Congenital Absence of Sternum: A Surgical Technique for Successful Outcome.

Congenital absence of sternum is a rare malformation of the anterior chest wall that needs surgical correction to avoid life-threatening complications as a consequence of such defect. It results from either partial or complete failure of fusion of mesenchymal strip during in utero organogenesis. The absence of sternum entails the risk of trauma to the mediastinal structures and other life-threatening complications. This defect is evaluated by a thorough clinical examination and computed tomography imaging of the thoracic cage to plan the surgical procedure. Early repair of the defect when the thoracic cage is still compliant yields the best result.

The importance of designing a protector for a preterm and low birth weight infant with ectopia cordis.

Ectopia cordis is a rare condition with expected low survival rate based on past studies. We encountered a case of a preterm and low birth weight infant with ectopia cordis. When the infant cried, the prolapse of the heart, liver, and intestinal tract worsened. A pressure-applying protector was used to protect the organs and reduce the prolapse. Upon application, the infant's tachypnea and desaturation worsened. Fluoroscopic examination suggested that the pressure from the prolapsed regions was impeding pulmonary expansion and negatively affecting circulation. It is essential to carefully design a protector that accommodates the infant's growth.

Perinatal Outcomes of Fetuses with Prenatally Diagnosed Atrial Appendage Aneurysm.

To evaluate the characteristics and outcomes of fetuses with atrial appendage aneurysm (AAA) diagnosed by fetal echocardiography. The fetal echocardiography records of 1956 fetuses were evaluated retrospectively. Nine pregnancies who had been diagnosed with fetal AAA prenatally and evaluated after delivery were enrolled in the study. Perinatal and obstetric outcomes were analyzed. The incidence of fetal AAA in our series was 0.46%. Seven fetuses (77.8%) had right AAA, 1 fetus had left AAA (11.1%) and 1 fetus (11.1%) had bilateral AAA. The average gestational age at the first observation and/or diagnosis and gestational age at delivery was 22.3 ± 1.9 weeks and 34.7 ± 4.9 weeks, respectively. Incidences of associated cardiac anomaly, pericardial effusion, and nonimmune hydrops fetalis (NIHF) were 44.4%, 22.2%, and 11.1%, respectively. There was no chromosomal abnormality detected in 4 pregnancies where karyotype analysis was performed. There were 2 neonatal (22.2%) and 1 fetal (11.1%) deaths in our study group. Detailed cardiac and structural ultrasonographic examination should be performed in pregnancies with fetal AAA.

Pentalogía de Cantrell diagnosticada en el primer trimestre: reporte de caso / Cantrell's pentalogy diagnosed in the first trimester: case report

La pentalogía de Cantrell es una rara anomalía congénita caracterizada por la asociación de ectopia cordis con defectos en la pared toracoabdominal, el diafragma, el esternón y pericárdicos, y anomalías cardíacas intrínsecas. En diagnóstico prenatal, la ecografía se utiliza sistemáticamente entre las 11 y 14 semanas de gestación, evaluando marcadores de alteraciones cromosómicas como la sonolucencia nucal, el hueso nasal y la morfología patológica del ductus venoso, entre otros. Además, permite examinar la anatomía fetal y diagnosticar anomalías mayores, como acrania-anencefalia, holoprosencefalia, defectos de la pared abdominal y toracoabdominal, entre los que se incluye la pentalogía de Cantrell. Se reporta un feto con los hallazgos clásicos de pentalogía de Cantrell, que fue expulsado a las 13 semanas de gestación bajo protocolo de interrupción voluntaria del embarazo. Madre de 23 años, G1P0, sin exposiciones teratogénicas, en cuyo feto se encontró ectopia cordis, asas intestinales e hígado por fuera de la cavidad abdominal en las 10 y 12 semanas de gestación. El objetivo de este estudio es aportar a la literatura un reporte de pentalogía de Cantrell, siendo el primero reportado en Colombia en el primer trimestre de gestación, mostrando la importancia de la ecografía sistemática durante este periodo, en el marco de la posibilidad de interrupción voluntaria del embarazo.

