Congenital heart defects--chromosomal anomalies, syndromes and extracardiac malformations.
OBJECTIVE
To register chromosomal anomalies, syndromes and extracardiac malformations in patients with Congenital heart defects (CHDs).


METHODS
Population-based prospective observational study.


RESULTS
Of 57 027 live births during 1982-2005, CHDs were detected in 662 (11.6 per 1000), of whom 146 (22%) had associated anomalies. Of these 52 (36%) had chromosomal anomalies (exclusive microdeletions), 26 (18%) genetic syndromes/microdeletions, 1 (0.7%) a teratogenous syndrome and 67 (46%) extracardiac malformations. In perimembraneous ventricular septal defects (VSDs), associated anomalies occurred in 22 of 70 (31%) compared to 27 of 298 (9%) in VSDs located in the muscular part of the septum (p < 0.0001). The prevalence of CHDs with associated disorders increased significantly from the cohort born during 1982-1993 to those born during 1994-2005 (2.0 vs. 3.1 per 1000, respectively; p < 0.0001), mainly caused by an increase of chromosomal trisomies (0.5 vs. 1.1 per 1000; p = 0.026). The percentage of women giving live birth at 35 years of age or more was 7.6% for the period 1982-1993 compared to 13.4% for 1994-2005 (p = 0.001).


CONCLUSIONS
Chromosomal anomalies, syndromes and extracardiac malformations occurred in nearly one-fourth of CHD cases. Muscular VSDs had a low prevalence of such conditions. The prevalence of CHDs with chromosomal trisomies increased, and was probably related to an increasing age of women giving birth.
Meberg
Alf
A
Department of Paediatrics, Vestfold Hospital, Tønsberg, Norway. alfmeb@start.no
Hals
Jardar
J
Thaulow
Erik
E
D000015:Abnormalities, Multiple / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D016009:Chi-Square Distribution; D025063:Chromosome Disorders / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008137:Longitudinal Studies; D008423:Maternal Age; D009664:Norway / Q000453:epidemiology; D015995:Prevalence; D011446:Prospective Studies; D013577:Syndrome