CASE REPORT A Rare Case of Complete Thoracic Ectopia Cordis with Clubfeet and Hands Syeda Khadija 1 , Sabir But 2 , Sadaf Ayesha 3 , Muhammad Yousaf 4 , Annum Majeed 5 A BSTRACT Ectopia cordis is a rare congenital condition. It is defned as the abnormal position of the heart outside the thoracic cavity, associated with defects in the parietal pericardium, diaphragm, sternum, and, in most cases, cardiac malformations. Ectopia cordis was frst proposed by Abott in 1998, although cases of patients with similar defects have been reported in the past. Ectopia cordis is produced by segmental defects in the mesodermal development in the third week of intrauterine life, and/or amniotic band syndrome that causes simultaneous cerebral and thoracoabdominal malformations. The existence of ectopia cordis with severe congenital heart disease may be confrmed in the prenatal period by vaginal echocardiography at 10–12 weeks of gestation or by abdominal echocardiography at 20–22 weeks. For such defects surgical correction is the only hope of survival, although the overall success rate is very poor. In recent years, surgery has been attempted in one or two phases with variable results that depend mainly on the type of associated heart disease. A 37 years old woman with gestational age of 29.5 weeks was referred for third trimester ultrasound to detect fetal anomaly. The fetal heart was seen outside lower the chest wall which was later confrmed by elective cesarean section. The heart was not covered with a membrane (pericardium). The rest of the anterior abdominal wall was intact. The abdomen was distended due to ascites. Keywords: Ascites, Clubfeet and hands, Ectopia cordis, Thoracoabdominal, Ultrasonography. Donald School Journal of Ultrasound in Obstetrics and Gynecology (2019): 10.5005/jp-journals-10009-1590 1–5 Department of University Institute of Radiological Sciences and Medical Imaging Technology, Faculty of Allied Health Sciences, University of Lahore, Lahore, Punjab, Pakistan Corresponding Author: Syeda Khadija, Department of University Institute of Radiological Sciences and Medical Imaging Technology, Faculty of Allied Health Sciences, The University of Lahore, Lahore, Punjab, Pakistan, Phone: +92-0335-1543555, e-mail: syyedakhadija55@ gmail.com, syeda.khadija@rsmi.uol.edu.pk How to cite this article: Khadija S, Butt S, et al. A Rare Case of Complete Thoracic Ectopia Cordis with Clubfeet and Hands. Donald School J Ultrasound Obstet Gynecol 2019;13(2):80–82. Source of support: Nil Confict of interest: None I NTRODUCTION Ectopia cordis is a condition in which there is partial or complete displacement of the heart outside of the thoracic cavity. It can occur either as a solitary malformation or can be associated with other abnormalities that afect the abdomen, thorax, or both. 1 It is categorized into four types based on the location of the heart: cervical, in which the heart is located higher into the area of neck (3% of cases); thoracic, in which the heart bulges anteriorly through a sternal defect (60% of cases); thoracoabdominal, in which the heart is located outside of the chest (7% of cases); and abdominal, in which the heart is located inferiorly into the abdomen (30% of cases). 2 The etiology of ectopic cordis has not been fully elaborated; however, there are various theories about this. 3 The estimated prevalence of Ectopia cordis is 5.5–7.9 per million live births and its frequency is 0.1% among all congenital heart diseases. 4,5 With the help of ultrasonography, early detection of fetal anomalies is becoming more common. Ectopic cordis diagnosed by ultrasound through the frst trimester scan ofers options of termination at earlier gestational ages which can reduce the psychological and physical trauma on some patients. 6 The prenatal sonographic evaluation of ectopia cordis is comparatively easy with two-dimensional real-time ultrasonography and it depends on the presentation of a pulsating heart outside the chest of the fetus. The prenatal diagnosis in the frst trimester has been recorded; however, the diagnosis before 9 weeks of gestation has not been documented. 7 The ultrasound performed within the frst trimester or by the start of the second trimester allows sufcient time to elaborate associated abnormalities. However, sometimes the diagnosis through ultrasonography can be difcult especially in the minor form of ectopia cordis, in such cases, it is superior to use three-dimensional scanning to demonstrate fetal bones because of greater contrast diference as compared to contiguous organs. 8 C ASE P RESENTATION A 37 years old G5P5A0 (Gravida5, para5, abortion0) woman with a gestational age of 29.5 weeks was referred for the third trimester ultrasound scan because the fundal height was greater than dates (LMP), to detect multiple pregnancy or fetal anomaly. The antenatal ultrasound scan showed a single, live, intrauterine gestation corresponding to a gestational age of 29 weeks and 5 days, on ultrasound scan, the fetal heart was visualized outside the chest wall through a defect in the lower sternum in association with anterior diaphragmatic and ventral abdominal wall defects suggestive of thoracoabdominal variety of complete ectopia cordis. There was a breach in the normal outline of the lower sternum indicating a sternal defciency. The fetal pericardium was absent, free fuid was present in the abdominal cavity therefor abdominal circumference (AC) measurement was considered unreliable. The placenta was anterior and normal with the normal amniotic fluid. Clubfeet and hands were present. The patient © The Author(s). 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons. org/licenses/by-nc/4.0/), which permits unrestricted use, distribution, and non-commercial reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.