Abstract
A large pedigree wherein members are predisposed to atrial septal defect (ASD) and associated cardiovascular anomalies has been studied. There were ten direct line relatives with ASD verified by cardiac catheterization and/or surgery and in one case by reliable medical history. The pedigree shows vertical transmission of ASD through four generations. Estimates of the genetic segregation ratio were near 50%, indicating that predisposition to ASD among family members was due to a deleterious autosomal dominant gene. Family members have also manifested other congenital heart anomalies, consistent with pleiotropic effects of the putative gene. Electrocardiograms in six ASD patients revealed an absence of prolonged P-R interval. In the light of prior studies showing prolonged P-R interval in familial ASD, we suggest the existence of at least two distinct hereditary varieties of ASD, one with and one without a prolonged P-R interval.
| Original language | English |
|---|---|
| Pages (from-to) | 600-604 |
| Number of pages | 5 |
| Journal | American Journal of Diseases of Children |
| Volume | 132 |
| Issue number | 6 |
| DOIs | |
| State | Published - 1978 |
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All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
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Hereditary Atrial Septal Defect : Update of a Large Kindred. / Lynch, Henry T.; Bachenberg, Kenneth; Harris, Randall E.; Becker, William.
In: American Journal of Diseases of Children, Vol. 132, No. 6, 1978, p. 600-604.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Hereditary Atrial Septal Defect
T2 - Update of a Large Kindred
AU - Lynch, Henry T.
AU - Bachenberg, Kenneth
AU - Harris, Randall E.
AU - Becker, William
PY - 1978
Y1 - 1978
N2 - A large pedigree wherein members are predisposed to atrial septal defect (ASD) and associated cardiovascular anomalies has been studied. There were ten direct line relatives with ASD verified by cardiac catheterization and/or surgery and in one case by reliable medical history. The pedigree shows vertical transmission of ASD through four generations. Estimates of the genetic segregation ratio were near 50%, indicating that predisposition to ASD among family members was due to a deleterious autosomal dominant gene. Family members have also manifested other congenital heart anomalies, consistent with pleiotropic effects of the putative gene. Electrocardiograms in six ASD patients revealed an absence of prolonged P-R interval. In the light of prior studies showing prolonged P-R interval in familial ASD, we suggest the existence of at least two distinct hereditary varieties of ASD, one with and one without a prolonged P-R interval.
AB - A large pedigree wherein members are predisposed to atrial septal defect (ASD) and associated cardiovascular anomalies has been studied. There were ten direct line relatives with ASD verified by cardiac catheterization and/or surgery and in one case by reliable medical history. The pedigree shows vertical transmission of ASD through four generations. Estimates of the genetic segregation ratio were near 50%, indicating that predisposition to ASD among family members was due to a deleterious autosomal dominant gene. Family members have also manifested other congenital heart anomalies, consistent with pleiotropic effects of the putative gene. Electrocardiograms in six ASD patients revealed an absence of prolonged P-R interval. In the light of prior studies showing prolonged P-R interval in familial ASD, we suggest the existence of at least two distinct hereditary varieties of ASD, one with and one without a prolonged P-R interval.
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U2 - 10.1001/archpedi.1978.02120310064013
DO - 10.1001/archpedi.1978.02120310064013
M3 - Article
C2 - 148839
AN - SCOPUS:0018231395
VL - 132
SP - 600
EP - 604
JO - JAMA Pediatrics
JF - JAMA Pediatrics
SN - 2168-6203
IS - 6
ER -