Cantrells pentalogy is a rare congenital anomaly characterized by the association of ectopia cordis with intrinsic cardiac anomalies and various anatomical defects found in the thoracoabdominal wall, diaphragm, sternum and pericardium. Ultrasound is used routinely between 11 and 14 weeks of gestation during prenatal diagnosis. It evaluates markers of chromosomal alterations such as nuchal sonolucency, the nasal bone, and the pathological morphology of the ductus venosus, among others. Furthermore, it allows the diagnosis of altered fetal anatomy and major abnormalities such as acrania-anencephaly, holoprosencephaly, abdominal and thoraco-abdominal wall defects including Cantrells pentalogy. In this case report, we present a fetus with the classic findings of Cantrells pentalogy, which was expelled during the 13th week of gestation under the protocol of voluntary interruption of pregnancy. The mother, a 23-year-old woman, G1P0, without teratogenic exposures, in whom during the routine ultrasound of the 10th and 12th weeks of gestation ectopia cordis, intestinal loops and liver outside the abdominal cavity were found on the fetus. The main objective of this study is to contribute to the literature a case report of pentalogy of Cantrell, diagnosed through prenatal ultrasound, being the first reported in Colombia during first trimester of gestation, showing the importance of routine ultrasound, in the context of access to a voluntary termination of pregnancy.

Pentalogy of Cantrell in Two Neonate Littermate Puppies: A Spontaneous Animal Model Suggesting Familial Inheritance.

Developmental anomalies are an important cause of stillbirth and early perinatal death in companion animals. Many of these disorders remain poorly understood and provide an opportunity as a spontaneous animal model for human disease. Pentalogy of Cantrell is a rare congenital syndrome described in human neonates. It is a ventral midline closure defect with a proposed familial inheritance in humans. This syndrome involves five defects, including the thoracoabdominal wall, sternal, diaphragmatic, pericardial and cardiac malformations. Diverse expressions of these defects have been described in humans and sporadically in domestic animals. This severe syndrome commonly harbors a poor prognosis, posing an ethical and surgical dilemma. To better understand this syndrome and its presentation in dogs, we describe two rare cases of Pentalogy of Cantrell in a litter of papillon dogs. The affected puppies had anomalies compatible with the Pentalogy of Cantrell, including thoracoabdominal schisis, ectopia cordis, sternal cleft, pericardial agenesis, and diaphragmatic defects. The diagnosis was confirmed by advanced imaging (computed tomography) and postmortem examinations. The family history of this litter was explored and other cases in domestic animals were reviewed. This is the first report of the complete Pentalogy of Cantrell with ectopia cordis in the dog and the only report on papillons. Similar to human cases, possible familial inheritance and suspected male gender bias were observed. Further research on this novel animal model, its pathogenesis and its hereditary basis, may be helpful in better understanding this rare developmental disorder.

Ectopia cordis with multiple ventricular septal defect and sternal cleft in a newborn: a case report.

Ectopia cordis is a rare type of malformation where the heart is not located normally. It may be partially or completely located outside the thoracic cavity and can be associated with other congenital abnormalities. Case presentation: This case report is of a 34-week- and 6-day-old female fetus with a birth weight of 2040 g, a height of 41 cm, and a head circumference of 32 cm. The initial physical examination revealed a responsive newborn with an externalized heart outside the chest, with pericardium protection. In addition, a thoracic wall defect was detected suggesting incomplete formation of the septum bone. Moreover, in this case, the echocardiography report showed a multiple ventricular septal defect. Conclusion: The management of ectopia cordis is a challenge for any obstetrician and pediatric surgeon due to its rarity. It causes mental agony and anxiety to the parents. With an early diagnosis, termination of pregnancy can be one of the options. Once it is diagnosed late, it needs a multidisciplinary approach, and the services of a very experienced pediatric surgeon to improve the prognosis.

Ectopia cordis: prenatal diagnosis, perinatal outcomes, and postnatal follow-up of an international multicenter cohort case series.

OBJECTIVE: This study aimed to analyze prenatal diagnosis, perinatal outcomes, and postnatal follow-up in fetuses with ectopia cordis (EC). METHODS: This retrospective analysis accessed 31 patients with EC who were either diagnosed or referred to a tertiary Fetal Medicine centers for EC diagnosis in Brazil, Germany, Italy, and Poland. We analyzed prenatal diagnosis, perinatal outcomes, and follow-up in these patients. RESULTS: Our study included a cohort of 31 fetuses with EC, 4 and 27 of whom had partial and complete protrusion of the heart through a ventral defect in the thoracoabdominal wall, respectively. EC was diagnosed by fetal echocardiography at a mean gestational age of 20.3 ± 8.6 weeks (range, 8-35 weeks). Of the four cases, in which the karyotype was performed, all of them had a normal result (1 - 46,XX and 3 - 46,XY). Five patients showed conotruncal abnormalities and six ventricular septal defects. Termination of pregnancy (TOP) was performed in 15 cases (48%) and seven pregnant women had spontaneous fetal demise (22.5%). Of the seven fetuses that were born alive, four of them died, and three infants underwent surgery. Among these three infants, all of them survived, one was 5 months, 13 years old and 29 years old at the time of study completion. CONCLUSIONS: Ectopia cordis is associated with high mortality rates and intracardiac/extra-cardiac defects. Ventricular septal defects and conotruncal anomalies were the more common intracardiac defects associated with EC. However, in this cohort of fetuses with EC the incidence of PC was lower than reported in the literature.

