Raras
Buscar doenças, sintomas, genes...
Defeito do pericárdio e diafragma
ORPHA:2847CID-10 · Q79.1DOENÇA RARA

O defeito pericárdico e diafragmático é uma combinação rara de pericárdio ausente com defeito diafragmático congênito.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

O defeito pericárdico e diafragmático é uma combinação rara de pericárdio ausente com defeito diafragmático congênito.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
20
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q79.1
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

❤️
Coração
5 sintomas
🫁
Pulmão
3 sintomas
🫃
Digestivo
3 sintomas
🦴
Ossos e articulações
1 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

100%prev.
Ausência de hemidiafragma esquerdo
100%prev.
Ausência diafragmática parcial do pericárdio
55%prev.
Hipoplasia pulmonar
Frequente (79-30%)
55%prev.
Desconforto respiratório neonatal
Frequente (79-30%)
55%prev.
Hipoxemia
Frequente (79-30%)
17%prev.
Palpitações
Ocasional (29-5%)
20sintomas
Muito frequente (2)
Frequente (3)
Ocasional (15)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.

Ausência de hemidiafragma esquerdoAbsent left hemidiaphragm
Muito frequente100%
Ausência diafragmática parcial do pericárdioPartial diaphragmatic absence of pericardium
Muito frequente100%
Hipoplasia pulmonarPulmonary hypoplasia
Frequente (79-30%)55%
Desconforto respiratório neonatalNeonatal respiratory distress
Frequente (79-30%)55%
HipoxemiaHypoxemia
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos137publicações
Pico202517 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Defeito do pericárdio e diafragma

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Cantrell Syndrome and the One Health Perspective: A Unified Review of Human and Comparative Cases.

Veterinary sciences2026 Feb 07

Cantrell syndrome (CS) is a rare congenital disorder involving defects in the thoraco-abdominal midline, the diaphragm, the pericardium, the sternum and the heart. Since the initial description of the syndrome, 165 well-documented cases in humans have been reported, demonstrating substantial heterogeneity ranging from complete pentalogy to partial or atypical variants. A systematic review classified body wall defects and associated anomalies into nine categories, which are fully described in the manuscript. The categories include midline defects (UThAb, SUThAb, UAb, SUAb, SUICD, and UH), lateral defects (ThLAb and StLAb), and special cases. Each case was reassessed for umbilical cord status, body wall morphology, cardiac anomalies and additional malformations. Midline defects predominated (153 out of 165 cases, 92.7%), with supraumbilical variants being the most frequent. Umbilical hernias formed a distinct subgroup of ten cases. Lateral defects were uncommon (9 cases, 5.5%) and typically presented as thoracogastroschisis or lateral thoracoabdominoschisis. These defects were often associated with normal umbilical cords. Cardiac anomalies were universal, with ventricular and atrial septal defects being the most common findings. Reclassification revealed that many cases originally labeled as 'classic pentalogy of Cantrell' were more accurately classified as partial or atypical forms. This unified framework improves epidemiological understanding and diagnostic precision. From a One Health perspective, it underscores CS as a shared developmental vulnerability across mammalian species.

#2

An Incidental Necropsy Finding: Intrathoracic Ectopic Liver in a Cat.

Animals : an open access journal from MDPI2026 Feb 27

Ectopic liver is a rare anomaly characterized by the presence of hepatic tissue outside its normal anatomical location without continuity with the main liver. Reports of this condition are sporadic in human medicine, and cases in veterinary species remain limited. This condition may arise as a congenital developmental defect or as a consequence of prior traumatic injury leading to fragmentation and displacement of hepatic tissue. This case study describes an incidental intrathoracic ectopic liver identified in a 6-year-old male cat that died of acute suppurative bacterial pneumonia. Necropsy revealed a well-demarcated, encapsulated, large mass within the middle of the caudal mediastinum, unattached to the diaphragm, lungs, or pericardium. Cytologic and histopathologic examinations confirmed the presence of hepatic tissue with preserved lobular architecture. No evidence of previous trauma or diaphragmatic defects was present, supporting the congenital origin. The accompanying severe bacterial pneumonia was unrelated to the mediastinal mass. This study highlights the diagnostic challenges associated with intrathoracic ectopic liver, which can mimic neoplastic or inflammatory masses. Awareness of this entity is essential for accurate diagnosis. Given the documented risk of malignant transformation in ectopic hepatic tissue, surgical excision and histopathological assessment should be considered whenever such lesions are detected.

