Pentalogy of Cantrell: a case report

Patil, Aruna R; Praveen, L S; Ambica, V

doi:10.1259/bjrcr.20140002

Cited by 8 publications

(13 citation statements)

References 3 publications

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“…Pentalogy of Cantrell (POC) is an extremely rare and severe congenital anomaly, first reported by James R Cantrell in 1958 [ 1 ]. This syndrome has an estimated incidence of 5.5 per million births with a 2:1 male to female predominance [ 2 , 3 ]. This syndrome consists of a midline anterior ventral wall defect, a defect of anterior diaphragm, a cleft distal sternum, a defect of apical pericardium with communication into the peritoneum, and an intracardiac defect [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

“…This syndrome is considered to be of heterogeneous origin caused by numerous factors including gene mutation, chromosomal abnormalities, physical and chemical teratogens [ 8 ]. Some investigators have proposed BMP2 (bone morphogenetic protein 2) gene mutations as a likely cause of this condition since these genes are responsible for the normal development of midline structures [ 3 , 9 ]. Also, more recently, the role of ALDH1A2 (Aldehyde Dehydrogenase 1 family, member A2), which is located in chromosome 15 has been implicated in the causation of POC.…”

Section: Discussionmentioning

confidence: 99%

“…ALDH1A2 encodes the enzyme retinaldehyde dehydrogenase type 2, which is critical for the conversion of vitamin A into all trans-retinoic acid. Retinoic acid is a very vital morphogen for organogenesis including its important role in the pleuroperitoneal folding in diaphragm embryogenesis [ 3 , 10 ].…”

Section: Discussionmentioning

confidence: 99%

“…Apart from the midline anterior ventral wall defect, a defect of anterior diaphragm, a cleft distal sternum, a defect of apical pericardium with communication into the peritoneum, and an intracardiac defect, POC is known to be associated with numerous other anomalies like cleft lip, cleft palate, encephalocele, hydrocephalus, craniorachischisis, thoracoabdominal organ abnormalities include pulmonary hypoplasia, adrenal hypoplasia, gallbladder agenesis, single renal agenesis, polysplenia, malrotation of the colon, herniation of bowel into pericardium, bladder exstrophy, undescended testes and bilateral inguinal hernia, and limb defects include club foot, absence of tibia, radius and hypodactyly [ 3 , 11 ]. The intracardiac anomalies in POC comprise of ventricular septal defects, Ebstein’s anomaly, truncus arteriosus, transposition of great vessels, single atrium, atrioventricular canal, an atrial septal defect, a left ventricular diverticulum, tetralogy of Fallot, a double-outlet right ventricle, and hypoplastic left heart syndrome [ 3 , 12 ].…”

Section: Discussionmentioning

confidence: 99%

“…Surgical correction of the abdominal wall defect is done in less complicated cases. In complicated cases of POC with ectopia cordis, surgical correction is often difficult due to hypoplasia of the thoracic cage and inability to enclose the ectopic heart [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

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A Recurrent Case of Pentalogy of Cantrell: A Rare Case with Sonological Findings and Review of Literature

