Congenital heart defects through 30 years


Aim: To assess basic trends in epidemiology of congenital heart defects (CHDs). Method: Population based prospective observational study. Material: CHDs in infants born alive in a Norwegian county 1982-2011. Results: In 828/71 217 infants (12 per 1000) a CHD was diagnosed. The prevalence increased from 8 to 12 per 1000 after introduction of early echocardiography in newborns with suspected CHD from 1986 (p = 0.0001). Ventricular septal defect (VSD) was the dominating CHD (474; 57%). In 222 (27%) the CHDs were missed and diagnosed after discharge from hospital after birth. Twelve critical CHDs (causing death or requiring invasive procedures before 28 days of life) were missed. Prenatal diagnosis of critical CHDs increased from 4/67 (6%) born 1997-2006 to 4/11 (36%) born 2007-2011 (p = 0.01). In 177 (21%) a syndrome or extracardial defect occurred. The occurrence of CHDs associated with chromosomal disorders (60/73 (82%) trisomies) more than doubled from the cohort born in the first 10-year period 1982-1991 (0.6 per 1000) to the last 2002-2011 (1.4 per 1000) (p < 0.0001) in parallel with increasing births in women ≥ 35 years old in the population. 237 (29%) underwent therapeutic procedures (203 (86%) surgery, of whom 16 after initial catheter intervention, and 34 (14%) catheter intervention alone). 39/237 (16%) died, 101 (43%) were repaired and 97 (41%) had some minor residual defect. The death rate declined significantly from 65/532 (12%) born 1982-2001 to 11/296 (4%) born 2002-2011 (p = 0.0001). 37/76 (49%) deaths occurred within 28 days after birth. Conclusions: The rate of detection of CHDs increased substantially after introduction of echocardiography in newborns with suspected CHD, especially VSDs. Some critical CHDs were overlooked. The prenatal detection rate of such defects increased. The prevalence of CHDs with associated chromosomal disorders increased in parallel with increasing maternal age in the population. Most deaths occurred during the neonatal period. Increasing survival increases the load on long-term follow-up programmes.

Share and Cite:

Meberg, A. (2012) Congenital heart defects through 30 years. Open Journal of Pediatrics, 2, 219-227. doi: 10.4236/ojped.2012.23035.

Conflicts of Interest

The authors declare no conflicts of interest.