Unexpected Findings of Regulatory Factor X6 Gene Mutation and Severe Hepatic Macrovesicular Steatosis in a Neonate with Congenital Left Ventricle Diverticulum: A Case Report.

Herein we present a case of a neonate with congenital left ventricular diverticulum (LVD), a rare anomaly, with an unusual course and unexpected findings. The neonate was born at 35 weeks in Namazi Hospital (Shiraz, Iran) and presented with a pulsatile umbilical mass immediately after birth. Based on multiple imaging modalities, the presence of a connection between the left ventricular apex and the umbilicus was confirmed. Percutaneous closure of LVD was unsuccessful. The patient's clinical course deteriorated after developing sepsis and multiorgan failure. The patient passed away before any corrective surgery could be performed. Unexpected findings in post-mortem evaluation were severe hepatic macrovesicular steatosis (suggestive of metabolic liver disease) and regulatory factor X6 (RFX6) heterozygous missense mutation in whole-exome sequencing.

Body Stalk Anomaly Complicated by Ectopia Cordis: First-Trimester Diagnosis of Two Cases Using 2- and 3-Dimensional Sonography.

INTRODUCTION: Body stalk anomaly is a severe defect of the abdominal wall, characterized by the evisceration of abdominal organs and, in more severe cases, thoracic organs as well. The most serious condition in a body stalk anomaly may be complicated by ectopia cordis, an abnormal location of the heart outside the thorax. The aim of this scientific work is to describe our experience with the prenatal diagnosis of ectopia cordis as part of the first-trimester sonographic screening for aneuploidy. METHODS: We report two cases of body stalk anomalies complicated by ectopia cordis. The first case was identified during a first ultrasound examination at 9 weeks of gestation. The second was identified during an ultrasound examination at 13 weeks of gestation. Both of these cases were diagnosed using high-quality 2- and 3-dimensional ultrasonographic images obtained by the Realistic Vue and Crystal Vue techniques. The chorionic villus sampling showed that the fetal karyotype and CGH-array were both normal. RESULTS: In our clinical case reports, the patients, immediately after the diagnosis of a body stalk anomaly complicated by ectopia cordis, opted for the termination of pregnancies. CONCLUSION: Performing an early diagnosis of a body stalk anomaly that is complicated by ectopia cordis is desirable, considering their poor prognoses. Most of the reported cases in the literature suggest that an early diagnosis can be made between 10 and 14 weeks of gestation. A combination of 2- and 3-dimensional sonography could allow an early diagnosis of body stalk anomalies complicated by ectopia cordis, particularly using new ultrasonographic techniques, the Realistic Vue and the Crystal Vue.

Evaluation of clinical features and outcome of eight fetuses with ectopia cordis; A study from a fetal cardiology center.

We aim to evaluate the clinical course and outcome of cases with a prenatal diagnosis of ectopia cordis in our center. In this retrospective study, we analyzed clinical variables including gestational age at diagnosis, maternal age, associated cardiac, extracardiac, genetic anomalies and, outcome in prenatally diagnosed ectopia cordis cases in our tertiary referral center. Eight ectopia cordis cases from seven pregnancies were included in the study. All fetuses had complete type of ectopia cordis and pentalogy of Cantrell. Five multiple pregnancies were found, four were twin pregnancies (three dichorionic diamniotic, one monochorionic monoamniotic) and one was triplet (trichorionic triamniotic). In the monochorionic monoamniotic twin pregnancy, both fetuses have pentalogy of Cantrell. Two cases had intracardiac structural defects including Tetralogy of Fallot and hypoplastic right heart syndrome. Three pregnancies were terminated, four cases delivered alive could not survive beyond the neonatal period. The striking feature in our study is its association with multiple pregnancies.

Computed tomography angiography features of children with ectopia cordis.

Ectopia cordis is a rare congenital defect with high mortality, and it remains challenging to radiologists, neonatologists and surgeons. CT angiography provides key information that aids in the decision-making process for possible surgical intervention. This pictorial essay describes CT angiography features in six neonates with ectopia cordis.

