Anterior Diaphragmatic Defect Research Articles

Complete Pentalogy Of Cantrell: Case Report And Review Of Literature

Introduction: Pentalogy of Cantrell (POC) is a rare congenital anomaly with two sub-categories: complete or partial. Complete has all five defects (anterior diaphragmatic defect, ventral abdominal wall defect, pericardial defect, intracardiac anomalies, and lower sternal defect). The first documented case was described by Cantrell et al. in 1958. Both sporadic and genetic causes have been proposed for POC, with a reported incidence of 5 - 10 cases per one million live births and various clinical presentations. The prognosis of POC depends on the severity of the defects and the associated cardiac anomalies. This case report seeks to increase awareness of this condition, emphasize the need for appropriate counselling in our environment, and review the literature on previous reported cases’ outcomes. Case Presentation: A 5-hour-old term female neonate was referred to our Children Emergency Center with multiple defects (ectopia cordis, sternal cleft, omphalocele, and limb abnormalities) with dysmorphic facies. A diagnosis of POC was made, and multidisciplinary management was instituted. The eviscerated heart and epigastric omphalocele were dressed and evaluated for palliative surgical care. However, she developed complications with sepsis and electrolyte derangements and died from multi-organ failure before any surgical intervention could be carried out. Conclusion: Though rare, the Pentalogy of Cantrell in its classical form does occur in our environment. The presence of extracardiac and limb deformities worsens the outcome. Based on poor outcomes, there is a need to emphasize appropriate antenatal and postnatal assessments to provide effective counselling on termination, neonatal palliative care, and surgical repairs as appropriate.

A rare autopsy case of pentalogy of Cantrell with tetralogy of Fallot and olfactory bulb agenesis

Abstract Introduction/Objective Pentalogy of Cantrell is an uncommon congenital disorder characterized by sternal, diaphragmatic, pericardial, intracardiac and supraumbilical abdominal or chest wall defects. It is usually associated with other abnormalities and thus poses a therapeutic challenge, with a high mortality rate despite early diagnosis. Methods/Case Report This is an autopsy case of a 1 day old, former 37-week-old male infant with a prenatal diagnosis of incomplete pentalogy of Cantrell including omphalocele, ectopia cordis, pleural effusions, cardiac anomalies and polyhydramnios who was delivered via elective cesarean section. Maternal history included tobacco use during pregnancy, multiple psychiatric disorders, and a family history of an unbalanced translocation. The infant required intubation, ventilation, and chest tube insertion at birth due to respiratory distress. He also developed pneumoperitoneum which had to be decompressed. Within 24 hours the infant passed, despite advanced care. On autopsy, external examination showed central and peripheral cyanosis and a large omphalocele containing the heart, parts of the liver and intestines. Initial internal examination revealed a hypoplastic left lung, anterior diaphragmatic defect and absence of the pericardium. Organ dissection post-fixation showed an overriding aorta, pulmonic stenosis, subaortic valve ventricular septal defect and right ventricular hypertrophy, all components of tetralogy of Fallot. On brain examination, the olfactory groove and bulb were both absent. Examination of the placenta and 3 vessel cord revealed no abnormalities. Chromosomal microarray analysis on cord blood was normal. Conclusion The spectrum of defects seen in this disease complex has been postulated to be due to failure of differentiation or migration of mesenchymal structures during embryonic development but ultimately, this entity is not well understood. Identifying various disease associations through autopsies can help to establish possible etiologies, and options for therapeutic interventions or screening.

