Ectopia cordis: a rare congenital anomaly.

Ectopia cordis (EC) is a rare congenital anomaly associated with the heart positioned outside of the thoracic cavity either partially or completely. The ectopic heart can be found along a spectrum of anatomical locations, including the cervical, thoracic and abdominal regions and in most cases, it protrudes outside the chest through a split sternum. Although the first case of EC was identified during the early 1600s only 91 cases have been reported since then in the literature. This review will discuss the history and prevalence of EC, its etiology, morphology, presentation and symptoms, complications, diagnosis, treatment and management and prognosis.

Embryology, sternal clefts, ectopia cordis, and Cantrell's pentalogy.

Sternal clefts, ectopia cordis, and Cantrell's pentalogy continue to be very rare congenital anomalies in pediatric surgery. Unfortunately, these conditions present as neonatal emergencies and demand early surgical intervention. This article reviews the embryological development of the chest wall, specific sternal defect anomalies, along with available methods of treatment.

[Prenatal diagnosis of pentalogy of Cantrell associated to bilateral cleft lip. A case report]. / Diagnóstico prenatal de la pentalogía de Cantrell concomitante con labio hendido bilateral. Reporte de un caso.

The pentalogy of Cantrell is a rare congenital syndrome characterized by deficiency of the anterior diaphragm and defects of abdominal wall, the pericardium, the lower sternum, as well as congenital intracardiac abnormalities. It has usually a poor prognosis, but most cases have had incomplete variants of this syndrome, so it is important to make a prenatal diagnosis to determine the size of the wall defect and to establish a multidisciplinary management. Less than 90 cases have been reported in the world literature. There are no casuistic or even treatment criteria in Latin America. A case of a newborn in whom was suspected this pentalogy associated to bilateral cleft lip by an ultrasound examination at 25 week of gestation is described. We also comment on diagnostic aspects, as well as anatomopathological, therapeutic, and prognostic characteristics.

When Closure Fails: What the Radiologist Needs to Know About the Embryology, Anatomy, and Prenatal Imaging of Ventral Body Wall Defects.

Ventral body wall defects (VBWDs) are one of the main categories of human congenital malformations, representing a wide and heterogeneous group of defects sharing a common feature, that is, herniation of one or more viscera through a defect in the anterior body wall. Gastroschisis and omphalocele are the 2 most common congenital VBWDs. Other uncommon anomalies include ectopia cordis and pentalogy of Cantrell, limb-body wall complex, and bladder and cloacal exstrophy. Although VBWDs are associated with multiple abnormalities with distinct embryological origins and that may affect virtually any system organs, at least in relation to anterior body wall defects, they are thought (except for omphalocele) to share a common embryologic mechanism, that is, a failure involving the lateral body wall folds responsible for closing the thoracic, abdominal, and pelvic portions of the ventral body wall during the fourth week of development. Additionally, many of the principles of diagnosis and management are similar for these conditions. Fetal ultrasound (US) in prenatal care allows the diagnosis of most of such defects with subsequent opportunities for parental counseling and optimal perinatal management. Fetal magnetic resonance imaging may be an adjunct to US, providing global and detailed anatomical information, assessing the extent of defects, and also helping to confirm the diagnosis in equivocal cases. Prenatal imaging features of VBWDs may be complex and challenging, often requiring from the radiologist a high level of suspicion and familiarity with the imaging patterns. Because an appropriate management is dependent on an accurate diagnosis and assessment of defects, radiologists should be able to recognize and distinguish between the different VBWDs and their associated anomalies. In this article, we review the relevant embryology of VBWDs to facilitate understanding of the pathologic anatomy and diagnostic imaging approach. Features will be illustrated with prenatal US and magnetic resonance imaging and correlated with postnatal and clinical imaging.

The embryologic origin of ventral body wall defects.

Ventral body wall defects include ectopia cordis, bladder exstrophy, and the abdominal wall malformations gastroschisis and omphalocele. The etiology of ectopia cordis, gastroschisis, and bladder exstrophy is not known, but they may be linked to abnormalities in the lateral body wall folds responsible for closing the thoracic, abdominal, and pelvic portions of the ventral body wall. These folds form in the fourth week (postfertilization) of development as a combination of the parietal layer of lateral plate mesoderm and overlying ectoderm and must move ventrally to meet in the midline. There are differential rates of cell proliferation in the folds and asymmetries in their movement that may be involved in teratogenic effects of toxic factors. Also, the fusion process between the folds is complex, involving cell-to-cell adhesion, cell migration, and cell reorganization and all of these phenomena may be targets for disruption, leading to malformations. In this regard, closure of the ventral body wall is likened to neural tube closure and involves similar processes. It also encompasses a similar time frame during development, such that most neural tube and ventral body wall defects have their origins during the fourth week of development. Omphalocele is a separate entity whose etiology is known. This defect is attributed to a failure of gut loops to return to the body cavity after their normal physiological herniation into the umbilical cord from the 6th to 10th week of development. Thus, the origin of this defect is completely different from that of the ventral body wall malformations.