#3

Radiological insights into a voluminous left-sided Morgagni-Larrey hernia: A case report.

Radiology case reports2026 May

Morgagni-Larrey hernia is a rare condition, accounting for less than 5% of congenital diaphragmatic hernias, with a marked predominance on the right side. Left-sided localizations are encountered rarely due to the protection afforded by the heart and pericardium. We report the case of a 17-year-old patient admitted to the emergency department with acute abdominal pain and dyspnea. Chest X-ray revealed a left basithoracic opacity with air-fluid level, confirmed by thoracoabdominal-pelvic computed tomography as corresponding to a left sided Morgagni-Larrey hernia. The hernial contents were particularly extensive, including the stomach, spleen, transverse colon, omentum, and tail of the pancreas. The patient underwent surgical reduction of the viscera and closure of the diaphragmatic defect, with a favorable postoperative outcome. This case illustrates the rarity of large left-sided Morgagni-Larrey hernias and highlights the importance of imaging, particularly CT, for diagnosis and surgical planning.

#4

Pentalogy of Cantrell: Comprehensive Multimodal Imaging Evaluation in an Adult With Ectopia Cordis.

JACC. Case reports2026 Mar 18

Pentalogy of Cantrell (PC) is a rare congenital syndrome defined by 5 midline structural defects involving the heart, sternum, diaphragm, pericardium, and abdominal wall. Adult survival is exceptional, particularly in cases associated with ectopia cordis (EC). A 29-year-old asymptomatic man with ectopia cordis was evaluated using multimodal cardiac imaging, which demonstrated sternal, diaphragmatic, and pericardial defects consistent with PC, along with a large ventricular septal defect and patent ductus arteriosus causing pulmonary hypertension. Surgical correction was declined, and medical therapy was indicated with clinical stability. Comprehensive multimodal imaging allows accurate anatomic characterization and functional assessment of complex congenital malformations, while adult presentation underscores the variable spectrum of PC and the potential for survival in partial or less severe forms. PC rarely presents in adulthood. Multimodal imaging is essential for diagnosis and management. Survival depends on less severe intracardiac and thoracoabdominal defects.

#5

Congenital peritoneo-pericardial hernia in a 4 years-old child: Case report of a rare type of congenital diaphragmatic hernia.

Radiology case reports2026 Mar

Congenital peritoneo-pericardial Hernia (CPPDH) occurs when a defect in the central tendon of the diaphragm allows communication between the peritoneal and pericardial cavities, leading to herniation of intra-abdominal organs into the pericardial cavity. It is an extremely rare form of congenital diaphragmatic hernia with only a few reported cases in the literature. We report a case of congenital peritoneo-pericardial hernia diagnosed in a 4-year-old female child after she presented with fast breathing and intermittent cough. The diagnosis was suspected during echocardiography,when a solid mass having similar echogenicity to the liver was seen in the pericardial cavity. Computed tomography (CT) scan demonstrated a central diaphragmatic defect and herniation of the left liver lobe and the stomach into the pericardial cavity. Currently, surgery is the only option of management, and a correct diagnosis is usually not made prior to surgery. Our report highlights the crucial imaging findings helpful in the preoperative diagnosis, and also the importance of considering CPPDH as a differential diagnosis for an unusual intra-pericardial lesion discovered during echocardiography.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 136

2026

An Incidental Necropsy Finding: Intrathoracic Ectopic Liver in a Cat.

Animals : an open access journal from MDPI
2026

Radiological insights into a voluminous left-sided Morgagni-Larrey hernia: A case report.

Radiology case reports
2026

Cantrell Syndrome and the One Health Perspective: A Unified Review of Human and Comparative Cases.

Veterinary sciences
2026

Pentalogy of Cantrell: Comprehensive Multimodal Imaging Evaluation in an Adult With Ectopia Cordis.

