Berry syndrome: a possible genetic link.
Document Type
Article
Publication Date
8-2013
Identifier
DOI: 10.1007/s00246-012-0412-7
Abstract
Berry syndrome comprises a rare combination of heart defects that includes aortopulmonary window, interrupted aortic arch, intact ventricular septum, and aortic origin of the right pulmonary artery. We report the case of a neonate confirmed to have Berry syndrome by transthoracic echocardiogram and computed tomography (CT). This neonate had the additional finding of an aberrant right subclavian artery arising from the descending aorta. A single-stage repair was successfully performed when the infant was 7 days of age. Genetic testing showed a 102-kb deletion within chromosome band 9p24.2; this deletion has not been previously linked to congenital heart defects. Berry syndrome can be diagnosed accurately by transthoracic echocardiogram and CT. There may be an underlying genetic etiology, and this possibility warrants further investigation.
Journal Title
Pediatric cardiology
Volume
34
Issue
6
First Page
1511
Last Page
1513
MeSH Keywords
Abnormalities, Multiple; Aorta, Thoracic; Diagnosis, Differential; Echocardiography; Female; Genetic Predisposition to Disease; Genetic Testing; Heart Defects, Congenital; Humans; Infant, Newborn; Pulmonary Artery; Subclavian Artery; Syndrome; Tomography, X-Ray Computed
Keywords
Abnormalities, Multiple; Aorta, Thoracic; Diagnosis, Differential; Echocardiography; Female; Genetic Predisposition to Disease; Genetic Testing; Heart Defects, Congenital; Humans; Infant, Newborn; Pulmonary Artery; Subclavian Artery; Syndrome; Tomography, X-Ray Computed
Recommended Citation
Jayaram, N., Knowlton, J., Shah, S., Gelatt, M., Lofland, G., Raghuveer, G. Berry syndrome: a possible genetic link. Pediatric cardiology 34, 1511-1513 (2013).
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