Pentalogy Of Cantrell Research Articles

P22.16: The umbilical cord in Cantrell: pentalogy or hexalogy?

Objective: Pentalogy of Cantrell (PC) is a rare congenital defect associated with five midline anomalies. The type of cardiac malformation and the size of the abdominal wall defect is often responsible for the high mortality. Of interest, the embryonic period in which PC develops is similar to that of the umbilical cord’s (UC) formation. The aim of the following study was to investigate the relationship between UC anomalies and PC. Methods: Charts of four cases with PC from 2002–08 were retrospectively reviewed for associated UC anomalies. UC anomalies were defined as single umbilical artery (SUA), short cord (during 1st trimester less than CRL or less than 30cm at term) or atypical UC coiling pattern. Results: We identified four cases: 3 singletons and one monochorionic diamniotic twin pregnancy with TRAP sequence. All cases showed a normal karyotype. All but one demonstrated the classical pulsatile omphalocele with ectopia cordis and all others anomalies of PC. One case was characterized by a major cranial omphalocele without ectopia cordis and no UC anomaly. This fetus was delivered by Cesarean at term and successfully operated on d1. In all other cases the parents requested ToP. Among the three cases with ectopia cordis, two had a short UC with SUA and one a short three-vessel cord; all these three UC were markedly uncoiled. Conclusions: Our data suggest a strong association between Cantrell and the development of the UC, in particular in cases with ectopia cordis. One might speculate that hemodynamic alterations of the feto-placental blood flow because of the cardiac malformation or structural changes at the umbilical ring (omphalocele) influence the development of the UC. More observations are needed to decide if Cantrell is a ‘‘hexalogy’’ instead of pentalogy.

Imaging feature of Cantrell's syndrome in a newborn: case report

患儿男,出生后16 d,体重4 kg.因脐部包块入院,表面可扪及血管搏动.心脏彩超提示:房间隔、室间隔缺损,表面搏动似来自左心房.行64层MS CTA,显示多种发育畸形,包括房间隔缺损(卵圆孔未闭,图1);室间隔膜部缺损(图2);左右心房、心室均有增大;胸骨下段缺损,膈肌前部存在一小缺损区,左心室尖部可见一憩室,经膈肌缺损处呈管状延伸至脐部,构成脐疝内容物,对比剂在憩室内充盈良好(图3,4)。

Twenty seven-year experience with sternal cleft repair☆

Congenital sternal cleft is a rare disease, and primary repair in the neonatal period is its best management. In 1998 we presented three surgical techniques for sternal cleft correction, but since 1999 we have elected one of them as our procedure of choice. Our latest results are now presented. It is a review of 15 patients operated from October 1979 to December 2007. Surgical repair consisted of 3 sliding chondrotomies, 10 reconstructions based on a 'posterior sternal wall', 1 reconstruction combined to Ravitch operation for pectus excavatum and 1 associated with total repair of Cantrell's pentalogy. Data concerning epidemiological features, surgical reconstruction, aesthetic results, postoperative major complications, mortality and hospital stay, were collected from hospital charts. Follow-up ranged from 4 months to 27 years. All patients submitted to surgical correction had a good aesthetic and functional result. Neither postoperative mortality nor major complication was observed. Two patients had subcutaneous fluid collection that prolonged the drainage duration. The mean hospital stay was 6 days. In conclusion, reconstructing sternal cleft with a 'posterior periosteal flap from sternal bars and chondral graft' is an effective option with good aesthetic and long-term functional results.

Abnormal Doppler Venous Waveforms in a Fetus with Pentalogy of Cantrell

We report a case of 20 weeks' gestation which was diagnosed as pentalogy of Cantrell (PC). The sonographic examination revealed part of the typical fetal anomalies, including ectopia cordis and hepato-omphalocele. Abnormal venous flow including reversed A-wave of ductus venosus (DV) and pulsatile umbilical vein and portal vein were identified by Doppler ultrasound. Fetal magnetic resonance imaging confirmed the diagnosis with additional findings of pleural effusion and increased nuchal thickness. The pregnancy was terminated by elective vaginal induction. The chromosomal karyotype of cord blood was 46, XY.

