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)

Class II pentalogy of Cantrell.

BACKGROUND: Pentalogy of Cantrell is a rare syndrome, first described by Cantrell and co-workers in 1958. The syndrome is characterized by the presence of five major congenital defects involving the diaphragm, abdominal wall, the diaphragmatic pericardium, lower sternum and various congenital intra-cardiac abnormalities. The syndrome has never been reported in Tanzania, although may have been reported from other African countries. Survival rate of the complete form of pentalogy of Cantrell is as low as 20%, but recent studies have reported normal growth achieved by 6 years of age where corrective surgeries were done; showing that surgical repair early in life is essential for survival. CASE PRESENTATION: The African baby residing in Tanzania was referred from a district hospital on the second day of life. She was noted to have a huge omphalocele and ectopia cordis covered by a thin membrane, with bowels visible through the membrane and the cardiac impulse visible just below the epigastrium. Despite the physical anomaly, she appeared to saturate well in room air and had stable vitals. Her chest X-ray revealed the absence of the lower segments of the sternum and echocardiography showed multiple intra-cardiac defects. Based on these findings, the diagnosis of pentalogy of Cantrell was reached. On her fifth day of life, the neonate was noted to have signs of cardiac failure characterized by easy fatigability and restlessness during feeding. Cardiac failure treatment was initiated and she was discharged on parents' request on the second week of life. Due to inadequate facilities to undertake this complex corrective surgery, arrangements were being made to refer her abroad. In the meantime, her growth and development was satisfactory until the age of 9 months, when she ran out of the medications and succumbed to death. Her parents could no longer afford transport cost to attend the monthly clinic visits, where the infant was getting free medication refill. CONCLUSIONS: The case reported here highlights that in resource limited settings; poor outcome in infants with complex congenital anomalies is a function of multiple factors. However, we believe that surgery would have averted mortality in this 9-month-old female infant. We hope to be able to manage these cases better in future following the recent establishment of cardiac surgery facilities at Muhimbili National Hospital.

Pentalogy of Cantrell: Case Report With Review of the Literature.

BACKGROUND: Pentalogy of Cantrell is a rare, congenital disorder characterized by lower sternal defects, diaphragmatic defect, pericardial defect, supraumbilical abdominal wall abnormalities, and/or intracardiac defects. The collective defects result from failure of either differentiation or migration of mesenchymal or mesodermal structures during the embryonic phase of development. Mortality of the disease complex is high, and treatment, when appropriate, revolves around surgical correction of the associated defects. PURPOSE: This article presents a case of pentalogy of Cantrell and examines the literature to report the most current evidence relative to the embryology and pathophysiology. In addition, the methods of pre- and postnatal diagnosis, management, and prognostic indicators are examined. METHODS/SEARCH STRATEGY: Case report was gathered from the medical records and is provided as it occurred. The literature was searched for evidence of best management strategies as well as care implications for families. FINDINGS/RESULTS: A female newborn was delivered at (Equation is included in full-text article.)weeks' gestation secondary to premature onset of labor. Prenatal ultrasonography identified an abdominal wall defect, diaphragmatic hernia, sternal defect, ventricular septal defect, and open neural tube defect. Examination immediately after delivery confirmed prenatal findings and a diagnosis of pentalogy of Cantrell was assigned. IMPLICATIONS FOR PRACTICE: Patients with the diagnosis of pentalogy of Cantrell should receive antenatal counseling relative to mortality and morbidity risks. An interprofessional approach in the immediate timeframe after delivery facilitates timely diagnostics and offers families prompt confirmation of antenatal findings. IMPLICATIONS FOR RESEARCH: Future research can focus on further elucidating genetic etiologies of pentalogy of Cantrell.

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.

Ectopia cordis.

We report on a preterm male newborn with complete ectopia cordis associated with Cantrell's syndrome. The neonate had an ectopia cordis involving defects of the lower sternum, supraumbilical abdominal wall, anterior portion of the diaphragm, and diaphragmatic portion of the pericardium associated with complex congenital heart defects. The infant died shortly after birth. We discuss this case and review the literature.

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

La pentalogía de Cantrell es una rara malformación congénita caracterizada por un amplio defecto de la región inferior del esternón, el diafragma y la región anterior abdominal. Se caracteriza por la migración de órganos y su pronóstico depende de la presencia de malformaciones cardiacas. Presentamos el caso de un varón de 18 años sometido a corrección programada de un onfalocele gigante. Se empleó monitorización invasiva y del gasto cardiaco para evitar (como había sucedido en dos intervenciones previas) episodios de inestabilidad por aumento de la presión intraabdominal y disminución del retorno venoso. El pronóstico depende de múltiples factores; lo más importante es el buen control hemodinámico y respiratorio. A pesar de la monitorización avanzada, la mortalidad es muy alta(AU)

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(AU)

Pentalogy of Cantrell: report of a case with consanguineous parents.

Pentalogy of Cantrell is a syndrome evidencing five anomalies: a midline, upper abdominal wall abnormality; lower sternal defect; anterior diaphragmatic defect; diaphragmatic pericardial defect, and congenital abnormalities of the heart. Its prevalence is one in every 65,000 live births and a survival rate that is low if the fall the five defects are present or the gravity of the cardiac anomalies. It may be diagnosed during the first trimester obstetric ultrasound. For postnatal care, emission-computed tomography and magnetic resonance imaging is recommended for a clear definition of the extent of the defect and to design a course of corrective surgery. Herein, a case of pentology of Cantrell is reported for a child offspring of consanguineous parents.