Berry syndrome: a possible genetic link.
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.
Children's Mercy Hospital, 2401 Gillham Road, Kansas City, MO 64108, USA. njayaram@cmh.edu
Natalie
N
Jayaram
Joshua
J
Knowlton
Sanket
S
Shah
Mark
M
Gelatt
Gary
G
Lofland
Geetha
G
Raghuveer
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001013:Aorta, Thoracic / Q000002:abnormalities*; D003937:Diagnosis, Differential; D004452:Echocardiography; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D011651:Pulmonary Artery / Q000002:abnormalities*; D013348:Subclavian Artery / Q000002:abnormalities*; D013577:Syndrome; D014057:Tomography, X-Ray Computed