Pentalogy of Cantrell Associated with Ectopia Cordis: A Case Report.

Pentalogy of Cantrell is a congenital anomaly of the median mesodermal constructions with a poor prognosis. It is characterized by defects of the anterior diaphragm, the lower sternum, the abdominal wall, pericardium, and various congenital heart malformations. We present a case of ectopia cordis and Pentalogy of Cantrell in a newborn of a healthy 35-year-old woman with no history of embryotoxic exposure or smoking. The infant was first diagnosed with the anomaly in the second trimester of pregnancy and was delivered at 35 weeks of gestational age via a caesarian section. Shortly after birth, he was transferred to the neonatal intensive care unit (NICU) due to progressive respiratory failure, which ultimately, along with septicemia, led to infant death on the second day. In conclusion, the Pentalogy of Cantrell should be appropriately assessed for effective prenatal counseling and postnatal management with a multidisciplinary team; since infant survival assessment and early diagnosis give the parents the option of terminating the pregnancy.

Radiological findings of partial expression pentalogy of Cantrell and other multiple congenital anomalies: A rare case report.

Pentalogy of Cantrell is a rare syndrome of anomalous malformation. In the present case, the syndrome was initially diagnosed as a complete pentad, including a supra-umbilical abdominal wall defect, a sternal defect, pericardial defects, an anterior diaphragmatic defect, and heart malformation. Diagnosis required several imaging modalities, including computed tomography (CT) and magnetic resonance imaging (MRI). In this case report, we present an 8-month-old female patient with a thoracic wall defect with ectopia cordis and a bilateral cleft lip and palate. In addition, a head CT scan showed craniosynostosis, hypogenesis of the corpus callosum, and tonsillar cerebellar herniation. Thoracoabdominal CT revealed herniation of the transverse colon up to the subcutaneous layer, diaphragmatic hernia, atrial septal defects (ASD), ventral septal defects (VSD), and a persistent left superior vena cava (PLSVC). A multidisciplinary approach is required for the optimal management of this syndrome. We describe a female infant who presented with pentalogy of Cantrell syndrome and include the findings from postnatal CT imaging.

Ectopia cordis abdominal. Apropósito de un caso

Resumen Introducción: La ectopia cordis es una malformación congénita poco frecuente y grave caracterizada por el desplazamiento del corazón fuera de la cavidad torácica, Existe discreto predominio en el sexo femenino y se asocia a teratógenos no potentes y relacionado también a factores genéticos, su diagnóstico prenatal es muy importante y su pronostico es desfavorable en casi la totalidad de los casos. Objetivo: Describir el manejo con una paciente con ectopia cordis en Letsholathebe Memorial Hospital II Republica de Botswana. Descripción: Se describe el manejo por parte del pediatra y el cardiólogo desde su diagnóstico desde su nacimiento hasta sus ingresos hospitalarios. Conclusiones: Ectopia cordis es una malformación congénita rara que tiene un mal pronóstico incluso después del enfoque quirúrgico y su gravedad está relacionada con la presencia de otras anomalías.

ABSTRACT Introduction: Ectopia cordis is a rare and severe congenital malformation characterized by the displacement of the heart outside the chest cavity, there is discreet predominance in the female sex and is associated with non-potent teratogens and also related to genetic factors, its prenatal diagnosis is very important and its prognostic is unfavorable in almost all cases. Objective Describe management with a patient with ectopia cordis at Letsholathebe Memorial Hospital II Republic of Botswana. Description: It describes the management by the pediatrician and the cardiologist from his diagnosis from birth to his hospital admissions. Conclusions: Ectopia Cordis is a rare congenital malformation that has a poor prognosis even after the surgical approach and its severity is related to the presence of other abnormalities.

Ectopia cordis in an adult patient with COVID-19: A case report and literature review.

Ectopia cordis (EC) is a rare congenital condition characterized by a partial or complete defect of the anterior chest wall. It is associated with ventricular and atrial septal defects (ASD), Ebstein's anomaly, truncus arteriosus, transposition of the great vessels, tetralogy of Fallot, and hypoplastic left heart syndrome. This study aimed to explore the cardiac manifestations of EC complicated by coronavirus disease 2019 (COVID-19). A 23-year-old male, born with EC, was admitted to the hospital for acute cough and fever. The patient was diagnosed with EC and ASD by computed tomography and COVID-19 via a polymerase chain reaction swab test. Patients with ECs rarely survive till adulthood. However, due to the rarity of this syndrome, upon literature review, we did not find a case of EC with concurrent COVID-19 infection. The patient underwent the required investigations and conventional treatment such as fluid resuscitation, antibiotics administration, and full code cardiopulmonary resuscitation. The interventions performed were unsuccessful, and the patient died. This case demonstrates a patient who lived with EC and its associated cardiac anomalies but died of COVID-19 and its complications despite full resuscitation attempts. Our findings suggest that patients with EC may survive to adulthood if they have an incomplete EC, fewer intracardiac defects except for ASD, and an absence of an omphalocele.