JACC. Case reports
2026

Congenital peritoneo-pericardial hernia in a 4 years-old child: Case report of a rare type of congenital diaphragmatic hernia.

Radiology case reports
2025

Robot-Assisted Laparoscopic Repair of Pericardial Hernia in a Heart Transplant Patient.

Annals of thoracic surgery short reports
2025

Massive diaphragmectomy combined with pericardiectomy for ovarian cancer: a case report.

Gynecologic oncology reports
2025

Laparoscopic Repair of Diaphragmatic Pericardial Hernia Following Blunt Trauma: A Case Report.

The American journal of case reports
2025

Prenatal diagnosis and management challenges of Pentalogy of Cantrell at term in a resource-constrained setting: A rare case report.

International journal of surgery case reports
2025

[ Giant asymptomatic anterolateral diaphragmatic hernia in an adult: report of a rare case].

Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)
2025

Prenatal ultrasound diagnosis of pentalogy of Cantrell: A case report.

Medicine
2025

Jugular Venous Doppler Ultrasound as a Non-Invasive Window to Right Heart Hemodynamics: A Narrative Review and Future Perspective.

Therapeutic advances in pulmonary and critical care medicine
2025

Long-term survival after extended resection combined with pericardiectomy for locally advanced intrahepatic cholangiocarcinoma: a case report.

Journal of surgical case reports
2025

Peritoneo pericardial hernioplasty in a 2-month-old Shih Tzu.

Open veterinary journal
2025

Nephrotic syndrome with concurrent effusion from a different cause: A case series.

Journal of family medicine and primary care
2024

[MEP-41] Management of Diaphgramatic Dehiscence and Wound Infection After Open Repair of Thoracoabdominal Aortic Aneurysm.

Turk gogus kalp damar cerrahisi dergisi
2025

Anesthesia for Pentalogy of Cantrell with Surgical Repair of Tetralogy of Fallot Along with Absent Diaphragm: A Case Study.

Annals of cardiac anaesthesia
2025

Minimally invasive surgery for concomitant pericardial and diaphragmatic rupture after blunt trauma: a case report.

Journal of trauma and injury
2025

Reconstruction of a Sternal Cleft and Ventral Hernia in an Adolescent with Pentalogy of Cantrell Utilizing Titanium Plates.

The American surgeon
2025

Impact of diaphragm paralysis and its surgical interventions on outcomes after the staged Fontan procedure.

Interdisciplinary cardiovascular and thoracic surgery
2025

Subxiphoid hernia, definition and repair: an international delphi consensus.

Hernia : the journal of hernias and abdominal wall surgery
2025

Endometriosis presenting as catamenial pneumothorax, pneumopericardium and pneumoperitoneum.

BMJ case reports
2024

Pericardial Hernia After Pericardial Window: A Rare Case.

Cureus
2025

Piezo, Nephrocyte Function, and Slit Diaphragm Maintenance in Drosophila.

Journal of the American Society of Nephrology : JASN
2024

Strangulated pericardial hernia presenting as a case of STEMI; when the disease misleads the physician: a very rare case report.

Annals of medicine and surgery (2012)
2024

Multimodality Imaging of Congenital Intrapericardial Diaphragmatic Hernia.

Radiology. Cardiothoracic imaging
2024

Case Report: Surgical challenges and insights in a child with a blunt left diaphragmatic and pericardial rupture and heart subluxation.

Frontiers in surgery
2024

Diaphragmatic and pericardial reconstruction using a Gore-Tex® patch in a patient with an invasive liver malignancy.

Clinical journal of gastroenterology
2024

[Analysis of Prenatal Ultrasound Manifestations in 15 Cases of Cantrell Syndrome].

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition
2024

Acellular Bovine Pericardial Patch for Difficult Abdominal Closure in the Pediatric Population: Our Experience with Review of Literature.

Journal of Indian Association of Pediatric Surgeons
2024

Primary pericardial synovial sarcoma requiring emergency salvage right atrial debulking: a case report.

Journal of surgical case reports
2023

Pulsating abdominal mass in a newborn - Pentalogy of Cantrell with left ventricular diverticulum.

Annals of pediatric cardiology
2024

A Case of Incidentally Discovered Congenital Complete Pericardial Defect during Lobectomy for Lung Cancer: A Case Report and Literature Review.

