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Sternal defects associated with congenital pericardial and cardiac defects
C M Cottrill1, J Tamaren, B Hall
1Department of Pediatrics, University of Kentucky, Lexington, USA.
Insights
This study details three cases of sternal defects, ranging from mild to severe, linked with congenital anomalies. These cases highlight developmental failures in anterior and posterior midline fields, impacting thoracic and abdominal organ positioning.
Area of Science:
- Developmental Biology
- Clinical Genetics
- Pediatric Surgery
Background:
- Sternal defects are rare congenital anomalies that can occur in isolation or as part of a broader spectrum of developmental abnormalities.
- Understanding the embryological basis of sternal development is crucial for diagnosing and managing associated congenital defects.
Observation:
- Three cases of sternal defects with varying severity and associated congenital anomalies are presented.
- The most severe case involved near-complete absence of the sternum and pericardium, continuous with a large omphalocele, leading to ectopia cordis and other severe anomalies.
- Intermediate and milder cases exhibited sternal clefts, shortened sternum, pericardial/diaphragmatic defects, and various craniofacial and cardiac anomalies.
Findings:
- The severe and intermediate cases suggest a failure in the development of both anterior and posterior midline fields during embryogenesis.
- The mildest case indicates a failure primarily in the anterior midline field development.
- Associated anomalies included omphalocele, ventricular septal defects, atrial septal defects, tricuspid atresia, anencephaly, and encephalocele.
Implications:
- These cases expand the understanding of the spectrum of sternal defects and their association with other congenital anomalies.
- The findings support the hypothesis of distinct developmental fields influencing sternal and associated structure formation.
- Further research into the genetic and environmental factors underlying these developmental failures is warranted for improved clinical management and genetic counseling.
Abstract:
We describe three cases of sternal defects of varying severity associated with other congenital anomalies. In the most severe case, both anterior and posterior defects were seen, with near-absence of the sternum and pericardium continuous with a large omphalocele. This resulted in external location of organs usually confined within the thoracic and abdominal cavities. A ventricular septal defect was present, and the arterial duct was absent. The course of the ascending aorta was anomalous. The baby had anencephaly and rachischisis. In the intermediate case, a proximal sternal cleft was associated with shortening of the sternum, and absence of the manubrium. Anterior pericardial and diaphragmatic defects were seen, while a scalp defect and an encephalocele were present on the posterior aspect of the head. This baby had tricuspid atresia. The remaining case had only an anterior defect with a shortened sternum. A supra-umbilical omphalocele contained a left ventricular diverticulum without interposing pericardium or diaphragm. Ventricular and atrial septal defects were present. The first two cases can be considered as representing failure of development of both an anterior and a posterior midline field. The third case, much milder than the other two, represents failure of development of an anterior field.