Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22).
Chromosome 22q11 deletion or CATCH 22 is associated with DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. Associated congenital heart diseases include tetralogy of Fallot, truncus arteriosus, and ventricular septal defect. Associated anomalies of the aortic arch, aortic branches, ductus arteriosus, and pulmonary arteries are more frequent in patients with the deletion than in those without the deletion. Associated anomalies include right aortic arch, cervical aorta, aberrant origin or isolation of the subclavian artery, the absence of the ductus arteriosus, major aortopulmonary collateral arteries, isolation of the left pulmonary artery, and vascular ring formed by the right aortic arch, retroesophageal aortic arch, and left descending aorta.
Momma
K
K
Department of Pediatric Cardiology, The Heart Institute of Japan, Tokyo Women's Medical College, Kawadacho 8-1, Shinjukuku, Tokyo 162-8666, Japan.
Matsuoka
R
R
Takao
A
A
D001013:Aorta, Thoracic / Q000002:abnormalities*; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D006330:Heart Defects, Congenital / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D006801:Humans; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000235:genetics; D014339:Truncus Arteriosus, Persistent / Q000235:genetics