Annals of thoracic and cardiovascular surgery : official journal of the Association of Thoracic and Cardiovascular Surgeons of Asia
2024

A ventral diaphragmatic advancement technique to repair a large congenital peritoneopericardial diaphragmatic hernia in a dog.

Journal of the American Veterinary Medical Association
2024

A case of a peritoneal dialysis patient with left pleuroperitoneal communication caused by a pericardial defect after coronary artery bypass surgery.

CEN case reports
2024

Evidence of Pneumopericardium after Elective Ovariectomy in a Peritoneopericardial Diaphragmatic Hernia-Affected Dog: A Case Report.

Animals : an open access journal from MDPI
2024

Intrapericardial Diaphragmatic Hernia Following the Convergence Procedure for Atrial Fibrillation.

Cureus
2023

The pentalogy of Cantrell: A rare and challenging prenatal diagnosis.

International journal of surgery case reports
2023

Giant right atrial aneurysm associated with persistent left cranial vena cava in a cat.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2023

Iatrogenic diaphragmatic herniation of the liver into the pericardium-a case report.

Journal of surgical case reports
2023

Surgical treatment of neonatal Cantrell pentalogy: a case report and literature review.

AME case reports
2023

Pentalogy of Cantrell in Two Neonate Littermate Puppies: A Spontaneous Animal Model Suggesting Familial Inheritance.

Animals : an open access journal from MDPI
2023

Congenital Diaphragmatic Hernia - Diagnosis After Intra-Thoracic Cholecystitis.

Portuguese journal of cardiac thoracic and vascular surgery
2023

A case of a transient phrenic nerve paralysis after resection of a giant lymphangioma evaluated by dynamic digital radiography.

General thoracic and cardiovascular surgery cases
2024

Intrapericardial liver herniation after coronary artery bypass grafting: a case report of minimally invasive repair with 20-year follow-up.

Acta chirurgica Belgica
2023

The Combined Robotic-assisted Laparoscopic and Thoracic Approach in the Management of Diaphragmatic, Pleural, and Pericardial Endometriosis.

Journal of minimally invasive gynecology
2023

Single-site laparoscopic ligation of the hernia sac in infants with congenital Morgagni hernia.

Frontiers in pediatrics
2023

Successful early diagnosis and surgical treatment of congenital caval foramen hernia in an 8-month-old mixed breed cat.

Brazilian journal of veterinary medicine
2023

Hypogenetic right lung with partial anomalous pulmonary venous return and accessory diaphragm: a case of "scimitar lung".

Folia morphologica
2022

Traumatic Diaphragmatic Rupture With Pericardial Tear and Transdiaphragmatic Herniation of the Stomach.

Cureus
2022

Severe pericardial effusion in a cat with peritoneopericardial diaphragmatic hernia and incarcerated hepatic sarcoma.

JFMS open reports
2022

Left upper lobectomy in a patient with congenital pericardial defect.

Asian cardiovascular &amp; thoracic annals
2022

Pentalogy of Cantrell Associated with Ectopia Cordis: A Case Report.

Pediatric health, medicine and therapeutics
2022

Radiological findings of partial expression pentalogy of Cantrell and other multiple congenital anomalies: A rare case report.

Radiology case reports
2022

The way to a man's heart is through his stomach? A unique case report of transient constrictive pericarditis secondary to infarction of herniated omentum following bariatric surgery.

European heart journal. Case reports
2023

Congenital biventricular cardiac diverticula as a part of class III Cantrell's syndrome: case report.

Cardiology in the young
2022

The use of biological membranes for correction of congenital malformations.

Cell and tissue banking
2021

[Ventricular diverticulum in Cantrell´s pentalogy: rare but not isolated entities].

Archivos peruanos de cardiologia y cirugia cardiovascular
2021

Combined Use of Electrocardiography and Ultrasound to Detect Cardiac and Pulmonary Involvement after Recovery from COVID-19 Pneumonia: A Case Series.

Journal of cardiovascular development and disease
2021

Post-ablation Dyspnea a Case Report to Highlight the Differential Diagnoses.

