Pulmonary arterial aneurysm with CATCH 22 syndrome--a case report.
An adult case of CATCH 22 syndrome with a pulmonary arterial aneurysm is presented. The chest radiograph showed a large massive lesion, which should be differentiated from lung cancer, mediastinal tumor, or aortic aneurysm. CATCH 22 syndrome is a developmental malformation caused by hemizygous deletion of 22q11 chromosome, which usually presents with cardiac malformation including tetralogy of Fallot, truncus arteriosus, patent arterial duct, and ventricular septal defect. Most patients with this syndrome usually die early in life.
Kinoshita
O
O
First Department of Internal Medicine, Shinshu University School of Medicine, and Cardiovascular Center, Marunouchi Hospital, Matsumoto, Japan. kinos@cocoa.ocn.ne.jp
Mizoue
T
T
Kusama
A
A
Gomi
E
E
Sato
S
S
Hongo
M
M
Kubo
K
K
Matsumoto
D000328:Adult; D000783:Aneurysm / Q000150:complications* / Q000000981:diagnostic imaging; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D011651:Pulmonary Artery / Q000000981:diagnostic imaging; D013577:Syndrome; D014057:Tomography, X-Ray Computed