A Baby Born with Ectopia Cordis, Omphalocele, Cleft Lips and Palate: A Case Report.

Ectopia cordis is a rare congenital defect with the prevalence of 5 to 8 per million live births. Here we report a rare case of preterm female live birth with ectopia cordis associated with omphalocele, cleft lip, and palate. In this case, 14+ weeks ultrasound did not show any fetal abnormalities and parents were unaware of the condition until 35+ weeks when ultrasound detected the anomaly a few days before delivery. After delivery, they didn't give consent for further intervention which led to neonatal mortality 3 hours after birth. If the condition was diagnosed in time, an earlier intervention could have been done.

Prenatal diagnosis of a rare isolated thoracic-type ectopia cordis with complete form: a case report.

Ectopia cordis (EC) is a rare malformation that occurs as an isolated lesion or as part of the pentalogy of Cantrell which is characterized by midline closure defects. This was first described by Haller et al. in 1706. EC is seen with a frequency of 5.5-7.9 per 1 million births. It has five types that are: cervical, cervico-thoracic, thoracic, thoraco-abdominal, and abdominal. Its differentiation from the pentalogy of Cantrell, first described by Cantrell in 1958, must be done well. Thoracic type has the worst prognosis and due to this poor prognosis in the postnatal period, termination may be offered to these patients as an option. In this paper, a case of an isolated thoracic-type complete EC detected in the prenatal ultrasonography of a pregnant woman referred to our clinic at the 18 weeks and 3 days of gestation is presented.

[Subtotal sternal agenesis with ectopia cordis: surgical management and long-term outcome (a case in Benin)]. / Agénésie sternale subtotale avec ectopia cordis: gestion chirurgicale et résultat à long terme (à propos d´un cas au Bénin).

Sternal agenesis as well as ectopia cordis are extremely rare congenital malformations. We here report a single case treated in the Department of Paediatric Surgery in Benin. The study involved a 3-year-old girl with congenital sternal agenesis associated with ectopia cordis; firstly, she underwent controlled healing. Then thoracoplasty was performed with favourable outcome. Long-term results are good. Now, she is 13 years old, is attending school and has a satisfactory clinical condition. This is one of the few cases reported in the literature. Optimal therapeutic management has been keeping the patient alive in West Africa.

New clues to understand gastroschisis. Embryology, pathogenesis and epidemiology / Nuevas pistas para comprender la gastrosquisis. Embriología, patogénesis y epidemiología

Abstract gastroschisis is a congenital structural defect of the abdominal wall, most often to the right of the umbilicus, through which the abdominal viscera protrude. Its developmental, etiological and epidemiological aspects have been a hot topic of controversy for a long time. However, recent findings suggest the involving of genetic and chromosomal alterations and the existence of a stress-inducing pathogenetic pathway, in which risk factors such as demographic and environmental ones can converge. . We have conducted a review of the medical literature that gathers information on the embryonic development of the ventral body wall, the primitive intestine, and the ring-umbilical cord complex, as well as on the theories about its origin, pathogenesis and recent epidemiological evidence, for which we consulted bibliographic databases and standard search engines

Resumen La gastrosquisis es un defecto estructural congénito de la pared abdominal, localizado con mayor frecuencia a la derecha del ombligo, a través del cual sobresalen las vísceras abdominales. Durante mucho tiempo, sus aspectos evolutivos, etiológicos y epidemiológicos han sido un tema candente de controversia, aunque hallazgos recientes sugieren la participación de alteraciones genéticas, cromosómicas, y la existencia de una vía patogénica inductora de estrés, en la que factores de riesgo como los demográficos y ambientales pueden converger. Con el objetivo de ampliar la frontera del conocimiento sobre una malformación que ha mostrado una creciente prevalencia global, hemos efectuado una revisión que incluye información, del desarrollo embrionario de la pared corporal ventral, el intestino primitivo, el complejo anillo-cordón umbilical, y de las teorías acerca de su origen, patogénesis e información epidemiológica reciente.