Anomalía congénita de Cantrell: a propósito de un caso

Cantrell pentalogy is a congenital anomaly that covers the thorax and abdomen and creates a spectrum of anomalies, which it is possible to find: ruptured sternum, ectopia cardis, omphalocele, diaphragmatic hernia and congenital cardiopathies. We present a case of a preterm female product, daughter of a pregnant woman 22 years old, that arrives to Clinical Cobija, with a hipogastrium pain, with pregnancy of 28 weeks, then she subjetc to a surgery, then we extracted a foetus with many congenital anomalies as: misdemeanor formation of the inferior piece sternum, abdominal wall, visible parietal pericardium. This congenital anomlies are typical of the Cantrell pentology, Then we could see anencephaly, amelia, sindactily, palate fissure and harelip, abnormal foetus membranes, foetus with movements, regular cardiac latids, onfalocele, meningocele. The patient did not present postoperative complications. .

Embryology, sternal clefts, ectopia cordis, and Cantrell's pentalogy

Sternal clefts, ectopia cordis, and Cantrell's pentalogy continue to be very rare congenital anomalies in pediatric surgery. Unfortunately, these conditions present as neonatal emergencies and demand early surgical intervention. This article reviews the embryological development of the chest wall, specific sternal defect anomalies, along with available methods of treatment.

Trisomy 18 Syndrome with Incomplete Cantrell Syndrome

The pentalogy of Cantrell was first described in 1958 by Cantrell and coworkers, who reported five cases in which they described a pentad of findings including a midline supraumbilical thoracoabdominal wall defect, a defect of the Lower sternum, abnormalities of the diaphragmatic pericardium and the anterior diaphragm, and congenital cardiac anomalies. Trisomy 18 has an incidence of about 0.3 per 1000 newborns. We present a case of trisomy 18 with incomplete Cantrell syndrome. The patient presented with hypogenesis of the corpus callosum, vermian-cerebellar hypoplasia (Dandy-Walker variant), ventricular septal defect, dextrocardia, patent ductus arteriosus, a defect of the lower sternum, a midline supraumbilical abdominal wall defect with omphalocele, congenital left posterior diaphragmatic hernia (Bochdalek hernia), micrognathia, low-set and malformed ears, rocker-bottom feet, dorsiflexed hallux, hypoplastic nails, short neck, and wrist deformity. Trisomy 18 syndrome was unusually combined with the pentalogy of Cantrell. We present this case because of its rarity and high risk of mortality.

Double-outlet right ventricle in a neonate with Cantrell's syndrome

We report a case of the association of Cantrell's syndrome with double-outlet right ventricle in a neonate.

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.

Unusual variant of Cantrell′s pentalogy?

A 12-hour-old male infant presented with prolapsed abdominal content through a defect on left side of chest wall with respiratory distress. A thorough clinical examination suggested absence of ectopia cordis, abdominal wall defect, and any bony anomaly. The child expired after 6 hours of admission because of respiratory distress and electrolyte imbalance. Is congenital defect of chest wall associated with diaphragmatic hernia without ectopia cordis and omphalocele, an unusual variant of Cantrell's pentalogy?

Ectopia cordis associated with Cantrell′s pentalogy

Cantrell's pentalogy with ectopia cordis is an extremely rare and lethal congenital anomaly, with a reported incidence of 1:100000 births in developed countries. We report a neonate who presented with ectopia cordis along with cleft lower sternum, upper abdominal wall defect, ectopic umbilicus, diaphragmatic defect, and interventricular septal defect. The neonate had respiratory distress with peripheral cyanosis and died because of acidosis and electrolyte imbalance before surgical intervention could be undertaken. We discuss the case and present a brief review of literature and of embryogenesis

Fontan operation through a right lateral thoracotomy to treat Cantrell syndrome with severe ectopia cordis

A median sternotomy would be very difficult for Cantrell syndrome with severe ectopia cordis. For Cantrell syndrome and tricuspid atresia after left modified Blalock-Taussig shunt with severe ectopia cordis, defect in the middle and inferior portion of the sternum, and the closing of ventriculo-peritoneal shunt, we performed extracardiac total cavopulmonary connection through a right lateral thoracotomy after establishing right modified Blalock-Taussig shunt and performing coil embolization of left modified Blalock-Taussig shunt by cardiologists.

