REVIEW ARTICLE
The incidence of congenital heart disease
Julien I. E. Hoffman, MD, FACC*,* and
Samuel Kaplan, MD, FACC
* Department of Pediatrics and the Cardiovascular Research Institute, University of California, San Francisco, California, USA
Ahmanson/UCLA Adult Congenital Heart Disease Center, Departments of Medicine, Pediatrics and Surgery, UCLA School of Medicine, Los Angeles, California, USASupported in part by Program Project Grant HL 25847 from the National Heart, Lung and Blood Institute.
Manuscript received September 26, 2001;
revised manuscript received March 4, 2002,
accepted March 27, 2002.
* Reprint requests and correspondence: Dr. Julien I. E. Hoffman, Box 0544, Room M1331, University of California, 505 Parnassus Avenue, San Francisco, California 94143. jhoffman{at}pedcard.ucsf.edu
This study was designed to determine the reasons for the variability of the incidence of congenital heart disease (CHD), estimate its true value and provide data about the incidence of specific major forms of CHD. The incidence of CHD in different studies varies from about 4/1,000 to 50/1,000 live births. The relative frequency of different major forms of CHD also differs greatly from study to study. In addition, another 20/1,000 live births have bicuspid aortic valves, isolated anomalous lobar pulmonary veins or a silent patent ductus arteriosus. The incidences reported in 62 studies published after 1955 were examined. Attention was paid to the ways in which the studies were conducted, with special reference to the increased use of echocardiography in the neonatal nursery. The total incidence of CHD was related to the relative frequency of ventricular septal defects (VSDs), the most common type of CHD. The incidences of individual major forms of CHD were determined from 44 studies. The incidence of CHD depends primarily on the number of small VSDs included in the series, and this number in turn depends upon how early the diagnosis is made. If major forms of CHD are stratified into trivial, moderate and severe categories, the variation in incidence depends mainly on the number of trivial lesions included. The incidence of moderate and severe forms of CHD is about 6/1,000 live births (19/1,000 live births if the potentially serious bicuspid aortic valve is included), and of all forms increases to 75/1,000 live births if tiny muscular VSDs present at birth and other trivial lesions are included. Given the causes of variation, there is no evidence for differences in incidence in different countries or times.
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Abbreviations and Acronyms
| | AS | | aortic stenosis | | ASD | | atrial septal defect | | AVSD | | atrioventricular septal defect | | BAV | | bicuspid aortic valve | | CHD | | congenital heart disease | | Coarc | | coarctation of the aorta | | DORV | | double outlet right ventricle | | NERICP | | New England Regional Infant Cardiac Program | | PDA | | patent ductus arteriosus | | PS | | pulmonic stenosis | | SV | | single ventricle | | VSD | | ventricular septal defect |
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M. Wagner and M. A. Q. Siddiqui
Signal Transduction in Early Heart Development (II): Ventricular Chamber Specification, Trabeculation, and Heart Valve Formation
Experimental Biology and Medicine,
July 1, 2007;
232(7):
866 - 880.
[Abstract]
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K. Niessen and A. Karsan
Notch signaling in the developing cardiovascular system
Am J Physiol Cell Physiol,
July 1, 2007;
293(1):
C1 - C11.
[Abstract]
[Full Text]
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M. E. Pierpont, C. T. Basson, D. W. Benson Jr, B. D. Gelb, T. M. Giglia, E. Goldmuntz, G. McGee, C. A. Sable, D. Srivastava, and C. L. Webb
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,
June 12, 2007;
115(23):
3015 - 3038.
[Abstract]
[Full Text]
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S. M. Fernandes, P. Khairy, S. P. Sanders, and S. D. Colan
Bicuspid Aortic Valve Morphology and Interventions in the Young
J. Am. Coll. Cardiol.,
June 5, 2007;
49(22):
2211 - 2214.
[Abstract]
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P. A. Karsdorp, W. Everaerd, M. Kindt, and B. J.M. Mulder
Psychological and Cognitive Functioning in Children and Adolescents with Congenital Heart Disease: A Meta-Analysis
J. Pediatr. Psychol.,
June 1, 2007;
32(5):
527 - 541.
