cardiol Young. 2004;14:600-607.
38. EUROCAT 1980-2005: Prevalence data tables. [UK EUROCAT Central Registry]. http://www.eurocat.ulster.ac.uk. Accessed March 31, 2009.
39. Frank L. Epidemiology. When an entire country is a cohort. Science. 2000;287:2398-2399.
40. International Clearinghouse for Birth Defects. Surveillance and research [ICBDSR CENTRE, International Centre on Birth Defects, Rome, Italy]. http://www.icbdsr.org. Accessed June 23, 2008.