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.

A complete case of Cantrell's Pentalogy with isolated left ventricular diverticulum.

The congenital left ventricular diverticulum is a rare cardiac malformation, and it may associate with Cantrell's Pentalogy with other cardiac defects. However, isolated ventricular diverticulum without any other cardiac defect in complete Cantrell's syndrome is very rare. We describe a 6-year-old male patient with a complete Cantrell's syndrome with isolated left ventricular diverticulum.

Bloqueo caudal más anestesia general balanceada en un paciente con pentalogía de Cantrell, presentación de un caso clínico / Caudal block plus inhaled general anesthesia in a patient with pentalogy of Cantrell, presentation of a clinical case

The pentalogy of Cantrell is a disorder characterized by congenital abnormalities in the abdominal wall, lower sternum, anterior diaphragm, diaphragmatic pericardium, and cardiac anomalies. It is a rare disease with 250 cases registered around the world. The anesthetic implications will require a specialized management given the ventilatory mechanics and cardiac function which are compromised by the disease in the newborn. We present the case of a female patient with pentalogy of Cantrell without prenatal diagnosis, who had an operative procedure to correct patent ductus arteriosus and abdominal mesh placement under balanced general anesthesia with sevoflurane and fentanyl plus caudal block. This case is reported to provide our experience in the anesthetic management of this type of patients.

La pentalogía de Cantrell es una enfermedad caracterizada por anormalidades congénitas de la pared abdominal supraumbilical, esternón inferior, diafragma, pericardio diafragmático y anomalías cardiacas. Se trata de una enfermedad rara con 250 casos registrados alrededor del mundo. Las implicaciones anestésicas requieren de un manejo especializado debido a la mecánica ventilatoria y función cardíaca que se encuentran comprometidas en el recién nacido. Se presenta el caso de una recién nacida portadora de pentalogía de Cantrell, no diagnosticada prenatalmente, quien fue sometida a corrección de ductus arterioso persistente y colocación de malla abdominal bajo anestesia general balanceada con sevofluorano y fentanilo más bloqueo caudal. Se reporta el presente caso para brindar nuestra experiencia en el manejo anestésico de este tipo de pacientes.

Discordant Anomalies with Combined Features of Pentalogy of Cantrell and OEIS Complex: A Case Report in Monochorionic Twins.

INTRODUCTION: Ventral body wall defects have various manifestations. Among others, pentalogy of Cantrell (PC) and omphalocele exstrophy imperforate anus spinal abnormalities (OEIS) complex are defects that involve upper and lower anterior midline of body wall, respectively. Although both entities are in a spectrum of ventral body wall defects, the combination of PC and OEIS complex has not been described. CASE REPORT: In this report, we describe an unusual case of congenital ventral body wall defect with combined features of PC and OEIS complex, which discordantly occurred in monochorionic monoamniotic twins. CONCLUSION: PC and OEIS complex may be related regarding their embryologic origins. The combination may represent the most severe manifestation of ventral body wall defects.

Diagnóstico prenatal de Pentalogía de Cantrell / Antenatal diagnosis of Cantrell pentalogy

La pentalogía de Cantrell es una anomalía congénita rara que acontece 1 por 100.000 embarazos; los defectos extensos a nivel de la fusión de la línea media craneofacial, torácica y abdominal caracterizan a este cuadro con una elevada morbimortalidad. Presentamos dos casos de pentalogía de Cantrell diagnosticados en nuestro hospital a las 12 semanas de gestación, ambos en gestaciones únicas, con cariotipo 46XX y uno de ellos con el hallazgo de microdelección de cromosoma 22q11 (AU)

Pentalogy of Cantrell is a rare congenital abnormality reported in 1 per 100,000 pregnancies. Large defects in craniofacial midline fusion, as well as thoracic and abdominal defects, are the main features of this syndrome that entails high morbidity and mortality. We present two cases of pentalogy of Cantrell identified in our hospital at 12 weeks of pregnancy. Both were singleton pregnancies, with 46XX karyotype, and one of them with a microdeletion in chromosome 22q11. We describe the clinical maternal characteristics, as well as the most relevant ultrasonographic findings (AU)

One-stage surgical treatment for Cantrell syndrome without repairing the left ventricular diverticulum: a case report.