[Abstract]
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J. Fedder, A. Gabrielsen, P. Humaidan, K. Erb, E. Ernst, and A. Loft
Malformation rate and sex ratio in 412 children conceived with epididymal or testicular sperm
Hum. Reprod.,
April 1, 2007;
22(4):
1080 - 1085.
[Abstract]
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A. Fischer, C. Steidl, T. U. Wagner, E. Lang, P. M. Jakob, P. Friedl, K.-P. Knobeloch, and M. Gessler
Combined Loss of Hey1 and HeyL Causes Congenital Heart Defects Because of Impaired Epithelial to Mesenchymal Transition
Circ. Res.,
March 30, 2007;
100(6):
856 - 863.
[Abstract]
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S. Goland, L. S.C. Czer, M. A. De Robertis, J. Mirocha, R. M. Kass, G. P. Fontana, W. Chang, and A. Trento
Risk Factors Associated With Reoperation and Mortality in 252 Patients After Aortic Valve Replacement for Congenitally Bicuspid Aortic Valve Disease
Ann. Thorac. Surg.,
March 1, 2007;
83(3):
931 - 937.
[Abstract]
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K. E. Yutzey and J. Robbins
Principles of Genetic Murine Models for Cardiac Disease
Circulation,
February 13, 2007;
115(6):
792 - 799.
[Abstract]
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P. Khairy, N. Poirier, and L.-A. Mercier
Univentricular Heart
Circulation,
February 13, 2007;
115(6):
800 - 812.
[Abstract]
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W. Rosamond, K. Flegal, G. Friday, K. Furie, A. Go, K. Greenlund, N. Haase, M. Ho, V. Howard, B. Kissela, et al.
Heart Disease and Stroke Statistics--2007 Update: A Report From the American Heart Association Statistics Committee and Stroke Statistics Subcommittee
Circulation,
February 6, 2007;
115(5):
e69 - e171.
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P. S. McQuillen, A. J. Barkovich, S. E.G. Hamrick, M. Perez, P. Ward, D. V. Glidden, A. Azakie, T. Karl, and S. P. Miller
Temporal and Anatomic Risk Profile of Brain Injury With Neonatal Repair of Congenital Heart Defects
Stroke,
February 1, 2007;
38(2):
736 - 741.
[Abstract]
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A. J. Marelli, A. S. Mackie, R. Ionescu-Ittu, E. Rahme, and L. Pilote
Congenital Heart Disease in the General Population: Changing Prevalence and Age Distribution
Circulation,
January 16, 2007;
115(2):
163 - 172.
[Abstract]
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K. Jiao, M. Langworthy, L. Batts, C. B. Brown, H. L. Moses, and H. S. Baldwin
Tgf{beta} signaling is required for atrioventricular cushion mesenchyme remodeling during in vivo cardiac development
Development,
November 15, 2006;
133(22):
4585 - 4593.
[Abstract]
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M. S. Minette and D. J. Sahn
Ventricular Septal Defects
Circulation,
November 14, 2006;
114(20):
2190 - 2197.
[Abstract]
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D. J. Schneider and J. W. Moore
Patent Ductus Arteriosus
Circulation,
October 24, 2006;
114(17):
1873 - 1882.
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M. R. Liske, C. S. Greeley, D. J. Law, J. D. Reich, W. R. Morrow, H. S. Baldwin, T. P. Graham, A. W. Strauss, A. L. Kavanaugh-McHugh, and W. F. Walsh
Report of the Tennessee Task Force on Screening Newborn Infants for Critical Congenital Heart Disease
Pediatrics,
October 1, 2006;
118(4):
e1250 - e1256.
[Abstract]
[Full Text]
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A. T. Soufan, G. van den Berg, J. M. Ruijter, P. A.J. de Boer, M. J.B. van den Hoff, and A. F.M. Moorman
Regionalized Sequence of Myocardial Cell Growth and Proliferation Characterizes Early Chamber Formation
Circ. Res.,
September 1, 2006;
99(5):
545 - 552.