Pentalogy of Cantrell: A case report of probable pentalogy of Cantrell in a full-term neonate

Background: Pentalogy of Cantrell (PC) is an extremely rare congenital anomaly which was first described in 1985. The incidence of the PC has been reported to vary from 5.5-7.9 cases per million live births. This anomaly involves diaphragmatic pericardial defects, lower sternal defect, intracardiac anomalies, ventral abdominal wall abnormality, and anterior diaphragmatic defect. Considering the number of presented anomalies, PC is classified into three groups of certain, probable, or incomplete pentalogy. Although the etiology of PC is unknown, it has been assumed that abnormalities in intra embryonic mesodermal differentiation formation and migration at around 14-18 days after conception are responsible for the anomalies observed in PC. The prenatal diagnosis of the PC can be made via prenatal two-dimensional or three-dimensional ultrasound. Case report: This case report investigated an Iranian 2-hour-old full-term neonate who was referred to Imam Reza Hospital, Kermanshah, Iran, due to respiratory distress and abdominal wall defect. The patient was finally diagnosed with a probable PC, although his prenatal investigations were considered normal. Conclusion: Although ultrasonography is a widely available tool for prenatal diagnosis of PC, as in our case, the absence of ectopic heart and omphalocele makes the prenatal diagnosis of PC via ultrasonography less possible. Keyword

The Pentalogy of Cantrell: A Case Report

Pentalogy of Cantrell (PC) is a rare anomaly marked by the coexistence of omphalocele and ectopia cordis. Pentalogy of Cantrell comprises of the following five characteristics: midline, upper abdominal wall disorder (e.g. omphalocele, gastroschisis); defect of lower sternum (i.e. cleft sternum or absent sternum); anterior diaphragmatic defect (i.e. hypoplastic diaphragm, anterior diaphragmatic hernia); pericardial abnormality (e.g. ectopia cordis); congenital abnormalities of the heart (e.g. tetralogy of Fallot, ventricular septal defect, atrial septal defect). Toyama classified this syndrome into: class I – the occurrence of all 5 defects; class – II the occurrence of 4 defects with intracardiac and ventral abdominal wall abnormalities definitely present; class III – an incomplete expression of the disorders showing various combinations of defects, although sternal anomalies are definitely present. The incidence is estimated 5.5 – 7.9 per 1 million live births with male predominance. PC can be diagnosed since antenatal through ultrasonography examination. Unfortunately, the mortality rate is quite high with minimal survival rate even with surgical reconstruction. We present a case of one-day old infant whom was referred from West Nusa Tenggara with suspicion of PC syndrome and neonatal pneumonia. The baby was born through cesarean section with mild asphyxia, birth weight was 3000 gram and body length was 48 cm. There was no family and pregnancy risk factor. The multidisciplinary team consist of neonatologist, pediatric cardiologist and pediatric surgeon was teamed up to handle this case. There were some abnormalities in complete blood counts such as decreasing number of lymphocyte and neutrophil percentage and also increasing basophil percentage. Chest and abdominal X-ray showed a suspicion of pneumonia but this didn’t align with our physical examination. Echocardiography showed the infant had congenital heart defects such as Taussig Bing anomaly, single atrium, mild valvular pulmonary stenosis, mild tricuspid regurgitation and mesocardia. Genetic testing and further radiologic examination other than plain X-ray were not done in this case. There was no further intervention for this patient other than regular echocardiography and antibiotic topical treatment.

LATE PRESENTING CONGENITAL DIAPHRAGMATIC HERNIA – A CASE SERIES

With an incidence of 1 to 2500 to 1 to 5000 births, congenital diaphragmatic hernia (CDH) can be a life-threatening condition. In 5-25% of the cases, CDH can present at older ages with non-specific signs and symptoms. The aim of our study was to assess the clinical aspects, the diagnosis and management of the patients with this affliction as well as increase the level of awareness on late-presenting CDH. Five patients older than 1 year of age at the moment of diagnosis of CDH were included in the study. The patients presented either for respiratory symptoms or gastrointestinal one. In all the cases, during initial assess, plain chest or abdominal x-rays were performed leading to the diagnosis of congenital diaphragmatic hernia. After further imaging studies (CT scans, ultrasound) all the patients underwent surgery for defect closure, 3 of them by the classic approach, 1 by laparoscopy and 1 by thoracoscopy. Three patients had left diaphragmatic defect and 2 had an anterior diaphragmatic defect. We extensively present the case of a 14-year-old female patient with a posterolateral diaphragmatic defect, in which gastric necrosis was found during surgery, leading to partial gastric resection and esogastric anastomosis. In this case, the postoperative evolution was critical and thepatient died in the 9th day postoperatively. The evolution of the other 4 patients was uneventful.

