A rare case of cardiac anomaly: prenatally diagnosed ectopia cordis

Abstract

Ectopia cordis is a rare congenital malformation in which the heart is located partially or totally outside the thoracic cavity. The estimated prevalence of ectopia cordis is 5.5-7.9 per million births and it comprises 0.1% of congenital heart diseases. Ectopia cordis is associated with other congenital heart diseases and various tissue and organ disorders. Common cardiac anomalies associated with ectopia cordis include ventricular septal defect, atrial septal defect, pulmonary stenosis, right ventricular diverticulum, double right ventricular outflow tract and tetralogy of Fallot. Extracardiac anomalies associated with ectopia cordis reported in the literature include omphalocele, gastrochisis, cleft lip and palate, scollosis and central nervous system malformations. Here we report a newborn with ectopia cordis who was diagnosed prenatally. (Turk Pediatri Ars 2015; 50: 129-31)

A Rare Case Report of Thoracic Ectopia Cordis: An Obstetrician’s Point of View in Multidisciplinary Approach

“…Embryologically, it is caused by failure of lateral mesoderm in the third week of intrauterine life and failure of midline fusion of the developing chest wall caused by compression of the thorax resulting from rupture of the chorion or yolk sac at around 21 days of gestation [10]. However, the relationship between abnormal karyotypes such as XXY, trisomy 18, and trisomy 21 was observed [6, 10]. …”

“…It is a rare congenital abnormality with an incidence of 5.5 to 7.9 per 1 million live births and includes 0.1% of congenital heart diseases [1–6]. The ectopic heart is one of the five characteristic abnormalities seen in patients presenting with the rare syndrome of pentalogy of Cantrell which comprises midline supraumbilical abdominal wall defect, deficiency of the anterior diaphragm, defect of the lower sternum, defect in diaphragmatic pericardium, and congenital heart disease [7, 8].…”

“…The ectopic heart is one of the five characteristic abnormalities seen in patients presenting with the rare syndrome of pentalogy of Cantrell which comprises midline supraumbilical abdominal wall defect, deficiency of the anterior diaphragm, defect of the lower sternum, defect in diaphragmatic pericardium, and congenital heart disease [7, 8]. Clinically, ectopia cordis has been classified into four types according to the cardiac location: cervical (3% of cases), thoracic (60% of cases), abdominal (30% of cases), and thoracoabdominal (7% of cases) [6, 9, 10]. Here we report one thoracic ectopia cordis case with anterior abdominal wall defect, supraumbilical omphalocele, heart ectopia, and congenital intracardiac defects.…”

Baby girl with pentalogy of Cantrell: a case report on an extremely rare condition

“…6 The failure of pathophysiology and embryologic development during pregnancy results in various abnormalities, especially those derived from the mesoderm layer.1-5 The extracardiac disorders include omphalocele, anterior diaphragmatic defects, sternal defect, may also be observed in association with ectopia cordis. 7 Omphalocele should be considered pathologic only, if it persists beyond 14 weeks or if its maximum diameter exceeds 1 cm in the first trimester of pregnancy. 8 The sternal and abdominal wall defects represent faulty migration of these mesodermal primordial structures.…”

Ultrasonographic Diagnosis of Fetuses with Pentalogy of Cantrell and Turner Syndrome, Dual Case Reports and Review of Literature

“…The underlying pathophysiology of Pentalogy of Cantrell continues to be poorly understood but is thought to be related to defective formation and differentiation of the ventral mesoderm [3,4]. Most importantly, mesoderm failure results in cardiac defects, which are the major determinant for severity and prognosis, most commonly ventral septal defect [4,5].…”