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Published on: January 27, 2023
A population-based study of coarctation of the aorta: comparisons of infants with and without associated ventricular
D S Wollins1, C Ferencz, J A Boughman
1American Society of Clinical Oncology, Alexandria, Virginia 22314, USA.
Insights
Infants with coarctation of the aorta and ventricular septal defect (CoA/VSD) have higher mortality and more extracardiac anomalies than those with isolated coarctation of the aorta (CoA). This suggests distinct genetic and environmental factors influence these conditions.
Area of Science:
- Pediatric Cardiology
- Congenital Cardiovascular Malformations
- Epidemiology
Background:
- Coarctation of the aorta (CoA) is a congenital cardiovascular malformation (CCVM).
- CoA can occur with or without a ventricular septal defect (VSD).
- Epidemiological differences between isolated CoA and CoA with VSD (CoA/VSD) are understudied.
Purpose of the Study:
- To investigate and compare epidemiological features of isolated CoA versus CoA/VSD.
- To identify potential risk factors and outcomes distinguishing these two conditions.
Main Methods:
- Utilized data from the Baltimore-Washington Infant Study (1981-1989).
- Compared 126 infants with pure CoA and 67 infants with CoA/VSD against 3,572 controls.
- Employed multiple logistic regression to analyze risk factors and outcomes.
Main Results:
- CoA/VSD cases showed higher rates of extracardiac anomalies (31% vs. 11%) and being small for gestational age (23% vs. 12%).
- First-year mortality was significantly higher for CoA/VSD (21%) compared to pure CoA (7%).
- Family history of CCVM and maternal organic solvent exposure were associated with both forms, while maternal epilepsy and macrodantin use were linked to pure CoA.
Conclusions:
- Findings suggest distinct genetic and environmental etiologies for pure CoA and CoA/VSD.
- Further research into the specific causes of CoA and CoA/VSD is warranted.
- Highlights the importance of considering associated defects in CCVM research.
Background:
Coarctation of the aorta (CoA) is a congenital cardiovascular malformation (CCVM) sometimes associated with ventricular septal defect (VSD). Although the phenotypic association is well documented, little research exists on the epidemiological features distinguishing CoA with and without VSD.
Methods:
The Baltimore-Washington Infant Study (1981-1989), a population-based study of CCVM, evaluated 126 infants with "pure" CoA (free of associated cardiac defects) and 67 infants with CoA and VSD (COA/VSD) in comparison to 3,572 controls.
Results:
The proportion of infants with associated extracardiac anomalies was greater among CoA/VSD than among pure CoA (31% versus 11%). Infants with CoA/VSD were twice as likely as those with pure CoA to be born small for gestational age (23% versus 12%, respectively, compared with 6% of controls). All-cause mortality during the first year of life was higher in CoA/VSD than in pure CoA (21% vs. 7%). Multiple logistic regression models revealed that family history of CCVM was associated with pure CoA (adjusted case-control odds ratio [OR] = 4.6; 99% confidence interval [CI] = 1.5-13.9) and with CoA/VSD (OR = 5.9, CI = 1.2-23.5); maternal history of organic solvent exposures early in pregnancy was also associated with pure CoA (OR = 3.2, CI = 1.0-10.2) and with CoA/VSD (OR = 3.7, CI 0.9-14.9). Additional risk factors, including maternal epilepsy (OR = 5.3, CI = 0.9-30.6), and use of macrodantin (OR = 6.7, CI = 1.4-31.8) were associated only with pure CoA.
Conclusions:
These findings highlight possible genetic and environmental differences between pure CoA and CoA/VSD and may stimulate further investigations of the etiology of CoA.
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