Successful atrial septal defect transcatheter closure in a patient with pentalogy of Cantrell and ectopia cordis.

Pentalogy of Cantrell (PC) is an extremely rare multiple congenital anomaly syndrome, characterized by the presence of five major malformations: midline supraumbilical abdominal wall defect (which results in omphalocele), lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations (mostly ventricular septal defect) [1]. Additionally, although not part of the classic PC, some severe cases have been associated with herniation of the heart through the diaphragmatic defect, resulting in ectopia cordis (EC) [2]. Such a diagnosis carries a disastrous prognosis without surgical correction or palliation [3]. Furthermore, miscellaneous intracardiac abnormalities even worsen the survival. Multiple chest interventions and complex anatomy impede their surgical treatment; therefore, the transcatheter approach may be the only possibility. According to our best knowledge, no percutaneous atrial septal defect (ASD) closure has been reported in a patient with PC.

Laparoscopic transabdominal Morgagni hernia repair

Morgagni hernias are a rare finding in the adult population and represent 1%–3% of all congenital diaphragmatic hernias. Multiple approaches to these rare hernias have been described in the literature. Here, we present a novel technique of laparoscopic transabdominal repair using a combination of the Endo-Close device (Medtronic, Minneapolis, MN, USA) and the Ti-KNOT (LSI Solutions, Victor, NY, USA). In a patient with a large left anterior diaphragmatic defect, we performed transabdominal suturing utilizing the Endo-Close to perform primary closure of the defect, using the Ti-KNOT to secure the pledged sutures along the anterior fascia. Due to the size of the defect (7 cm × 10 cm), this primary repair was buttressed with polyester mesh. In a second patient with a smaller (6 cm × 8 cm) classic right-sided anterior diaphragmatic defect, we similarly performed laparoscopic transabdominal suturing using the Endo-Close to traverse both the anterior and posterior fascia and the Ti-KNOT to secure the sutures to perform a primary repair of the hernia. Both patients presented had an uneventful postoperative course and no indication of recurrence at 4 months. Morgagni hernias present unique technical challenges. In our experience, the combined use of transabdominal suture with laparoscopic knot placement device allowed for completion of both cases laparoscopically with minimal tension on the repairs.

Cantrell五联症新生儿一例并文献复习

患儿出生后即发现“胸外心”入院，母亲妊娠期有糖尿病、孕早期感冒，无贫血、妊娠高血压综合征、心脏病等疾病，无家族遗传及代谢性疾病。入院查体：胸骨下端至脐部皮肤变薄，长约6 cm，见一膨出物约2 × 2.5 cm2规律搏动，皮肤颜色较周围皮肤颜色深，脐部位置偏高，腹部平坦。B超和CT诊断结果显示，该患儿胸骨缺损、心包部分缺损、膈肌前部缺损、脐上腹壁中线缺如伴心脏膨出、心血管畸形，因此明确诊断为完全Cantrell五联症。患儿为部分心脏异位，属于常见的胸腹型心脏异位。Cantrell五联症是临床上一种罕见的先天性畸形疾病，临床手术难度大，患儿生存率低。产前超声筛查对早期发现及诊断该病具有重要意义。 The patient had been discovered with ectopia cordis after birth. His mother’s history of pregnancy and childbirth were as follows: having diabetes, early pregnancy with “catching cold”, no anemia, no pregnancy hypertension syndrome, no heart disease and other diseases. In addition, there were no metabolic diseases and familial hereditary. Physical examination on admission showed the following. The patient’s skin from the bottom of the sternum to the umbilicus was thinner than that of the surrounding, and the skin was about 6 cm; it can be seen that a bulging about 2 × 2.5 cm2 was regularly pulsing, and the color of the skin was deeper than that of the surrounding skin; the position of the umbilical region was high, and the abdomen was flat. Moreover, ultrasound and CT diagnosis revealed that the patient had sternal defect, pericardium defect, anterior diaphragmatic defect, midline deficiency of epigastric wall of the umbilicus, cardiovascular abnormalities; therefore the child was diagnosed as completely pentalogy of Cantrell. The child was partly heterotopic of the heart, which is a common thoracic and abdominal type of heart ectopia. Pentalogy of Cantrell is currently a clinically rare congenital mal-formation disease, thus clinical surgery is difficult and the survival rate is low. And prenatal ultrasound screening is of great significance for the early detection and diagnosis of the disease.

