Exteriorization of the Heart (Ectopia Cordis) It is maintained that the allegedly initial description of tetralogy of Fallot provided by Steno1 was also the first report of an extrathoracic heart.2 Rashkind,3 however, argued that such malformations were almost certainly recognized long before 1671, providing evidence that they were recorded in the writings of the ancient Babylonians Hearts positioned in part, or completely, out of the thorax fortunately remain very rare Until recently, with relatively few exceptions, such occurrences proved uniformly fatal Although the lesion is usually termed “ectopia,” there are deficiencies in such usage, since the Greek word “ektopos” simply means away from a place.4 It follows that a heart found in the right chest of an otherwise normal person would be ectopic Ectopia, nonetheless, is more usually used to account for a heart located in part, or completely, outside the thoracic cavity The heart, with or without its pericardial covering, is completely exteriorized through a deficiency of the skin in approximately three quarters of the reported cases.5 In the remaining cases, the heart is seen pulsating through the intact skin, with this variant also known as partial ectopia cordis The hearts have traditionally been grouped according to their location, with initial descriptions of cervical, thoracic, and abdominal subsets.6–8 It is convenient, nonetheless, to add a combined thoracoabdominal variant, along with a combined thoracocervical group.4 Cases encountered more recently continue to fall within these groupings When the heart is found in the neck, the sternum is usually intact This arrangement reflects a retention of the normal initial site of cardiac development.5 Examples have been recorded when an infant survived for a few hours with a cervical heart, while one patient with this anomaly was reputed to have survived to adult life.9 This latter example, however, would probably be better placed in the combined thoracocervical group Those dismissing the existence of the cervical subset have suggested the need to distinguish between a cleft to the sternum and an extrathoracic heart.2 Congenital absence or clefting of the sternum is always associated with abnormal positioning of the heart and arterial trunks to some extent, albeit with the overlying skin and pericardium remaining intact (Fig 49.1) Rarely, premature fusion of the manubriosternal joint and the sternal segments may produce a high carinate deformity of the chest, along with a short sternum This is the so-called Currarino-Silverman syndrome, which is frequently associated with congenital heart disease.10 Irrespective of such niceties, hearts of the cervical type are by far the rarest There is also a question mark over the group with the heart allegedly contained within the abdomen A large series of such hearts was combined to produce this grouping,6 but reexamination of the original reports suggested that, in all but one, part of the heart was retained within the chest, thus making it better to group them within the combined abdominothoracic subset.3 Therefore the majority of all cases either protrude from the chest or extend through a diaphragmatic defect All occupy a midline deficiency of the body wall, lying partly in the chest and partly either within the abdomen or the neck In the cases exteriorized from the chest, the hearts are usually covered by neither skin nor pericardium (Fig 49.2) In the past, various means had been employed to provide the lack of moisture ensuing from the absence of a pericardial cavity Thus, quaint accounts survive from the 18th century, describing exteriorized hearts being covered with a contraption made of pliable osiers and linen, and anointed with wine and melted butter.11 Hearts were also covered with a pasteboard cone, with oil used for the anointing agent, or else saline sponges.7 Irrespective of the method employed, most patients survived for only a matter of hours or days FIG 49.1 Computed tomographic reconstruction showing the abnormal location of the heart in the setting of the absence of the sternum There is a cervical aortic arch C, Clavicle; PT, pulmonary trunk