Congenital Heart Disease and Associated Extracardiac Anomalies in Autopsies

ABSTRACT

PURPOSE: 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. METHODS: 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). RESULTS: The sex ratio was 1.141 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. CONCLUSION: 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 andprecise medical records and interdepartmental collaboration are necessary.