1P-S2-1

CLINICAL CARDIOLOGY OF DEL22Q11 SYNDROME (CATCH 22)

Momma K

Tokyo Women’s Medical University, Tokyo, Japan

Objective: Review clinical cardiology of deletion of chromosome 22q11.

Method: We recognized this syndrome since 1970. We name it conotruncal anomaly face syndrome. Since 1993, we have confirmed the deletion of chromosome 22q11 in 200 patients. It is called CATCH 22.

Results: Associated congenital heart diseases include tetralogy of Fallot, tetralogy with pulmonary atresia and major aortopulmonary collateral arteries (MAPCA), truncus arteriosus, interrupted aortic arch type B. Tetralogy is the most common disease with CATCH 22; 15% of all cases of tetralogy are associated with the deletion. Tetralogy associated with the deletion has more complicated anomalies of the aortic arch and the ductus, including right arch, isolation or aberrant origin of subclavian artery, absent ductus and absent pulmonary valve and isolation of one pulmonary artery. CATCH 22 is very frequent in tetralogy, pulmonary atresia and MAPCA; 40% of all cases are associated with the deletion. Aortic arch anomalies are usually associated.

Thirty percent of truncus arteriosus is associated with CATCH 22. In some cases, CATCH 22-associated truncus is van Praagh type A3, and is associated with a stenotic pulmonary artery and MAPCAs.

Sixty percent of interrupted aortic arch is associated with CATCH 22.

Interruption type A is not associated with CATCH 22.

A special type of vascular ring is associated with CATCH 22. It is formed by the right aortic arch, retroesophageal arch or Kommerell’s diverticulum, aberrant left subclavian artery and the left ductus.

Conclusion: 80% of CATCH 22 are associated with conotruncal anomalies, including tetralogy of Fallot, truncus arteriosus, interrupted aortic arch, and anomalies of subclavian artery and the ductus areriosus.