Presentation and outcomes of ectopia cordis

BACKGROUND: Ectopia cordis, defined as complete or partial displacement of the heart outside the thoracic cavity, is rare. The cause and pathogenesis are unknown. The anatomy of the heart may be normal, but the presence of st ructural heart disease as well as noncardiac malformations is common. Patie nts present incidentally after birth or, more recently, the condition has b een diagnosed by prenatal echocardiography. OBJECTIVE: To review the presentation, diagnostic imaging, management and o utcomes of infants with ectopia cordis at The Hospital for Sick Children, T oronto, Ontario. METHODS: The medical records of the database of the Division of Cardiology, The Hospital for Sick Children, were searched; echocardiograms, and surgic al and autopsy reports were further reviewed. RESULTS: Between 1978 and 1998, 10 patients with ectopia cordis presented t o the authors' centre. Normal cardiac anatomy was noted in three, and mild to complex structural cardiac anomalies were noted in the remainder. Associ ated noncardiac malformations were found in six cases. Six were diagnosed b y prenatal ultrasound between 19 and 37 weeks of gestation. Pregnancies wer e electively terminated or the infants died shortly after birth. Four other neonates with ectopia cordis were referred to the authors' centre. All of these infants subsequently died either at the time of surgery for cardiac a nd noncardiac anomalies or in the immediate postoperative period. CONCLUSIONS: Despite modern treatment options, the mortality remains high f or patients with ectopia cordis, especially in the presence of structural h eart disease or other malformations.