Cantrell syndrome includes the defects of the heart, pericardium, diaphragm, abdominal wall, and sternum. The operative mortality is usually high. We report here a one-stage surgical correction in a case of Cantrell syndrome with left ventricular diverticulum.

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.

Pentalogía de cantrell incompleta / Cantrell pentalogy incomplete

La Pentalogía de Cantrell es una rara y a menudo fatal anomalía congénita de 5 estructuras asociadas: pared abdominal, esternón, diafragma, pericardio y corazón. La etiología exacta aún es desconocida, pero el síndrome es considerado de causas heterogéneas. Reportamos el caso de un feto femenina con una Pentalogía de Cantrell incompleta ((clase II) que presentó: ectopía cordis, fisura esternal y onfalocele.

Pentallogy of Cantrell is a rare and often fatal congenital abnormality of 5 associated structures: the abdominal wall sternum, diaphragm, pericardiun and heart. The exact acuse remains still unknown, but the syndrome is considered to be of heteterogeneus origin. We report a case of a female fetus with a incomplete(class ll) Pentalogia odf Cantrell presenting ectopia condis, sternal cleft and omphalocele.

Novel two-stage surgical treatment for Cantrell syndrome complicated by severe pulmonary hypertension: a case report.

INTRODUCTION: Cantrell syndrome is a rare syndrome of congenital defects, which can be complicated by severe pulmonary hypertension and left ventricular diverticulum; it has proved difficult to treat in clinical practice. CASE PRESENTATION: A 6-month-old Han Chinese baby girl weighing 3.5 kg was diagnosed, using ultrasonography and radiography, as having Cantrell syndrome complicated by severe pulmonary hypertension. For safety, we divided management into two stages. For the first stage, we dealt with the left ventricular diverticulum and pulmonary hypertension. Three months later, we performed diorthosis for an intracardiac malformation. CONCLUSIONS: Cantrell syndrome with pulmonary hypertension may respond well to this novel two-stage operation, which needs more verification via clinical practice.

One-stage surgical correction in pentalogy of Cantrell with left ventricular diverticulum.

The pentalogy of Cantrell is a rare and fatal malformation. A left ventricular diverticulum is a common finding of this pentalogy. The present report summarizes our experience with three patients who suffered from pentalogy of Cantrell. All three cases had a left ventricular diverticulum. The intracardiac malformations and the left ventricular diverticulum were corrected simultaneously. All patients recovered uneventfully. One-stage surgical correction could improve short-term outcomes in selected patients with pentalogy of Cantrell.

Pentalogy of Cantrell associated with exencephaly and spinal dysraphism: antenatal ultrasonographic diagnosis. Case report.

The pentalogy of Cantrell, a rare syndrome, consists of the defects in the anterior diaphragm, diaphragmatic pericardium, lower sternum and supraumbilical abdominal wall, along with congenital cardiac abnormalities. Till date, only few patients with full spectrum of this syndrome have been reported with only 2 cases showing associated exencephaly and spinal dysraphism. We report extremely rare association of complete pentalogy of Cantrell syndrome with exencephaly and spinal dysraphism on antenatal sonogram and autopsy in a 18 weeks fetus of a 19 year-old primi gravida female.

Cantrell's Syndrome with left ventricular diverticulum: a case report.

Congenital left ventricular diverticulum is a rare condition. When found, it is usually accompanied by other intracardiac malformations, so that again further examination is indicated. Furthermore, it is usually associated with thoracoabdominal wall defect, as seen in the spectrum of Cantrell's pentalogy, a congenital anomaly consisting of a lower sternal defect, diastasis recti, pericardial defect, anterior diaphragmatic hernia and cardiac malformation. This paper reports a case of Cantrell's Syndrome with left ventricular diverticulum. Successful total correction of ventricular diverticulum, ventricular defects and diastasi recti, was performed at two years of age. The clinical features, ambryology and surgical management of these defects are discussed.

Transcatheter right ventricular outflow tract stent implantation in a child with pentalogy of Cantrell, double outlet right ventricle, and severe pulmonary stenosis.

We described a 5-week-old boy with dextrocardia, double outlet right ventricle, and severe pulmonary stenosis with pentalogy of Cantrell. There was a defect within the sternum, diaphragm, and a prominent left ventricular diverticulum. Hypercyanotic spells developed with desaturation to 50%. Two Vision coronary stents were implanted in the right ventricular outflow tract with a significant improvement in oxygen saturation to 85%. This represents the first report of transcatheter pulmonary stent implantation as a form of palliation in a child with pentalogy of Cantrell.