Cureus
2021

Laparoscopic liver resection with open partial resection of the thoracoabdominal wall for cancer along the transhepatic biliary drainage tract: A case report.

International journal of surgery case reports
2022

Pentalogy of Cantrell With a Left Ventricular Diverticulum and Muscular VSD.

The Annals of thoracic surgery
2022

Surgical Management of Total Sternal Cleft in a Pentalogy of Cantrell Neonate.

The Annals of thoracic surgery
2021

Malposition of septum primum in isolated dextrocardia: unique and rare form of anomalous pulmonary venous return in association with partial absence of pericardium-case report.

Journal of cardiothoracic surgery
2021

Frequency of sternal variations and anomalies in living individuals evaluated by MDCT.

European journal of radiology
2021

Post-traumatic diaphragmatic rupture with pericardial denudation: A case report.

International journal of surgery case reports
2021

The complete spectrum of pentalogy of Cantrell in one of a set of dizygotic twins: A case report of a rare congenital anomaly.

Medicine
2021

Rapidly involuting congenital hemangioma of the liver in a newborn with incomplete Pentalogy of Cantrell: description of a new association.

Journal of surgical case reports
2021

Peritoneopericardial diaphragmatic hernia in a healthy adult feline (Felis catus domesticus): diagnosis to surgical treatment - Case report.

Brazilian journal of veterinary medicine
2021

Twin pregnancy in which both fetuses have Cantrell's pentalogy: A case report and literature review.

European journal of obstetrics, gynecology, and reproductive biology
2021

Peritoneal-pericardial diaphragmatic hernia in a 6-year-old male intact pug dog.

The Canadian veterinary journal = La revue veterinaire canadienne
2021

Laparoscopic excision of pericardial and diaphragmatic endometriosis.

Fertility and sterility
2020

Rare complication after pericardial window: symptomatic diaphragmatic hernia containing bowel and liver.

BMJ case reports
2020

Conservative management of Cantrell syndrome: a case report.

Journal of surgical case reports
2020

Transdiaphragmatic-pericardial Hernia: Case Report of an Unusual Condition Managed by Utilization of a Robotic Surgical System.

Cureus
2020

Case report of traumatic intrapericardial diaphragmatic hernia: Laparoscopic composite mesh repair and literature review.

International journal of surgery case reports
2020

Adult congenital diaphragmatic hernia with absent pericardium and liver heterotopia.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2020

Successful Surgical Separation of Thoraco-Omphalopagus Symmetrical Conjoined Twins in Iran: Two Case Reports.

Iranian journal of medical sciences
2020

Cantrell syndrome in the first trimester of pregnancy: imagistic findings and literature review.

Medical ultrasonography
2020

Prenatal Diagnosis and Management of a Rare Central Tendon Defect Type of Congenital Diaphragmatic Hernia with a Massive Pericardial Effusion.

Case reports in obstetrics and gynecology
2020

Cantrell Syndrome (Thoracoabdominal Ectopia Cordis; Anomalous Umbilical Cord; Diaphragmatic, Pericardial and Intracardiac Defects) in the Pig (Sus scrofa domesticus).

Journal of comparative pathology
2019

Diagnosis and management of congenital absence of pericardium: a case report.

European heart journal. Case reports
2019

Delayed presentation of pericardio-diaphragmatic hernia following blunt trauma: A case report.

Trauma case reports
2019

Complete and Incomplete Pentalogy of Cantrell.

Children (Basel, Switzerland)
2019

MDCT prior to median re-sternotomy in cardiovascular surgery: our experiences, infrequent findings and the crucial role of radiological report.

The British journal of radiology
2019

Pentalogy of Cantrell in Full Term Neonate.

AJP reports
2019

Fetal Intra-pericardial Morgagni Hernia with effusion affecting one member of a twin gestation.

Echocardiography (Mount Kisco, N.Y.)
2019

Ectopia Cordis Associated with Pentalogy of Cantrell-A Case Report.

Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia
2019

Successful treatment of late onset empyema after extrapleural pneumonectomy: A case report.

Respiratory medicine case reports
2018

Imaging of thoracic hernias: types and complications.

Insights into imaging
2019

[Anesthesia for surgical repair of the pentalogy of Cantrell: case report].

