Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 1295-1297 |
| Number of pages | 3 |
| Journal | American Journal of Diseases of Children |
| Volume | 147 |
| Issue number | 12 |
| DOIs | |
| Publication status | Published - 1993 |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Risk of Congenital Heart Defects in Relatives of Patients With Atrioventricular Canal. / Digilio, Maria Cristina; Marino, Bruno; Cicini, Maria Paola; Giannotti, Aldo; Formigari, Roberto; Dallapiccola, Bruno.
In: American Journal of Diseases of Children, Vol. 147, No. 12, 1993, p. 1295-1297.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Risk of Congenital Heart Defects in Relatives of Patients With Atrioventricular Canal
AU - Digilio, Maria Cristina
AU - Marino, Bruno
AU - Cicini, Maria Paola
AU - Giannotti, Aldo
AU - Formigari, Roberto
AU - Dallapiccola, Bruno
PY - 1993
Y1 - 1993
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=0027331379&partnerID=8YFLogxK
U2 - 10.1001/archpedi.1993.02160360037013
DO - 10.1001/archpedi.1993.02160360037013
M3 - Article
VL - 147
SP - 1295
EP - 1297
JO - A.M.A. American journal of diseases of children
JF - A.M.A. American journal of diseases of children
SN - 0002-922X
IS - 12
ER -