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Complete heart block in the 18p--syndrome. Congenital calcification of the atrioventricular node
J A Bridge1, B M McManus, J Remmenga
1Department of Pathology and Oncology, University of Kansas Medical Center, Kansas City.
Insights
Complete heart block, where atria and ventricles beat independently, is rarely linked to genetic conditions. This study details a rare case of 18p-syndrome with complete heart block due to atrioventricular node calcification in a stillborn infant.
Area of Science:
- Cardiology
- Genetics
- Pediatric Pathology
Background:
- Complete heart block involves independent atrial and ventricular contractions, with varied causes.
- Cardiac abnormalities are uncommon in 18p-syndrome.
- Complete heart block can be symptomatic in infancy or associated with genetic syndromes.
Purpose of the Study:
- To report a rare case of complete heart block in an infant with 18p-syndrome.
- To investigate the etiology of complete heart block in this specific genetic syndrome.
Main Methods:
- Case report of a stillborn female infant.
- Autopsy and histopathological examination.
- Genetic analysis for 18p-syndrome.
Main Results:
- The infant presented with hydrops fetalis and complete heart block.
- Atrioventricular node calcification was identified as the cause of heart block.
- The infant was diagnosed with 18p-syndrome.
Conclusions:
- Complete heart block can occur in 18p-syndrome, secondary to atrioventricular node calcification.
- This case highlights an unusual cardiac manifestation of 18p-syndrome.
- Further research may elucidate the link between 18p-syndrome and cardiac conduction abnormalities.
Abstract:
Complete heart block exists when the atria and ventricles beat completely independently of each other. It is heterogeneous with respect to pathogenesis. Occasionally, complete heart block may be symptomatic in infancy. Rarely, it is associated with genetic syndromes. Cardiac abnormalities are unusual in the 18p-syndrome. We describe a female stillborn infant who had 18p-syndrome with hydrops fetalis and complete heart block secondary to atrioventricular node calcification.