Brazilian journal of anesthesiology (Elsevier)
2018

The Usefulness of Magnetic Resonance Imaging of the Cardiovascular System in the Diagnostic Work-Up of Patients With Turner Syndrome.

Frontiers in endocrinology
2018

Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum.

AJP reports
2018

A Diaphragmatic Hernia and Pericardial Rupture Caused by Blunt Injury of the Chest: A Case Review.

Journal of trauma nursing : the official journal of the Society of Trauma Nurses
2020

Morgagni Hernia Causing Incarcerated Bowel and Contributing to Cardiac Arrest.

Current problems in diagnostic radiology
2018

Intrapericardial diaphragmatic hernia into the pericardium after esophagectomy: a case report.

Surgical case reports
2018

Pentalogy of Cantrell associated with unilateral anophthalmia: Case report and literature review.

Medicine
2018

Cantrell Syndrome-A Rare Complex Congenital Anomaly: A Case Report and Literature Review.

Frontiers in pediatrics
2018

Management Challenges in an Infant With Pentalogy of Cantrell, Giant Anterior Encephalocele, and Craniofacial Anomalies: A Case Report.

A&amp;A practice
2018

Abrogation of TGF-beta signalling in TAGLN expressing cells recapitulates Pentalogy of Cantrell in the mouse.

Scientific reports
2018

Repair of Morgagni hernia and ventricular septal defect through sternotomy.

Asian cardiovascular &amp; thoracic annals
2018

An Autopsy Case of Mesenteric Panniculitis with Massive Pleural Effusions.

The American journal of case reports
2017

Laparoscopic repair of a peritoneopericardial diaphragmatic hernia after a convergent procedure for the treatment of atrial fibrillation.

Journal of thoracic disease
2018

Asymptomatic adult intrapericardial diaphragmatic hernia detected on cardiac SPECT CT.

Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology
2017

Sternal malformations and anesthetic management.

Paediatric anaesthesia
2017

Congenital Diaphragmatic Hernia with Liver Herniation into the Pericardial Sac in a 30-Week Gestation Infant.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2017

Severe Intrauterine Amputations in One Dichorionic Twin With Pentalogy of Cantrell: Further Evidence and Consideration for Mechanical Teratogenesis.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2017

Indentation in the Right Ventricle by an Incomplete Pericardium on 3-Dimensional Reconstructed Computed Tomography.

The Korean journal of thoracic and cardiovascular surgery
2017

Pericardial Herniation of Small Bowel Post Minimally Invasive Hybrid Maze of Atrial Fibrillation.

The Journal of emergency medicine
2017

Repair of Intrapericardial Diaphragmatic Hernia during Aortic Surgery in a 78-Year-Old Woman.

Texas Heart Institute journal
2017

Acquired transdiaphragmatic hernia: an unusual cause of cardiac tamponade.

Asian cardiovascular &amp; thoracic annals
2017

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

Polish journal of radiology
2017

Pericardio-Amniotic Shunting for Incomplete Pentalogy of Cantrell.

Fetal diagnosis and therapy
2016

Laparoscopic repair of an iatrogenic intrapericardial diaphragmatic hernia using the falciform ligament flap.

Acta chirurgica Belgica
2016

Morgagni hernia presenting with massive pericardial effusion and ascites: prenatal management by thoraco-amniotic shunting and fetal endoscopic tracheal occlusion (FETO) and review of the literature.

Archives of gynecology and obstetrics
2016

Hepatic fibrosarcoma incarcerated in a peritoneopericardial diaphragmatic hernia in a cat.

JFMS open reports
2016

Incomplete Pentalogy of Cantrell--A Case Report.

Mymensingh medical journal : MMJ
2016

Hepatoblastoma of the adult with pericardial metastasis: A case report.

International journal of surgery case reports
2016

Characterization of primary pulmonary adenosquamous carcinoma-associated pleural effusion.

Veterinary clinical pathology
2016

Use of Unique Doppler Flow-Pattern for the Diagnosis of Left Ventricular Diverticulum.

Echocardiography (Mount Kisco, N.Y.)
2016

A case of Cantrell syndrome diagnosed in the first trimester.

