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Journal of the Korean Pediatric Society 2002;45(1):137-140.
Pulmonary Valve Absence and Tetralogy of Fallot in CATCH 22
Hye-Young Ryu1, Byoung-Lo Jin1, Jin-Man Kim2, Hong-Ryang Kil1
1Department of P ediatrics, College of Medicine, Chungnam National University, Taejeon, Korea
2Department of Pediatrics, College of Medicine, Chungnam National University, Taejeon, Korea
폐동맥 판막 결손/활로씨 4징에 동반된 CATCH 22 증후군 1례
유혜영1, 진병로1, 김진만2, 길홍량1
1충남대학교 의과대학 소아과학교실
2충남대학교 의과대학 병리학교실
Correspondence:  Hong-Ryang Kil,
Email: gilhong@cnu.ac.kr
Abstract
Congenital absence of the pulmonary valve associated with Tetralogy of Fallot(TOF) is a relatively rare cardiac malformation. In the majority of cases, this lesion is associated with ventricular septal defect, obstructive pulmonary valve annulus, and massive dilatation of the pulmonary arteries. This combination of lesions is often called tetralolgy of Fallot and absent pulmonary valve. Although survival beyond infancy is frequent, a number of infants with the severe form of this syndrome die early with signs of severe respiratory distress and intractable cardiac failure. Recently, absent pulmonary valve has been described in a feature of CATCH 22 syndrome with microdeletion of the long arm of chromosome 22(22q11.1). We have experienced a patient of pulmonary valve absence associated with TOF, who was presented with severe respiratory distress and heart failure after birth. She died in the neonatal period despite intensive care. She was confirmed to have microdeletion of 22q11.1 by fluorescence in situ hybridization. We report a case of pulmonary valve absence associated with TOF with microdeletion of chromosome 22q11.1 with related literature.
Key Words: CATCH 22, Absent pulmonary valve, Tetralogy of Fallot


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