Case Report: Congenital diaphragmatic hernia with liver herniation into the pericardium in a 30-week gestation infant.

Anterior diaphragmatic defects with pericardial involvement are extremely rare and diagnostically challenging entities encountered perinatally. While a majority of diaphragmatic defects occur in isolation, others are associated with multiple defects forming a complex of syndromes such as Pentalogy of Cantrell. Liver herniation into the pericardial sac poses a particular challenge and can mimic a pericardial tumor on prenatal ultrasound, yielding a different management course. The following case is an unusual presentation of a 30 week gestation female with an anterior diaphragmatic defect with liver herniation mimicking as a pericardial tumor, diagnosed at time of autopsy. Postmortem studies also found multiple congenital anomalies including an atrioventricular defect and midline gumline defect suggesting at least a partial Pentalogy of Cantrell or variant. Early recognition and screening for associated anomalies are essential for management in this subset of patients.

Volvulus of the liver with intrathoracic herniation

We present a rare case of a liver volvulus, stomach and transverse colon herniating through the diaphragm. This scenario has not been reported previously. We discuss the presentation and management of this interesting case. A 65-year-old woman with a history of sarcoidosis and recurrent pericardial effusions, treated previously with a subxiphoid pericardial oval window fenestration, presented with acute upper abdominal pain radiating to the chest. High contrast computed tomography showed a volvulus of the liver with consequent venous congestion, and herniation of the liver, stomach and transverse colon through an anterior diaphragmatic defect. With liver perfusion threatened, an urgent laparoscopic repair was performed. The stomach and transverse colon were reduced, and the twisted left lobe of the liver was unrotated and reduced into the abdominal cavity. A double-sided synthetic mesh was used to repair the defect. The patient made an uneventful recovery. This is a novel complication of a patient presenting with abdominal pain with a previous history of pericardial window fenestration. A laparoscopic reduction and repair can be performed safely with excellent postoperative results.

Catamenial pneumothorax with diaphragmatic defects associated with Morgagni hernia

The association between catamenial pneumothorax (CP) and Morgagnian hernia (MH) has never been reported to our knowledge. The presence of anterior diaphragmatic defect could be part of a delayed presentation of MH or part of diaphragmatic involvement in diffuse endometriosis. Such a case highlights the wide variation inthe presentations of thoracic endometriosis. Morgagni described a substernal herniation of abdominal contents in 1769. Larrey described a surgical approach addressing the anterior diaphragmatic defect in 1828 [1]. Synonyms for MH include retrosternal hernia, subcostosternal hernia, and Larrey’s hernia [1]. CP is considered to be a sequel to thoracic endometriosis. Schwarz described lung parenchymal endometriosis in 1938 [2]. In 1958, Maurer described CP and later in 1972, and Lillington coined the name [3]. The ongoing flow of literature over the years has contributed to better understanding of this entity evidenced by the many theories of etiology and various treatment approaches. Theories presented over the years include retrograde menstruation through lymphatics or hematogenous spread as described by Schron and Ruysh [2]. Maurer described the intraperitoneal air theory in 1958 followed in 1972 by Lillington who described the subpleural implants theory [4]. Rossi and Goplerud in 1974 described the Prostaglandin F2α and its bronchvascular spasm effect in the pathogenesis of CP [4]. Sloughing and desquamation of these endometrial tissues cause the rupture of bullae and blebs or creation of diaphragmatic defects. Here, we raise the speculation of acquired MH due to the sloughing effect or being a genuine case of associated congenital diaphragmatic hernia.