Clinical and experimental obstetrics &amp; gynecology
2015

Congenital diaphragmatic hernia with concurrent aplasia of the pericardium in a foal.

BMC veterinary research
2016

Previously Complicated Nuss Procedure Does Not Preclude Blind Removal of the Bar.

The Thoracic and cardiovascular surgeon
2015

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

Advances in neonatal care : official journal of the National Association of Neonatal Nurses
2015

Class II pentalogy of Cantrell.

BMC research notes
2015

Cardiac malposition (ectopia cordis) in a cat.

Journal of veterinary emergency and critical care (San Antonio, Tex. : 2001)
2015

Pentalogy of Cantrell accompanied by scoliosis and pes equinovarus deformity at 12 weeks gestation.

Clinical and experimental obstetrics &amp; gynecology
2015

Pentalogy of Cantrell: a case report.

BJR case reports
2015

Sternal Cleft Associated with Cantrell's Pentalogy in a German Shepherd Dog.

Journal of the American Animal Hospital Association
2015

Laparoscopic repair of Morgagni hernia by artificial pericardium patch in an adult obese patient.

Journal of thoracic disease
2015

5, 4, 3, 2, 1: embryologic variants of pentalogy of Cantrell.

The Journal of surgical research
2015

The hepatic buttress: A novel surgical technique to treat an intrapericardial diaphragmatic defect after hybrid myocardial ablation.

The Journal of thoracic and cardiovascular surgery
2014

Pentalogy of Cantrell with Ectopia Cordis: CT Findings.

Journal of radiology case reports
2016

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

Cardiology in the young
2014

Giant solitary fibrous tumor of the diaphragm: a case report and review of literature.

International journal of clinical and experimental pathology
2014

Congenital peritoneopericardial diaphragmatic hernia in a terrier dog.

Veterinary research forum : an international quarterly journal

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Cantrell Syndrome and the One Health Perspective: A Unified Review of Human and Comparative Cases.
    Veterinary sciences· 2026· PMID 41745959mais citado
  2. An Incidental Necropsy Finding: Intrathoracic Ectopic Liver in a Cat.
    Animals : an open access journal from MDPI· 2026· PMID 41828950mais citado
  3. Radiological insights into a voluminous left-sided Morgagni-Larrey hernia: A case report.
    Radiology case reports· 2026· PMID 41756558mais citado
  4. Pentalogy of Cantrell: Comprehensive Multimodal Imaging Evaluation in an Adult With Ectopia Cordis.
    JACC. Case reports· 2026· PMID 41665586mais citado
  5. Congenital peritoneo-pericardial hernia in a 4 years-old child: Case report of a rare type of congenital diaphragmatic hernia.
    Radiology case reports· 2026· PMID 41451267mais citado
  6. A fatal case of gastropericardial fistula due to a benign gastric ulcer.
    J Forensic Leg Med· 2025· PMID 40819629recente
  7. A novel technique for transdiaphragmatic latero-pericardial cardiophrenic lymph node excision using the minimally invasive surgical access procedure in patient with advanced stage ovarian cancer.
    J Gynecol Oncol· 2025· PMID 40444337recente
  8. Anesthesia for Pentalogy of Cantrell with Surgical Repair of Tetralogy of Fallot Along with Absent Diaphragm: A Case Study.
    Ann Card Anaesth· 2025· PMID 40237667recente
  9. Extended resection of a mediastinal tumour with diaphragm reconstruction.
    Multimed Man Cardiothorac Surg· 2025· PMID 39887293recente
  10. Robotic left intrapericardial upper lobectomy, pericardial reconstruction and diaphragmatic plication.
    Multimed Man Cardiothorac Surg· 2024· PMID 39292172recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2847(Orphanet)
  2. MONDO:0017301(MONDO)
  3. GARD:18780(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55786970(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Defeito do pericárdio e diafragma
Compêndio · Raras BR

Defeito do pericárdio e diafragma

ORPHA:2847 · MONDO:0017301
Prevalência
<1 / 1 000 000
Casos
20 casos conhecidos
Herança
Autosomal recessive, Not applicable
CID-10
Q79.1 · Outras malformações congênitas do diafragma
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4510305
Wikidata
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