[Abstract]
[Full Text]
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M. A. Padula and A. M. Ades
Neurodevelopmental Implications of Congenital Heart Disease
NeoReviews,
July 1, 2006;
7(7):
e363 - e369.
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D. Li and R. Rozen
Maternal Folate Deficiency Affects Proliferation, but Not Apoptosis, in Embryonic Mouse Heart
J. Nutr.,
July 1, 2006;
136(7):
1774 - 1778.
[Abstract]
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V. M. Christoffels, M. T.M. Mommersteeg, M.-O. Trowe, O. W.J. Prall, C. de Gier-de Vries, A. T. Soufan, M. Bussen, K. Schuster-Gossler, R. P. Harvey, A. F.M. Moorman, et al.
Formation of the Venous Pole of the Heart From an Nkx2-5-Negative Precursor Population Requires Tbx18
Circ. Res.,
June 23, 2006;
98(12):
1555 - 1563.
[Abstract]
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R. B. Hinton Jr, J. Lincoln, G. H. Deutsch, H. Osinska, P. B. Manning, D. W. Benson, and K. E. Yutzey
Extracellular Matrix Remodeling and Organization in Developing and Diseased Aortic Valves
Circ. Res.,
June 9, 2006;
98(11):
1431 - 1438.
[Abstract]
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P. Khairy, M. J. Landzberg, M. A. Gatzoulis, L.-A. Mercier, S. M. Fernandes, J.-M. Cote, J.-P. Lavoie, A. Fournier, P. G. Guerra, A. Frogoudaki, et al.
Transvenous Pacing Leads and Systemic Thromboemboli in Patients With Intracardiac Shunts: A Multicenter Study
Circulation,
May 23, 2006;
113(20):
2391 - 2397.
[Abstract]
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I. M. van Beynum, L. Kapusta, M. den Heijer, S. H.H.M. Vermeulen, M. Kouwenberg, O. Daniels, and H. J. Blom
Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification by periconceptional folate supplementation
Eur. Heart J.,
April 2, 2006;
27(8):
981 - 987.
[Abstract]
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E. P. Kirk, C. Hyun, P. C. Thomson, D. Lai, M. L. Castro, C. Biben, M. F. Buckley, I. C.A. Martin, C. Moran, and R. P. Harvey
Quantitative Trait Loci Modifying Cardiac Atrial Septal Morphology and Risk of Patent Foramen Ovale in the Mouse
Circ. Res.,
March 17, 2006;
98(5):
651 - 658.
[Abstract]
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F. Bajolle, S. Zaffran, R. G. Kelly, J. Hadchouel, D. Bonnet, N. A. Brown, and M. E. Buckingham
Rotation of the Myocardial Wall of the Outflow Tract Is Implicated in the Normal Positioning of the Great Arteries
Circ. Res.,
February 17, 2006;
98(3):
421 - 428.
[Abstract]
[Full Text]
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T. Thom, N. Haase, W. Rosamond, V. J. Howard, J. Rumsfeld, T. Manolio, Z.-J. Zheng, K. Flegal, C. O'Donnell, S. Kittner, et al.
Heart Disease and Stroke Statistics--2006 Update: A Report From the American Heart Association Statistics Committee and Stroke Statistics Subcommittee
Circulation,
February 14, 2006;
113(6):
e85 - e151.
[Full Text]
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Improved National Prevalence Estimates for 18 Selected Major Birth Defects--United States, 1999-2001
JAMA,
February 8, 2006;
295(6):
618 - 620.
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J. M. Smrcek, C. Berg, A. Geipel, R. Fimmers, K. Diedrich, and U. Gembruch
Early Fetal Echocardiography: Heart Biometry and Visualization of Cardiac Structures Between 10 and 15 Weeks' Gestation
J. Ultrasound Med.,
February 1, 2006;
25(2):
173 - 182.
[Abstract]
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