Case report: Pentalogy of cantrell

Pentalogy of Cantrell is a type of ectopia cordis including: defect in anterior diaphragm, pericardium, anterior abdominal wall in addition to extrusion of part of the heart outside the mediastinum and structural heart disease. We were faced by a case of 2 years old girl presented by a visible large pulsating swelling in the lower part of the chest and upper part of anterior abdominal wall in addition to other manifestations of pulmonary congestion and heart failure. After echocardiography, MSCT was done for completing the diagnosis, the cardiac lesion was a large apical VSD with biventricular dilatation and the apex of the heart forms a long tail like swelling passing through a large anterior pericardial and diaphragmatic defect to lie under the anterior abdominal wall. Under full CPB and cardioplegic arrest; the excess aneuresmal part of cardiac apex was excised and the Apical VSD was closed the aneuresmectomy opening because it was in accessible through the RT atrium. The PT needed high inotric support, prolonged ventilation and ICU stay and discharged on day 15 with maximized medical treatment because the ICU and pre discharge echo shows only minimal improvement of the already severely impaired myocardial function EF ∼ 30% and severe PH.

Ectopia Cordis and Pentalogy of Cantrell: Report of Two Cases

Ectopia cordis (EC) is the presence of a live, beating heart outside the thorax and is one of the most unique congenital anomalies. EC has been a weak association noted with trisomy 18 and a few cases have been associated with other chromosomal abnormalities. Pentalogy of cantrell (PC) is a rare congenital syndrome of abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect, and intracardiac abnormalities. It has a rare frequency of about 1/100,000 births. The hallmark of this syndrome is an omphalocele associated with EC. Only a few patients with the full spectrum of the pentalogy have been described. Only very few patients survive attempts at surgical repair, the main causes of death being tachyarrhythmias, bradycardia, low blood pressure, rupture of the diverticulum, and heart failure. Early diagnosis is important about discuss the option of elective termination with the parents if intracardiac anomalies of incompatible with life are noted. We report two cases of PC diagnosed in early second trimester.

Left Ventricle Diverticulum with Partial Cantrell's Syndrome.

Cantrell syndrome is a very rare congenital disease associating five features: a midline, upper abdominal wall disorder, lower sternal abnormality, anterior diaphragmatic defect, diaphragmatic pericardial abnormality, and congenital abnormalities of the heart. In this paper, we report a case of partial Cantrell's syndrome with left ventricular diverticulum, triatrial situs solitus, ventricular septal defect, dextrorotation of the heart, an anterior pericardial diaphragmatic defect, and a midline supraumbilical abdominal wall defect with umbilical hernia. The 5-month-old patient underwent a successful cardiac surgical procedure. A PTFE membrane was placed on the apex of the heart to facilitate reopening of the patient's chest. Postoperative course was uneventful. The patient was discharged with good clinical condition and with a normal cardiac function.