Pentalogy of Cantrell

The pentalogy of Cantrell is a rare midline developmental field complex often with a dismal outcome. We present a newborn qualifying for Cantrell's pentalogy with an abdominal wall defect, a diaphragmatic defect and a heart defect, a ventricular septal defect (VSD) and a left ventricular diverticulum. Early operative correction following accurate diagnostic work-up was prompted at the age of 11 weeks because of progressive heart failure. Beside correction of the VSD and the abdominal and diaphragmatic defects, resection of the distal part of the diverticulum was possible without damage to the LAD and preserving good contractility. Two years postoperative follow-up is uneventful.

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.

Cantrell's Pentalogy in Twins: Prenatal Diagnosis

The 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.

Complete Ectopia Cordis

Complete ectopia cordis is a very rare condition. With few exceptions, it is uniformly considered fatal. Death usually occurs within the first days of life as a result of infection, cardiac failure, or hypoxemia. We report the case of a male infant with Cantrell’s syndrome. There was complete thoracic exteriorization of the heart, with cephalic orientation of the cardiac apex (Figure 1). The cardiac surface was covered by …

Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot

Tetralogy of Fallot associated with the atrioventricular canal defect has been usually reported in association with Down syndrome. The aim of the present study was to describe the cardiac aspects and the genetic anomalies in children with this association of heart defects. We identified 64 patients with atrioventricular canal defect tetralogy of Fallot. All children underwent complete cardiovascular, clinical phenotypic and genetic evaluation. A genetic syndrome or extracardiac anomalies were found in 56 patients (87.5%). Down syndrome (43 patients, 67.2%) was the most frequent genetic diagnosis. Other syndromes were 8p deletion, trisomy 13, duplication 5p, cranio-cerebello-cardiac syndrome, Cantrell syndrome, CHARGE association, VACTERL association, and DiGeorge syndrome related to maternal diabetes. No patients in our series had 22q11 deletion. Tetralogy of Fallot with extreme dextroposition of the aorta was found in seven patients (only one with Down syndrome). Additional cardiac malformations were present in 23 patients (only 11 with Down syndrome). The association between atrioventricular canal defect and tetralogy of Fallot represents a cardiac phenotype with strong genetic characteristics. For this reason, a careful genetic examination is required. Our study confirms the high prevalence of Down syndrome, but also reveals a significant genetic heterogeneity. Additional cardiac defects are prevalent in patients without Down syndrome.

Cantrell's syndrome: A report of two cases

Cantrell's syndrome: A report of two cases

Cantrell's syndrome

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Erhöhte fetale Nackentransparenz als Prädiktor für eine Cantrellsche Pentalogie - eine Kasuistik

Increased fetal nuchal translucency (NT) is not only associated with chromosomal aberrations such as Down syndrome but is also predictive for fetal malformations such as cardiac anomalies or an omphalocele. Conversely, an omphalocele can be associated with other structural or chromosomal abnormalities. Cantrell's pentalogy is a rare congenital syndrome involving a midline supraumbilical abdominal wall defect, a defect of the lower part of the sternum, a deficiency of the anterior diaphragm, a defect in the diaphragmatic pericardium and congenital heart malformation. Its prevalence amounts to 5.5 per 1 million neonates. The aetiology is still unknown. We present a case with a pentalogy of Cantrell detected by an increased NT. A 23-year-old woman, primigravida, was referred to our unit at 10 + 3 weeks gestation with an increased NT. Ultrasound scan revealed a CRL of 31.1 mm and an NT of 3.2 mm. In addition to this an omphalocele with a herniac sac involving a part of the liver was suspected. Because of these sonographic findings a chromosomal analysis (CVS) was performed. The karyotype of the fetus showed to be normal (46 XX). A follow-up scan at 13 + 3 weeks gestation demonstrated the foetal abdomen with a supraumbilical midline abdominal wall defect with a large omphalocele containing the liver and stomach as well as an ectopia cordis. The extremities, head and spine seemed to be normal. After detailed counselling about the severity of the syndrome and its dismal prognosis the couple decided for a termination of pregnancy. Autopsy confirmed the prenatal sonographic findings. Measurement of foetal nuchal translucency at first-trimester screening has become a routine procedure in the early targeted search for foetal Down syndrome and other aneuploides. Investigations showed that increased NT is also associated with cardiac malformations. As a special form of a cardiac abnormality in conjunction with an omphalocele, it seems that the pentalogy of Cantrell is facultatively also associated with an increased NT at the end of the first trimenon and should be considered in the differential diagnosis as a cause of increased NT.