Successful balloon valvuloplasty using direct puncture of the heart for pentalogy of Cantrell with complete ectopia cordis, low birth weight, single ventricle and severe pulmonary stenosis.

We present a 31 gestational weeks' premature baby whose fetal echocardiogram showed ectopia cordis, single ventricle and severe pulmonary stenosis. At 31 gestational weeks, an emergency caesarean section was performed, and his birth weight was 1756 g, SpO2 was 80% on 100% O2. Epicardial echocardiogram showed double inlet right ventricle, severe valvular pulmonary stenosis and no ductus arteriosus. The risk of surgery was very high, so we decided to perform balloon valvuloplasty by direct puncture of the heart. We punctured the apex of the ventricle using a 16-gauge needle under echo guidance, advanced the guidewire to the pulmonary artery and performed balloon valvuloplasty. Soon after the procedure, the cyanosis improved dramatically. This is the first report of a transcatheter procedure performed by direct puncture of the heart for ectopia cordis with complex congenital heart disease.

Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum.

BACKGROUND: Ectopia cordis (EC) is a congenital anomaly associated with heart defects and extracardiac malformations. OBJECTIVES: We determined the various presentations of EC diagnosed in our center between 2010 and 2017. RESULTS: Seven fetuses from six pregnancies with EC were detected, five during the first trimester. Three were from multiple pregnancies, and both twins had EC in one monochorionic-monoamniotic pregnancy. Abdominal wall defects were detected in six fetuses. Kyphoscoliosis, cephalocele, clubfoot and short umbilical cord were other abnormalities. Five fetuses were terminated, one fetus died in utero, and one baby died on day two of life. Postnatal evaluation performed in all cases additionally detected cleft lips/palates in two fetuses and tetralogy of Fallot in one. CONCLUSION: Outcome is poor for these fetuses, EC can occur in a multiple pregnancy, most of the abnormalities can be identified in the first trimester and fetopsy continues to add information to the intrauterine diagnosis.

Prenatal diagnosis of ectopia cordis in a twin fetus.

We report images of the 7th case worldwide of a twin fetus with a complete isolated ectopia cordis in a dichorionic diamniotic twin gestation. There is no consanguinity, family history of abnormalities, IVF, or first trimester medication. The diagnosis of this isolated anomaly was done at 23 weeks in one fetus, while the other had normal morphology; the pregnancy was complicated by preterm labor and a cesarean delivery followed at 34 weeks. The affected baby weighed 1800 g and had an outcome complicated by episodes of desaturation and deceased at day 8. Parents did not wish either in utero termination of pregnancy or postnatal surgery for reintegration in the thorax and chose instead palliative care.

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.

Cardiac malposition (ectopia cordis) in a cat.

OBJECTIVE: To describe a case of cardiac malposition in a cat, and the successful management of the anomaly. CASE DESCRIPTION: A 2-year-old male neutered male British Shorthair cat weighing 7.58 kg was referred for bicavitary effusion. Ultrasonography and echocardiography demonstrated displacement of the heart into the abdomen through a diaphragmatic defect. Clinical signs of right-sided congestive heart failure were attributed to mechanical restriction of diastolic function by a constrictive segment of fibrous pericardium and to impaired venous return due to a kink in the caudal vena cava. Surgical repositioning of the heart into the thoracic cavity and a subtotal pericardectomy were performed, and the diaphragmatic defect was repaired. The patient recovered well postoperatively. NEW OR UNIQUE INFORMATION PROVIDED: The diagnosis and management of cardiac malposition has not been previously described in cats. With timely diagnosis and surgical intervention, a favorable outcome is possible.

Management of Pentalogy of Cantrell with complete ectopia cordis and Double Outlet Right Ventricle.

Pentalogy of Cantrell (PoC) is a rare congenital midline defect. We present a case and its treatment of PoC with complete ectopia cordis and congenital heart disease. Postnatally the congenital heart defect was surgically corrected and the ectopic heart was covered by musculous mobilized flap. Due to cephalic orientation of the heart and limited intrathoracic space, replacement of the heart into the thoracic cavity was initially not performed. After 11 years of follow up our patient now is without relevant limitations solely wearing a thoracic shelter. This case elucidates the complexity of further management. The potential risk of disastrous hemodynamic compromise by intrathoracic shift is to compare with the limited safety of the ectopic heart.

Ectopia cordis: a case report / Ectopia cordis: caso clínico

Ectopia cordis is a rare congenital malformation, with an estimated incidence of 5 to 8 per million live births. It is defined as a malformation in which the heart is located in an extra-thoracic position. Ectopia cordis may occur as an isolated malformation or associated with other anomalies such as omphalocele, congenital heart disease or integrating Cantrell syndrome. The size and location of the defect influence the prognosis. Description: we report a case of a 24-year-old nulliparous woman, with no relevant family or personal history, in which the prenatal fetal ultrasound, performed at 21 weeks of gestation, revealed adefect of the anterior chest wall with exteriorization of the heart. Discussion: fetal echocardiography revealed a severe congenital heart disease. The parents decided to continue the pregnancy, after being duly informed by a multidisciplinary team. Delivery occurred at 37 weeks of gestation but the female newborn died one hour afterwards. Pathological examination confirmed the sonographic findings...

