Ectopia cordis (EC) is a rare congenital malformation characterized by a complete or partial extrathoracic presentation of the heart,1 2 with an incidence of only 6 to 8 in a million live births globally.3 4 It occurs due to failure of maturation of the midline mesoderm and improper formation of the chest and abdomen during embryonic development.5 6 Depending on the heart’s ectopic location, EC is classified into four types—i.e., thoracic (65% of cases), thoracoabdominal (20%), abdominal (10%), and cervical (5%).1 2 4 7 Only two cases of EC, one thoracic and one thoracoabdominal, from the Philippines had been reported in literature.8 Cantrell’s pentalogy—findings of bifid sternum, absence of the diaphragm, defect of anterior diaphragmatic pericardium, defect of the anterior abdominal wall, and intracardiac defects—usually accompanies the thoracoabdominal type of EC.
Ectopia Cordis

We report a case of sternal reconstruction using bilateral sternal bar turnover flaps in a 4-year-old boy with an inferior sternal cleft, as part of Cantrell's pentad. When the patient was 10 months old, he underwent sternal reconstruction using a resorbable poly-L-lactic-polyglycolic acid plate in the first stage when there was insufficient autogenous tissue to provide a reliable reconstruction. Bilateral sternal bar turnover was performed in the second stage at 4 years of age. This operative technique is described in this report. This novel technique provides a robust, dynamic, and reliable reconstruction for inferior sternal defects.
Child, Preschool ; Ectopia Cordis ; Humans ; Male ; Pentalogy of Cantrell*

Supernumerary ectopic limb(s) (SEL) is a congenital anomaly defined as the presence of accessory limb(s) attached to various body regions. This paper describes a case of SEL with ectopic lung and ectopia cordis in a newborn calf, based on macroscopic, microscopic and radiographic findings. External features of multiple congenital anomalies included an ectopic lung growing over the middle of the backbone and covered with normal haired skin. Ectopia cordis was found in the abdominal cavity and attached to the liver. Two extra abnormal limbs originated separately from within the ectopic lung. Most of the abdominal organs were exposed to the outside through the opened abdominal cavity. Microscopically the ectopic lung tissue had edema in the connective tissue around the bronchus and artery. Changes in other organs included congestion of the renal medulla, infiltration of inflammatory cells (lymphocytes and eosinophils) around the hepatic portal tract, and edema surrounding blood vessels and neurons in the brain. The rudimentary humerus of the forelimb was attached to the thoracic spine, as viewed radiographically. The hindlimb was consisted of an irregularly shaped femur, short tibia and fibula, two tarsal bones, one metatarsal bone, and three phalanges. This is the first description of congenital anomalies involving the SEL, ectopic lung and ectopia cordis in a calf.
Abdominal Cavity ; Animals ; Arteries ; Blood Vessels ; Body Regions ; Brain ; Bronchi ; Connective Tissue ; Ectopia Cordis ; Edema ; Estrogens, Conjugated (USP) ; Extremities ; Femur ; Fibula ; Forelimb ; Hair ; Hindlimb ; Humans ; Humerus ; Infant, Newborn ; Liver ; Lung ; Metatarsal Bones ; Neurons ; Skin ; Spine ; Tarsal Bones ; Tibia

Ectopia Cordis ; surgery ; Humans ; Infant, Newborn ; Male

Pentalogy of Cantrell was very rare congenital anomaly and represent a regional prevalence of 5.5/1 million live births. The syndrome, Cantrell's pentalogy is characterized by defects in the lower sternum with ectopia cordis, anterior diaphragm defects, midline supraumbilical abdominal wall defects, defects in the diaphragmatic pericardium, and various intracardiac defects. Anencephaly involves acrania with a degenerated mass of brain tissue. Combination of both conditions are extremely rare. We experienced a case of Cantrell's pentalogy with anencephaly detected by ultrasonography at 15 weeks 1 day menstural age and confirmed at autopsy. Thus we report a case with brief review of the literature.
Abdominal Wall ; Anencephaly* ; Autopsy ; Brain ; Diaphragm ; Ectopia Cordis ; Hernia, Umbilical ; Live Birth ; Neural Tube Defects ; Pentalogy of Cantrell* ; Pericardium ; Prevalence ; Sternum ; Ultrasonography ; Ultrasonography, Prenatal*

OBJECTIVE: To evaluate pattern of associated structural anomalies, abnormal karyotypes and perinatal outcomes of fetuses with prenatally diagnosed single umbilical artery and to evaluate the relation of absent side of a single umbilical artery in association with anomalies and abnormal karyotypes. MATERIALS AND METHODS: 30 fetuses with a single umbilical artery were detected by prenatal ultrasound examnination between March 1998 and June 2001 at Eul-Ji University Hospital. All medical records were reviewed for maternal demographics, associated anomalies, karyotypic analysis, pregnancy complications, and neonatal outcome. RESULTS: Of the 30 fetuses, 11 (36.7%) were terminated because of severe anomalies and 2 (6.7%) experienced neonatal death. 17 fetuses (56.7%) had an associated structural anomaly. The structural anomalies found in association with single umbilical artery were cardiovascularac system (9 cases, 30.0%), urogenital system (6 cases, 20.0%), central nervous system (5 case, 16.7%) and ectopia cordis (1 case, 5.9%) and 7 cases (20%) among these had multiple malformations. Karyotype analysis was availabe in 25 cases and 5 (20%) of these were chromosomally abnormal. All of the karyotypically abnormal fetuses had a structural defect diagnosed on prenatal ultrasound examination in addition to the single umbilical artery. Of 13 fetuses without any associated structural or chromosomal anomalies, 3 (23.1%) demonstrated growth restriction. Of the 26 cases identified the absent side of a single umbilical artery, the right umbilical artery was absent in 13 (50%) and the left in 13 (50%) fetuses. The frequency with associated structural and chromosomal anomalies was equal on right (53.8%; 15.4%) and left (69.2%; 15.4%) sides. CONCLUSION: Scanning the umbilical cord should be one of the essential parts of 2 nd trimester ultrasonographic examination. When single umbilical artery is detected, a detailed ultrasonographic examnination including fetal echocardiography and fetal karyotyping should be recommended for search of associated structural and chromosomal abnormalities. In cases where single umbilical artery is an isolated finding on prenatal ultrasound, careful attention to fetal growth is necessary.
Abnormal Karyotype ; Central Nervous System ; Chromosome Aberrations ; Demography ; Echocardiography ; Ectopia Cordis ; Fetal Development ; Fetus* ; Karyotype ; Karyotyping ; Medical Records ; Pregnancy Complications ; Single Umbilical Artery* ; Ultrasonography ; Umbilical Arteries ; Umbilical Cord ; Urogenital System

