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Risk of congenital heart defects in relatives of patients with atrioventricular canal.
American Journal of Diseases of Children 1993 December
OBJECTIVE: To investigate the overall occurrence of congenital heart disease in 103 pedigrees with a proband affected with atrioventricular canal.
DESIGN: Family study of patient series.
SETTING: Department of Pediatric Cardiology, Bambino Gesu' Hospital, Rome, Italy.
PARTICIPANTS: One hundred three consecutive patients with atrioventricular canal and normal karyotype and their first- and second-degree relatives.
INTERVENTIONS: None.
MEASUREMENTS/MAIN RESULTS: In 12 pedigrees (11.7%), one or more relatives had concordant or discordant congenital heart disease. Congenital heart disease occurred in four (1.9%) of the 206 parents of probands, in four (3.6%) of the 111 siblings, and in five (0.8%) of the 644 uncles or aunts. None of the grandparents had congenital heart disease. Atrioventricular canal affected several family members in five pedigrees.
CONCLUSIONS: Familial aggregation of atrioventricular canal in several pedigrees requires careful collection of family histories, accurate cardiologic evaluation of the first- and second-degree relatives of the probands, and fetal echocardiography in all pregnant women in at-risk families.
DESIGN: Family study of patient series.
SETTING: Department of Pediatric Cardiology, Bambino Gesu' Hospital, Rome, Italy.
PARTICIPANTS: One hundred three consecutive patients with atrioventricular canal and normal karyotype and their first- and second-degree relatives.
INTERVENTIONS: None.
MEASUREMENTS/MAIN RESULTS: In 12 pedigrees (11.7%), one or more relatives had concordant or discordant congenital heart disease. Congenital heart disease occurred in four (1.9%) of the 206 parents of probands, in four (3.6%) of the 111 siblings, and in five (0.8%) of the 644 uncles or aunts. None of the grandparents had congenital heart disease. Atrioventricular canal affected several family members in five pedigrees.
CONCLUSIONS: Familial aggregation of atrioventricular canal in several pedigrees requires careful collection of family histories, accurate cardiologic evaluation of the first- and second-degree relatives of the probands, and fetal echocardiography in all pregnant women in at-risk families.
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