Abstract
The Baltimore-Washington Infant Study, an epidemiologic investigation of congenital heart disease, searches for genetic and environmental risk factors. Among 2,102 infants with heart disease, 17.5% had a noncardiac abnormality of chromosomal or genetic origin, whereas among 2,328 control infants, only 0.7% had a genetic abnormality. Familial cardiovascular malformations encountered can be grouped into five distinct etiologic mechanisms. Single gene effects may be responsible for the specific histologic and biochemical changes in familial atrial septal defect with conduction disturbance and also in idiopathic ventricular hypertrophy. Left heart lesions showed familial concordance by the presumed morphogenetic mechanism of abnormal embryonic blood flow with phenotypes of varying severity. Pulmonary stenosis appeared with familial heritable disorders, as well as a partially concordant lesion with tetralogy of Fallot. Ventricular septal defect with transposition of the great arteries (one sibling pair) and with truncus arteriosus (two sibling pairs) indicate forme fruste expression of conotruncal defects. Endocardial cushion defect occurred with and without Down's syndrome in members of three families, suggesting inheritance of a defect affecting cellular migration. Heritable blood coagulopathies occurred in case families and not in control families. The association of hemophilia and transposition, observed also by others, is extremely unlikely by chance and suggests genetic errors of endothelial cell function. The description of specific families from a populationbased study emphasizes biologic questions on the nature of the inheritance of cardiovascular malformations.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 756-763 |
| Number of pages | 8 |
| Journal | Journal of the American College of Cardiology |
| Volume | 14 |
| Issue number | 3 |
| DOIs | |
| State | Published - 1989 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Nursing(all)
Cite this
Congenital cardiovascular malformations : Questions on inheritance. / Ferencz, Charlotte; Boughman, Joann A.; Neill, Catherine A.; Brenner, Joel; Perry, Lowell W.
In: Journal of the American College of Cardiology, Vol. 14, No. 3, 1989, p. 756-763.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Congenital cardiovascular malformations
T2 - Questions on inheritance
AU - Ferencz, Charlotte
AU - Boughman, Joann A.
AU - Neill, Catherine A.
AU - Brenner, Joel
AU - Perry, Lowell W.
PY - 1989
Y1 - 1989
N2 - The Baltimore-Washington Infant Study, an epidemiologic investigation of congenital heart disease, searches for genetic and environmental risk factors. Among 2,102 infants with heart disease, 17.5% had a noncardiac abnormality of chromosomal or genetic origin, whereas among 2,328 control infants, only 0.7% had a genetic abnormality. Familial cardiovascular malformations encountered can be grouped into five distinct etiologic mechanisms. Single gene effects may be responsible for the specific histologic and biochemical changes in familial atrial septal defect with conduction disturbance and also in idiopathic ventricular hypertrophy. Left heart lesions showed familial concordance by the presumed morphogenetic mechanism of abnormal embryonic blood flow with phenotypes of varying severity. Pulmonary stenosis appeared with familial heritable disorders, as well as a partially concordant lesion with tetralogy of Fallot. Ventricular septal defect with transposition of the great arteries (one sibling pair) and with truncus arteriosus (two sibling pairs) indicate forme fruste expression of conotruncal defects. Endocardial cushion defect occurred with and without Down's syndrome in members of three families, suggesting inheritance of a defect affecting cellular migration. Heritable blood coagulopathies occurred in case families and not in control families. The association of hemophilia and transposition, observed also by others, is extremely unlikely by chance and suggests genetic errors of endothelial cell function. The description of specific families from a populationbased study emphasizes biologic questions on the nature of the inheritance of cardiovascular malformations.
AB - The Baltimore-Washington Infant Study, an epidemiologic investigation of congenital heart disease, searches for genetic and environmental risk factors. Among 2,102 infants with heart disease, 17.5% had a noncardiac abnormality of chromosomal or genetic origin, whereas among 2,328 control infants, only 0.7% had a genetic abnormality. Familial cardiovascular malformations encountered can be grouped into five distinct etiologic mechanisms. Single gene effects may be responsible for the specific histologic and biochemical changes in familial atrial septal defect with conduction disturbance and also in idiopathic ventricular hypertrophy. Left heart lesions showed familial concordance by the presumed morphogenetic mechanism of abnormal embryonic blood flow with phenotypes of varying severity. Pulmonary stenosis appeared with familial heritable disorders, as well as a partially concordant lesion with tetralogy of Fallot. Ventricular septal defect with transposition of the great arteries (one sibling pair) and with truncus arteriosus (two sibling pairs) indicate forme fruste expression of conotruncal defects. Endocardial cushion defect occurred with and without Down's syndrome in members of three families, suggesting inheritance of a defect affecting cellular migration. Heritable blood coagulopathies occurred in case families and not in control families. The association of hemophilia and transposition, observed also by others, is extremely unlikely by chance and suggests genetic errors of endothelial cell function. The description of specific families from a populationbased study emphasizes biologic questions on the nature of the inheritance of cardiovascular malformations.
UR - http://www.scopus.com/inward/record.url?scp=0024450369&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0024450369&partnerID=8YFLogxK
U2 - 10.1016/0735-1097(89)90122-8
DO - 10.1016/0735-1097(89)90122-8
M3 - Article
C2 - 2768723
AN - SCOPUS:0024450369
VL - 14
SP - 756
EP - 763
JO - Journal of the American College of Cardiology
JF - Journal of the American College of Cardiology
SN - 0735-1097
IS - 3
ER -