[1] Rice, M.J., McDonald, R.W., Reller, M.D. and Sahn, D.J. (1996) Pediatric echocardiography: Current role and a review of technical advances. The Journal of Pediatrics, 128, 1-14. doi:10.1016/S0022-3476(96)70421-3
[2] Morris, C.D. and Menashe, V.D. (1991) 25-year mortality after surgical repair of congenital heart defect in childhood: A population-based cohort study. JAMA: The Journal of the American Mediacal Association, 266, 3447-3452. doi:10.1001/jama.1991.03470240069035
[3] Somerville, J. (1990) “Grown-up” survivors of congenital heart disease: Who knows? Who cares? British Journal of Hospital Medicine, 43, 132-136.
[4] Meberg, A., Otterstad, J.E., Froland, G., Sorland, S. and Nitter-Hauge, S. (1994) Increasing incidence of ventricular septal defects caused by improved detection rate. Acta Paediatrica, 83, 653-657. doi:10.1111/j.1651-2227.1994.tb13102.x
[5] Dickinson, D.F. (1998) Ventricular septal defect: (not) another epidemic? Cardiology in the Young, 8, 423-424. doi:10.1017/S1047951100007046
[6] International Society of Cardiology (1970) Classification of Heart Disease in Childhood. VBR Offsetdrukkerij, Groningen.
[7] Fyler, D.C., Buckley, L.P., Hellenbrand, W.E., Cohn, H.E., Kirklin, J.W., Nadas, A.S., et al. (1980) Report of the New England Regional Infant Cardiac Program. Pediatrics, 65, 377-461.
[8] Archer, N. (2005) Cardiovascular disease. In: Rennie, J.M. Ed., Roberton’s Textbook of Neonatology, 4th Edition. Elsevier Churchill Livingstone, Philadelphia, 619-660.
[9] Bernstein, D. (2011) Epidemiology and genetic basis of congenital heart disease. In: Kliegman, R.M., Stanton, B.F., Schor, N.F., St. Geme, J.W. III and Behrman, R.E., Eds., Nelson Textbook of Pediatrics, 19th Edition. Elsevier Saunders, Philadelphia, 1549. doi:10.1016/B978-1-4377-0755-7.00418-8
[10] Mellander, M. and Sunnegardh, J. (2006) Failure to diagnose critical heart malformations in newborns before discharge—An increasing problem? Acta P?diatrica, 95, 407-413. doi:10.1080/08035250500541910
[11] Tegnander, E., Eik-Nes, S.H., Johansen, O.J. and Linker, D.T. (1995) Prenatal detection of heart defects at the routine fetal examination at 18 weeks in a non-selected population. Ultrasound in Obstetrics & Gynecology, 5, 372-380. doi:10.1046/j.1469-0705.1995.05060372.x
[12] Meberg, A., Brügmann-Pieper, S., Due, R. Jr., Eskedal, L., Fagerli, I., Farstad, T., et al. (2008) First day of life pulse oximetry screening to detect congenital heart defects. The Journal of Pediatrics, 152, 761-765. doi:10.1016/j.jpeds.2007.12.043
[13] Meberg, A., Andreassen, A., Brunvand, L., Markestad, T., Moster, D., Nietsch, L., et al. (2009) Pulse oximetry screening as a complemetatry strategy to detect critical congenital heart defects. Acta Paediatrica, 98, 682-686. doi:10.1111/j.1651-2227.2008.01199.x
[14] Kiráhly, P., Kapusta, L., Van Lier, H., Hofman A.O. and Dani?ls O. (1997) Natural history of congenital aortic valvar stenosis: an echo and Doppler cardiographic study. Cardiology in the Young, 7, 188-193.
[15] Grech, V. and Gatt, M. (1999) Syndromes and malformations associated with congenital heart disease in a population-based study. International Journal of Cardiology, 68, 151-156. doi:10.1016/S0167-5273(98)00354-4
[16] Eskedal, L., Hagemo, P., Eskild, A., Aamodt, G., Seiler, K.S. and Thaulow, E. (2004) A population-based study of extra-cardiac anomalies in children with congenital cardiac malformations. Cardiology in the Young, 14, 600-507. doi:10.1017/S1047951104006043
[17] Fokstuen, S., Arbenz, U., Artan, S., Dudly, F., Bauersfeld, U., Brecevic, L., et al. (1998) 22q11.2 deletions in a series of patients with non-selective congenital hert defects: Incidence, type of defects and parental origin. Clinical Genetics, 53, 63-69. doi:10.1034/j.1399-0004.1998.531530113.x
[18] Lyons Jones K. (2006) Genetics, genetic counceling, and prevention. In: Jones, K.L., Ed., Smith’s Recognizable Patterns of Human Malformation, 6th Edition. Elsevier Saunders, Philadelphia, 796-816.
[19] Hiraishi, S., Agata, Y., Nowatari, M., Oguchi, K., Misawa, H, Hirota, H., et al. (1992) Incidence and natural course of trabecular ventricular septal defect: Two-dimensional echocardiography and color Doppler flow imaging study. The Journal of Pediatrics, 120, 409-415. doi:10.1016/S0022-3476(05)80906-0
[20] Garne, E. (2006) Atrial and ventricular septal defects—Epidemiology and spontaneous closure. The Journal of Maternal-Fetal Neonatal Medicine, 19, 271-276. doi:10.1080/14767050500433817
[21] Ben-Shachar, G., Arcilla, R.A., Lucas, R.V. and Manasek, F.J. (1985) Ventricular trabeculations in the chick embryo heart and their contribution to ventricular and muscular septal development. Circulation Research, 57, 759-766. doi:10.1161/01.RES.57.5.759
[22] Liberthson, R.R. (1996) Sudden death from cardiac causes in children and young adults. The New English Journal of Medicine, 334, 1039-1044. doi:10.1056/NEJM199604183341607
[23] Wren, C., Reinhardt, Z. and Khawaja, K. (2008) Twenty-year trends in diagnosis of life-threatening neonatal cardiovascular malformations. Archives of Disease in Childhood (Fetal and Neonatal Edition), 93, F33-F35. |doi:10.1136/adc.2007.119032
[24] Perloff, J.K. (1991) Congenital heart disease in adults. A new cardiovascular subspeciality. Circulation, 84, 1881-1890. doi:10.1161/01.CIR.84.5.1881

Copyright © 2024 by authors and Scientific Research Publishing Inc.

Creative Commons License

This work and the related PDF file are licensed under a Creative Commons Attribution 4.0 International License.