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Congenital Heart Disease and Associated Extracardiac Anomalies in Autopsies

Journal of the Korean Pediatric Society 1998;41(3):354-362.
Published online March 15, 1998.
Congenital Heart Disease and Associated Extracardiac Anomalies in Autopsies
Soon Seong Park, Myeong Ja Yoon, Jeong Sun Kim, Jeong Wook Seo, Chung Il Noh, Jung Yun Choi, Yong Soo Yoon, Byung Il Kim, Joong Hwan Choi, Chong Ku Yoon
Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea
선천성 심기형을 가진 태아 및 영아의 부검례에서 동반된 심장외 기형의 양상
박순성, 윤명자, 김정선, 서정욱, 노정일, 최정연, 윤용수, 김병일, 최중환, 윤종구
서울대학교 의과대학 소아과학교실
Jung Yun Choi, Tel: +82.2-760-3628, Fax: +82.2-743-3455, 
: In order to find out how frequently and what kind of extra-cardiac anomalies (CAs) is associated with congenital heart disease(CHD) in general and in each CAs, autopsies with congenital cardiovascular malformations were studied.
: Autopsy files of Seoul National University Children' s Hospital from 1991 to 1995 were reviewed to find cases of CHDs. Other extra-CAs were tabulated from the records of autopsy files. The study population was comprised of 156 cases(86 still birth or product of terminated pregnancy; 66 livebirth; 4 unknowns-whether still birth or livebirth).
: The sex ratio was 1.14:1 males to females. In still birth cases, gestational age ranged from 16 to 42 weeeks and in live birth cases, age ranged from 1 day to 1 year 7 months(mostly neonates). The ventricular septal defect(VSD) was the most common CA, followed by coarctation of aorta, tetralogy of Follot in this order of frequency. No extra-CA was found in 55 cases, 1 extra-CA in 54 cases, 2 extra-CAs in 35 cases, 3 or more extra-CAs in 12 cases. VSD was commonly associated with Edward syndrome and holoprosencephaly, tetralogy of Fallot with holoprosencephaly, and coarctation with cystic hygroma. The most commonly involved organ system was the central nervous system followed by the digestive system, facial anomaly, and so on. Chromosomal anomaly associated with CHDs was 24 cases. Common individual anomalies were cystic hygroma, Edward syndrome, holoprosencephaly, and so on.
: As the fetus and infants with CHD have high incidence of associated extra-CAs, collaborative works involving dysmorphologist, geneticist, pathologist, surgeons, and pediatric cardiologist are needed. For further studies of CA and extra-CAs, a systematic database and precise medical records and interdepartmental collaboration are necessary.
Key Words: Congenital Heart Disease, Extracardiac anomalies

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