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Severity and recurrence risk of congenital heart defects exemplified by atrial septal defect secundum
Insights
Increased congenital heart defect (CHD) recurrence in children may not stem from parental surgical correction. This study found no significant difference in defect severity between parents with and without affected children, excluding surgical intervention as a primary driver.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Congenital heart defect (CHD) frequency in offspring of affected parents has tripled.
- Improved treatments allow more CHD patients to have children, potentially increasing average defect severity in parents.
Purpose of the Study:
- To investigate if parental CHD severity influences recurrence risk in their children.
- To determine if surgical correction of atrial septal defect (ASD) contributes to increased CHD recurrence.
Main Methods:
- Studied 83 probands with atrial septal defect secundum (ASD).
- Recorded ASD dimensions at operation.
- Assessed CHD in 166 of their children.
- Analyzed hemodynamic data.
Main Results:
- 17 out of 166 children had CHD.
- ASD size in probands with affected children was not significantly different from those without affected children.
- Hemodynamic data analysis yielded similar findings.
Conclusions:
- Surgical correction of ASD is not a significant factor in the increased recurrence of atrial septal defects.
- Parental CHD severity, specifically ASD, does not appear to significantly increase recurrence risk in offspring.
Abstract:
It has been reported that the frequency of congenital heart defects (CHD) in children of an affected parent is now three to five times what it was 20 years ago. One conceivable cause of this is that patients with CHD of a severity that would have precluded parenthood before the advent of treatment are now able to (and consequently do) have children once the defect has been corrected. The mean severity of CHD among parents who have it would have thereby increased and this might, in turn, have increased the frequency of CHD in their children. But the latter would occur only if severely affected parents confer a greater risk on their children than parents who are mildly affected. To determine whether this is the case, we investigated 83 probands, each of whom had had an atrial septal defect secundum whose dimensions had been recorded at the time of operation. Of their 166 children, 17 had CHD. The defects of probands with affected children were not found to be significantly different in size from the defects in probands whose children were all normal. Analysis of the hemodynamic data available yielded a similar result. Our findings decisively exclude surgical correction as a significant explanation for the increased recurrence of atrial septal defect.