OBJECTIVE: To evaluate pattern of associated structural anomalies, abnormal karyotypes and perinatal outcomes of fetuses with prenatally diagnosed single umbilical artery and to evaluate the relation of absent side of a single umbilical artery in association with anomalies and abnormal karyotypes. MATERIALS AND METHODS: 30 fetuses with a single umbilical artery were detected by prenatal ultrasound examnination between March 1998 and June 2001 at Eul-Ji University Hospital. All medical records were reviewed for maternal demographics, associated anomalies, karyotypic analysis, pregnancy complications, and neonatal outcome. RESULTS: Of the 30 fetuses, 11 (36.7%) were terminated because of severe anomalies and 2 (6.7%) experienced neonatal death. 17 fetuses (56.7%) had an associated structural anomaly. The structural anomalies found in association with single umbilical artery were cardiovascularac system (9 cases, 30.0%), urogenital system (6 cases, 20.0%), central nervous system (5 case, 16.7%) and ectopia cordis (1 case, 5.9%) and 7 cases (20%) among these had multiple malformations. Karyotype analysis was availabe in 25 cases and 5 (20%) of these were chromosomally abnormal. All of the karyotypically abnormal fetuses had a structural defect diagnosed on prenatal ultrasound examination in addition to the single umbilical artery. Of 13 fetuses without any associated structural or chromosomal anomalies, 3 (23.1%) demonstrated growth restriction. Of the 26 cases identified the absent side of a single umbilical artery, the right umbilical artery was absent in 13 (50%) and the left in 13 (50%) fetuses. The frequency with associated structural and chromosomal anomalies was equal on right (53.8%; 15.4%) and left (69.2%; 15.4%) sides. CONCLUSION: Scanning the umbilical cord should be one of the essential parts of 2 nd trimester ultrasonographic examination. When single umbilical artery is detected, a detailed ultrasonographic examnination including fetal echocardiography and fetal karyotyping should be recommended for search of associated structural and chromosomal abnormalities. In cases where single umbilical artery is an isolated finding on prenatal ultrasound, careful attention to fetal growth is necessary.
Abnormal Karyotype ; Central Nervous System ; Chromosome Aberrations ; Demography ; Echocardiography ; Ectopia Cordis ; Fetal Development ; Fetus* ; Karyotype ; Karyotyping ; Medical Records ; Pregnancy Complications ; Single Umbilical Artery* ; Ultrasonography ; Umbilical Arteries ; Umbilical Cord ; Urogenital System

Congenital defects of the sternum are rare development anomalies. They result form the failure of the lateral sternal bars to fuse. This malformation may be associated with other ventral midline fusion defects and ectopia cordis. A complete sternal cleft is the rarest form and less than 10 cases have been reported in the medical literature. Here were report a 3-day-old boy with complete sternal cleft without other malformations, who underwent primary surgical repair. Surgical correction of complete sternal cleft should be performed in neonatal period whether the infant if symptomatic or not because it is usually simple, able to achieve good result and primary repair is usually feasible at this period.
Congenital Abnormalities ; Ectopia Cordis ; Humans ; Infant ; Male ; Sternum

Ectopia cordis is a rare congenital anomaly in which the heart is situated outside the chest cavity and has been known for many years, being reported first in 1671 by Neil Stenson. Ectopia cordis appears closely related with defective embryonic development, arising as the result of defective formation and differentiation of the ventral mesoderm at 14 to 18 days of embryonic life. Ectopia cordis is usually classified into many types according to the site at which the heart protrudes: thoracic type, abdominal type, thoraco-abdominal type, cervical type. We have experinced one case of ectopia cordis which was diagnosed by ultrasonography at 16th gestational weeks in 30 year old multiparity. We report this case with brief review of literatures.
Adult ; Ectopia Cordis* ; Embryonic Development ; Female ; Heart ; Humans ; Mesoderm ; Parity ; Pregnancy ; Thorax ; Ultrasonography ; Ultrasonography, Prenatal*

Ectopia cordis is a very rare cardiac anomaly that the heart is partially or totally outside the thorax, and it was classified anatomically as 5 types-cervical, thoracocervical, thoracic (most common type), thoracoabdominal, abdominal types. We experienced a case of ectopia cordis (thoracic type) in a newborn who had the symptom of generalized cyanosis since birth, and expired during operation due to recurrent bradycardia and hypotension. The brief review of literature was made
Bradycardia ; Cyanosis ; Ectopia Cordis* ; Heart ; Humans ; Hypotension ; Infant, Newborn ; Parturition ; Thorax