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Analysis of cardiac anomalies in VACTERL association
Bridget K Cunningham1, Donald W Hadley, Hwaida Hannoush
1Department of Pediatrics, Walter Reed National Military Medical Center-Bethesda, Maryland; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Insights
Congenital heart disease (CHD) affects newborns, and is often seen with VACTERL association. A screening echocardiogram is recommended for patients with VACTERL association to detect potential cardiac issues.
Area of Science:
- Pediatric Cardiology
- Clinical Genetics
- Developmental Biology
Background:
- Congenital heart disease (CHD) affects 3-5% of newborns.
- Extra-cardiac malformations occur in 7-50% of CHD patients.
- VACTERL association is a known condition associated with CHD, but definitions and incidence remain debated.
Purpose of the Study:
- To characterize cardiac findings in patients with VACTERL association.
- To investigate the association between CHD and other VACTERL features.
Main Methods:
- Retrospective case series analysis.
- Inclusion of patients meeting VACTERL association criteria.
- Detailed cardiac assessment of the cohort.
Main Results:
- 67% of eligible VACTERL patients had CHD.
- Ventricular septal defect was the most common CHD (58%).
- No significant association found between CHD severity and other VACTERL features.
Conclusions:
- The high frequency of CHD in VACTERL patients supports its consideration in diagnosis.
- Screening echocardiography is strongly recommended for individuals with potential VACTERL association.
- Further research is needed to clarify CHD's role in VACTERL definition.
Background:
Congenital heart disease (CHD) is estimated to affect between 3 and 5% of all newborns. Extra-cardiac malformations are observed in 7 to 50% of patients with CHD. One relatively well-known association that can occur in the context of CHD is VACTERL. Controversy still remains regarding the definition of VATER association and its expansion to VACTERL, the appropriate diagnostic criteria and the overall incidence.
Methods:
We conducted a description of a case series to characterize the cardiac findings present in a cohort of patients meeting the criteria for VACTERL association.
Results:
Forty-six of 220 were eligible for inclusion into the study, 67% (31 of 46) had CHD. The most common CHD was ventricular septal defect, present in 18 of 31 patients (58%). There was no statistically significant association between CHD severity and the presence or absence of other VACTERL component features, specifically anorectal malformation (p = 0.18) or tracheo-esophageal fistula (p = 0.72). CHD presence also did not correlate with the presence of tracheo-esophageal fistula or anorectal malformation.
Conclusion:
Although this study does not, by design, provide further evidence toward the questions of whether CHD is a defining feature of VACTERL association, the frequency of CHD in our cohort does lend support to it being an important medical consideration in patients with VACTERL association. Based on our experience, we strongly recommend a screening echocardiogram to evaluate for CHD in individuals with a potential diagnosis of VACTERL association.
