Author + information
- Received May 11, 1995
- Revision received July 21, 1995
- Accepted August 1, 1995
- Published online January 1, 1996.
- Kazuo Momma, MD**,
- Chisato Kondo, MD and
- Rumiko Matsuoka, MD
- ↵**Address for correspondence: Dr. Kazuo Momma, The Heart Institute of Japan, Tokyo Women's Medical College, Kawadacho 8-1, Shinjukuku, Tokyo 162, Japan.
Objectives. The purpose of this study was to clarify characteristics of tetralogy of Fallot and pulmonary atresia associated with chromosome 22q11 deletion.
Background. DiGeorge syndrome and conotruncal anomaly facies syndrome are associated with chromosome 22q11 deletion (hemizygosity). Associated cardiac anomalies include tetralogy of Fallot, truncus arteriosus and interrupted aortic arch.
Methods. Twenty-three patients with tetralogy of Fallot and pulmonary atresia were proved to have chromosome 22q11 deletion with fluorescent in situ hybridization using N25 probe (Oncor). Cardiovascular anomalies were compared with those in 26 patients with tetralogy of Fallot and pulmonary atresia without the deletion. Cardiovascular anomalies were studied with cardiac catheterization, cineangiography and echocardiography.
Results. In patients with 22q11 deletion, additional anomalies of the aortic arch, ductus arteriosus and pulmonary artery were more common as follows: right aortic arch (70% with deletion vs. 23% without deletion), high aortic arch reaching third rib (43% vs. 15%), aberrant left subclavian artery (35% vs. 0%), absent ductus arteriosus (83% vs. 46%), major aortopulmonary collateral arteries (91% vs. 50%), absent confluent central pulmonary arteries (48% vs. 4%).
Conclusions. In patients with tetralogy of Fallot and pulmonary atresia, additional anomalies of the aortic arch, ductus arteriosus and pulmonary arteries are more common in patients with than in those without the 22q11 deletion.
This study was supported by an open research grant from the Japan Research Promotion Society for Cardiovascular Diseases, research grants from the Ministry of Health and Welfare, the Japan Shipbuilding Industry Foundation, and the Science Research Promotion Fund from Japan Private School Promotion Foundation, Tokyo, Japan.
- Received May 11, 1995.
- Revision received July 21, 1995.
- Accepted August 1, 1995.
- American College of Cardiology