A ectopia cordis é uma malformação congênita rara, com uma incidência estimada de 5 a 8 por milhão de nados vivos. Define-se como uma malformação em que o coração se localiza numa posição extratorácica. Pode surgir como malformação isolada ou associada a outras anomalias como onfalocelo, doença cardíaca congênita ou integrando o síndrome de Cantrell. A dimensão e o local do defeito influenciam o prognóstico. Descrição: descreve-se um caso de uma mulher de 24 anos, nulípara, sem antecedentes pessoais oufamiliares relevantes, em que a ultrassonografiaobstétrica, realizada às 21 semanas, revelou um defeito da parede torácica anterior com exteriorização do coração. Discussão: o ecocardiograma fetal revelou uma cardiopatia congênita grave. Os pais decidiram continuar com a gravidez, após de devidamente informados por uma equipe multidisciplinar. O partoocorreu às 37 semanas, tendo o recém-nascido falecido cerca de 1 hora após o mesmo. O estudo anatomopatológico confirmou os achados ultrassonográficos...

Successful surgical repair of pentalogy of cantrell at 14 months of age.

Pentalogy of Cantrell with ectopia cordis is a rare congenital anomaly, first described in 1958 by Cantrell, has a reported incidence of around 5-10 cases per one million live births with wide variety of clinical presentations. We are reporting a child with ectopia cordis along with cleft lower sternum, upper abdominal wall defect, ectopic umbilicus and diaphragmatic defect. Echocardiography in first month of life revealed a restrictive perimembranous ventricular septal defect and a small patent Foramen Ovale, both closed spontaneously in infancy. CT angiography at 10 months of age revealed a defect in the thoracic and abdominal walls along with herniation of left ventricular apex into epigastrium. The two ventriculi formed a tail that looked like a crocodile. This patient underwent surgical correction at our institution at 14 months of age and recovered well with no residual issue.

Pentalogy of Cantrell with ectopia cordis totalis, total anomalous pulmonary venous connection, and tetralogy of Fallot: a case report and review of the literature.

Pentalogy of Cantrell is a rare condition with a varied expression and a high mortality. We present a patient with the classic pentad (type 1), but with a previously undescribed constellation of cardiac manifestations including ectopia cordis totalis, total anomalous pulmonary venous return, and tetralogy of Fallot. This case reminds us of the challenges associated with the management of various forms of this condition. We discuss the prenatal diagnosis, genetic basis, postnatal evaluation, and management of this entity.

Fontan operation for the Cantrell syndrome using a clamshell incision.

A median sternotomy could be difficult for a child with ectopia cordis and complex congenital cardiac anomalies. We report a patient with ectopia cordis, functionally single ventricle and bilateral superior vena cava, who underwent a staged Fontan procedure through a clamshell incision and the sternothoracotomy approach.

A 'One in a million' case of pulsating thoracoabdominal mass.

Ectopia cordis is a rare congenital malformation in which the heart is located partially or totally outside the thoracic cavity. It comprises 0.1% of congenital heart diseases. The authors present a case of a male baby born at term by emergency caesarean section due to prolonged fetal bradycardia, who was noted to have a large pulsating mass in the thoracoabdominal area. In view of lower thoracolumbar abdominal defect, ectopic placement of the umbilicus, deficiency of the diaphragmatic pericardium, deficiency of anterior diaphragm and intracardiac abnormalities, a diagnosis of ectopia cordis-Pentalogy of Cantrell was made. He was transferred to a tertiary centre and required oxygen supplement initially. He was sent home after 1 week, on propanolol, with weekly oxygen saturation checks. He is awaiting further surgical intervention pending the required weight gain.

Staged repair of pentalogy of Cantrell with ectopia cordis and ventricular septal defect.

Pentalogy of Cantrell is a rare congenital anomaly characterized by a combination of severe defects in the middle of the chest and abdomen including intracardiac defects. Survival rate after cardiac surgery is extremely low. We present a successful staged complete repair of an omphalocele, a ventricular septal defect and a sternal defect in a case of pentalogy of Cantrell.

PHACES syndrome and ectopia cordis.

PHACES syndrome is a spectrum of anomalies, P, posterior fossa anomalies as Dandy-Walker malformation; H, hemangioma; A, arterial lesions of the head and neck (the most commonly detected include dysplasia, aberrant origin or course, hypoplasia, and absence or agenesis); C, cardiac abnormalities as aortic coarctation; E, abnormalities of the eye and S, sternal defect, that may be present in up to 2% of children with facial hemangiomas and 20% of children with segmental facial hemangiomas. The constellation of PHACES syndrome symptoms may vary significantly between different patients. Major and minor criteria for PHACES syndrome have been recently described in order to improve their classification and management. We report the case of a newborn with PHACES syndrome, who had additional congenital defects including ectopia cordis as the most severe form of midline defect. Although the list and variety of published cardiac malformations in PHACES syndrome are extensive, ectopia cordis has not been previously reported.

Pentalogy of Cantrell with a single-ventricle cardiac defect: collaborative management of a complex disease.

We present a case of ectopia cordis with a complex single-ventricle congenital heart defect in association with pentalogy of Cantrell. Management by a skilled multidisciplinary team was critical for patient survival. Early fetal diagnosis and the use of advanced imaging techniques allowed adequate time for planning and identified critical anatomic details. Preserving the heart's natural covering, performing cardiac surgery without cardiopulmonary bypass, and using catheter intervention decreased the risk to the patient. Complete coverage of the defect was achieved using skin generated with tissue expanders. This case illustrates the importance of collaboration when caring for infants with critical, high-risk disease and highlights the increased potential for survival with complex ectopia cordis in the current medical era.

Ectopia cordis / No disponible

No disponible