[Giant omphalocele correction in a patient with pentalogy of Cantrell]. / Corrección de onfalocele gigante en un paciente con pentalogía de Cantrell.

Pentalogy of Cantrell is a rare congenital malformation characterised by a large defect in the lower region of the sternum, diaphragm, and lower abdominal region. It is also characterised by the migration of organs, and its prognosis depends on the presence of cardiac malformations. We present the case of an 18 year-old male subjected to a scheduled giant omphalocele correction. Invasive monitoring, including cardiac output, was used to avoid episodes of instability due to the increase in abdominal pressure and the increase in venous return (as had happened on two previous operations). The prognosis depends on multiple factors, with good haemodynamic and respiratory control being the most important. Mortality is high despite the advances in monitoring.

Malformaciones cardiacas en pacientes con pentalogía de Cantrell y ectopia cordis / Cardiac malformations in patients with pentalogy of cantrell and ectopia cordis

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[Cardiac malformations in patients with pentalogy of Cantrell and ectopia cordis]. / Malformaciones cardiacas en pacientes con pentalogía de Cantrell y ectopia cordis.

We studied 21 patients who presented with a diagnosis of pentalogy of Cantrell. Their mean age was 40 days. All patients presented with congenital heart disease. Six presented with ectopia cordis. Every patient was subjected to echocardiography. Double outlet right ventricle, an atrial septal defect and dextrocardia were seen in 5 patients (24%). Four patients survived. Seventeen died, 12 from sepsis or septic shock. Autopsies were performed on 10 patients. All of the ectopia cordis patients died. Pentalogy of Cantrell is uncommon, and its association with ectopia cordis indicates poor prognosis. Full English text available from: www.revespcardiol.org.

Ectopia cordis with tetralogy of Fallot in an infant with pentalogy of Cantrell: high-pitch MDCT exam.

We report the MDCT findings of a 17-month-old girl with Cantrell's pentalogy, a rare congenital disease characterized by several defects in the ventral thoracoabdominal wall including ectopia cordis, and, in this patient, associated with tetralogy of Fallot. This case provides an example of the utility of a wide volume in coverage and high-pitch MDCT scan in the evaluation of complex cardiovascular anatomy in infants with congenital heart disease without the need of an ECG-gating acquisition.

Pentalogy of Cantrell with left ventricular diverticulum: a case report and review of literature.

Pentalogy of Cantrell is a rare congenital anomaly involving deficiency of the following structures: anterior diaphragm, supraumbilical abdominal wall, diaphragmatic pericardium, lower sternum, and associated congenital intracardiac abnormality. We describe a 3-month-old child with this syndrome having left ventricular diverticulum along with omphalocele who presented to us with a pulsating mass in the epigastrium. The defect was evaluated and defined by computed tomography scan. A team of pediatric, cardiac, and plastic surgeons successfully repaired the defects. This case report discusses the review of literature along with management options and concludes that there must be an emphasis on early repair of left ventricular diverticulum to prevent complications. Antenatal ultrasound can also detect the anomaly, and early postnatal diagnosis of the syndrome, followed by immediate surgical repair, can prevent lethal complications.

Prenatal diagnosis of vertebral deformities associated with pentalogy of Cantrell: the role of three-dimensional sonography?

Pentalogy of Cantrell was diagnosed in a fetus at 14 weeks of gestation, on routine two-dimensional sonographic examination with Doppler imaging, which revealed a midline supraumbilical abdominal wall defect including herniated liver, an ectopia cordis without intracardiac anomalies, and a large omphalocele containing intestines. Although left unilateral club foot deformity was also detected as an associated anomaly in the same examination, severe lumbar lordoscoliosis was only detected by using three-dimensional sonography because of the spatial configuration of the deformity. After termination of the pregnancy, postnatal inspection of the fetus confirmed the diagnosis of pentalogy of Cantrell associated with skeletal deformities and revealed low implant ears as an additional finding. Although two-dimensional sonography with Doppler imaging is sufficient to diagnose pentalogy of Cantrell, it may fail to show the complex vertebral deformities and three-dimensional sonography may assist in visualizing the defect accurately.