Satya¹,

Mayilvaganan²,

Prathyusha

et al. 2018

Pol J Radiol

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SummaryBackgroundPentalogy of Cantrell (POC) is an extremely rare and complex congenital anomaly. Ultrasound is a valuable, safe, nonionizing, cost effective, widely available, and easily reproducible imaging tool and is indispensible in the diagnosis of POC. Despite the rarity of POC, it is imperative for a radiologist to be aware of its wide spectrum of presentation on ultrasound in first trimester of gestation. Most reported cases in literature till now have been sporadic. In this paper, we aimed to report for the first time in literature, a recurrent case of POC detected in the first trimester in a mother whose previous pregnancy also was terminated in the second trimester medically due to the ultrasound diagnosis of POC. We also discuss the role of ultrasound and other imaging modalities in a case of POC as well as the differential diagnoses which can mimic POC.Case ReportA 23-year-old G2P0A1 (Gravida2, para0, abortion1) woman with a gestational age of around 12 weeks was referred for a routine first trimester ultrasound scan. The antenatal ultrasound scan showed a single, live, intrauterine gestation corresponding to a gestational age of 11 weeks and 5 days. The fetal heart was visualized outside the chest through a defect in the lower sternum in association with anterior diaphragmatic and ventral abdominal wall defects suggestive of thoraco-abdominal variety of ectopia cardis. There was a membrane covered, midline, abdominal wall defect at the base of the umbilical cord insertion containing the herniated abdominal organs including the liver, bowel loops and the ectopic cardia. There was a breach in the normal outline of the lower sternum indicating a sternal deficiency. The fetal pericardium was absent. The nuchal translucency was grossly increased. Pentalogy of Cantrell was diagnosed on ultrasound and the patient was explained about the poor prognosis of this condition. An informed consent was obtained after she opted for medical termination of pregnancy. The autopsy confirmed all the above mentioned ultrasound features.ConclusionsPentalogy of Cantrell (POC) is an extremely rare and complex syndrome of numerous fetal anomalies but should always be borne in the mind during the ultrasound evaluation of either of an omphalocele, ectopia cordis, distal sternal defect, pericardial defect, anterior diaphragmatic defect or intracardiac anomalies. Ultrasound is a valuable, safe, nonionizing, cost effective, widely available, and easily reproducible imaging tool for diagnosis of POC. Ultrasound should always be the primary mode of diagnosis in POC because although Magnetic resonance imaging (MRI) can help in better delineation of fetal anomalies, it does not significantly alter the course of the pregnancy or the management of POC.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

A Recurrent Case of Pentalogy of Cantrell: A Rare Case with Sonological Findings and Review of Literature

Satya¹,

Mayilvaganan²,

Prathyusha

et al. 2018

Pol J Radiol

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Ectopia cordis in an adult patient with COVID‐19: A case report and literature review

Alshamiri

Al-Briek

Farrag

et al. 2022

Clinical Case Reports

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Ectopia cordis (EC) is a rare congenital condition characterized by a partial or complete defect of the anterior chest wall. It is associated with ventricular and atrial septal defects (ASD), Ebstein's anomaly, truncus arteriosus, transposition of the great vessels, tetralogy of Fallot, and hypoplastic left heart syndrome. This study aimed to explore the cardiac manifestations of EC complicated by coronavirus disease 2019 (COVID‐19). A 23‐year‐old male, born with EC, was admitted to the hospital for acute cough and fever. The patient was diagnosed with EC and ASD by computed tomography and COVID‐19 via a polymerase chain reaction swab test. Patients with ECs rarely survive till adulthood. However, due to the rarity of this syndrome, upon literature review, we did not find a case of EC with concurrent COVID‐19 infection. The patient underwent the required investigations and conventional treatment such as fluid resuscitation, antibiotics administration, and full code cardiopulmonary resuscitation. The interventions performed were unsuccessful, and the patient died. This case demonstrates a patient who lived with EC and its associated cardiac anomalies but died of COVID‐19 and its complications despite full resuscitation attempts. Our findings suggest that patients with EC may survive to adulthood if they have an incomplete EC, fewer intracardiac defects except for ASD, and an absence of an omphalocele.

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Pentalogy and Cantrell and sternal cleft: a report of two cases and review of literature

Chinawa

Agarwal

Garekar

et al. 2017

Indian J Thorac Cardiovasc Surg

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Pentalogy of Cantrell: a case report

Cited by 8 publications

References 3 publications

A Recurrent Case of Pentalogy of Cantrell: A Rare Case with Sonological Findings and Review of Literature

A Recurrent Case of Pentalogy of Cantrell: A Rare Case with Sonological Findings and Review of Literature

Ectopia cordis in an adult patient with COVID‐19: A case report and literature review

Pentalogy and Cantrell and sternal cleft: a report of two cases and review of literature

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