Pentalogía de Cantrell en el primer gemelo de un embarazo gemelar monocigótico: presentación de un caso y revisión de la literatura

Introducción: la Pentalogía de Cantrell (PC) se compone de cinco anomalías: defecto superior de pared abdominal, defecto esternal inferior, defecto diafragmático anterior, defecto pericárdico diafragmático y anormalidades del corazón. Cerca de 250 casos han sido reportados, solo 6 involucran gemelos, y de estos 4 describen discordancia de esta anomalía.Objetivo: realizar la presentación de un caso de PC asociado a embarazo gemelar y la revisión de la literatura de esta asociación con énfasis en el diagnóstico prenatal y la etiología.Materiales y métodos: se presenta un caso de Pentalogía de Cantrell que afecta solo al primer gemelo de un embarazo gemelar monocigótico, se realizó una búsqueda de la información en las bases de datos SciELO y PubMed con la terminología MeSH "Pentalogy of Cantrell", "twin" y en español "Pentalogía de Cantrell" y "gemelar".Conclusión: la PC puede ser sospechada ecográficamente por ectopia cordis y defecto toracoabdominal. La presentación de un caso en un embarazo gemelar es una asociación poco frecuente.

Pentalogía de Cantrell: reporte de un caso de padres consanguíneos

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.

Pentalogy of Cantrell: six new cases

Cantrell's pentalogy is a rare multiple malformation syndrome consisting of supraumbilical abdominal wall defect, sternal defect, pericardial defect, anterior diaphragmatic defect and heart malformation. Prenatal ultrasound findings and malformations described during autopsy of the Cantrell's pentalogy cases diagnosed between January 1991 and June 2009 in our institute were reviewed. A literature research was conducted to analyze the prevalence and prenatal detection rate of the five previously described malformations and ectopia cordis in the Cantrell's pentalogy cases. Six cases of Cantrell's pentalogy were diagnosed during the study period in our department. Sonography detected multiple malformations in 3 cases, and isolated malformation in 3 cases. Analyzing the data of 49 Cantrell's pentalogy cases altogether showed that, beside abdominal wall defect and ectopia cordis which had the highest prenatal detection rate (83% and 91% with a prevalence of 94% and 69%, respectively), sternal defect and anterior diaphragmatic hernia were also present in a large number of the cases (80% and 73% respectively). Sonographic identification of the sternal defect or diaphragmatic hernia may help to differentiate Cantrell's pentalogy from malformations part of the syndrome but occurring as isolated defects.

MORGAGNI’S HERNIA: BELIEVING IS SEEING

The original description by Morgagni of the anterior diaphragmatic defect that bears his name implies a paramedian defect and this may be true when acquired in adulthood. In contrast, the anterior diaphragmatic defect that is observed in children is central rather than paramedian, as is often assumed. Its central retrosternal location has been confirmed by various methods, but is most clearly evident on laparoscopy.

Chest wall reconstruction in a patient with Cantrell syndrome

Cantrell syndrome is a very rare congenital anomaly with up to five features: a midline, upper abdominal wall abnormality, lower sternal defect, anterior diaphragmatic defect, diaphragmatic pericardial defect, and congenital abnormalities of the heart. This report describes our experience of performing a reconstruction of a chest wall defect in a Cantrell syndrome case with herniation of the heart. The patient was a 1-month-old female infant who received surgical patch repair of a ventricular septal defect (VSD) and atrial septal defect (ASD) at the Department of Cardiac Surgery. Subsequently, the patient underwent reconstruction at the second-stage surgery. A rhomboid skin flap with an inferior pedicle was used to close the defect. In this process the flap, including portions of the rectus abdominis muscles, was elevated and transferred into the defect. The sectioned ends of the divided pectoralis major muscles were sutured together to simultaneously reconstruct the muscles. It has been 2 years since the surgery, and the defect is covered with normal skin, and the protrusion of the heart from the chest wall and the externally visible pulsation have been resolved. The progress has been very good functionally and cosmetically.

Cantrell's Pentalogy in Twins: Prenatal Diagnosis

AbstractThe combination of an onphalocele, an anterior thoracic wall defect and an anterior diaphragmatic defect constitutes classical Cantrell's pentalogy. We present a case of Cantrell's pentalogy diagnosed prenataly in twins with conventional and three-dimensional sonography.