Congenital Malformations of Heart in Perinatal Autopsies: A Clinicopathological Study

Background: Congenital cardiac malformations constitute one of the leading causes of perinatal morbidity and mortality, accounting for nearly one-third of all major structural fetal anomalies. Despite advances in prenatal imaging, particularly fetal echocardiography, accurate delineation of complex cardiac defects often remains challenging. Autopsy studies continue to play a pivotal role in confirming prenatal diagnoses, understanding embryopathogenesis, and identifying associated extracardiac abnormalities. Objectives: To study the spectrum and frequency of congenital cardiac malformations in perinatal deaths, assess their gestational and sex distribution, correlate with mode of death and fetal weight, and identify associated extracardiac anomalies. Materials and Methods: A retrospective descriptive study comprising 20 perinatal autopsy cases with major congenital cardiac malformations was conducted over a one-year period. Each case was analyzed for gestational age, sex, estimated birth weight, associated malformations, and mode of death. Statistical analysis included descriptive measures and correlation between gestational age and fetal weight. Results: The mean gestational age was 21.5 weeks and mean fetal weight was 447 g. Males constituted 65%, females 30%, and 5% had ambiguous genitalia (M: F = 2.1:1). The predominant mode of death was therapeutic termination (60%), followed by spontaneous abortion (30%) and intrauterine death (10%). The most frequent cardiac malformations were Double Outlet Right Ventricle (DORV) and Hypoplastic Left or Right Heart Syndromes, often associated with Congenital Cystic Adenomatoid Malformation (CCAM) or chromosomal syndromes such as Down and Mermaid Syndrome. A strong positive correlation (r = 0.95) was observed between gestational age and fetal weight. Conclusion: Perinatal autopsy remains a cornerstone for confirming and characterizing congenital cardiac malformations. Comprehensive autopsy evaluation enhances the understanding of associated extracardiac defects and aids in accurate genetic counseling, thereby contributing significantly to perinatal care and prevention strategies.