O coração é um órgão muscular presente nos humanos e em outros animais que bombeia o sangue através dos vasos sanguíneos do sistema circulatório. O sangue fornece ao corpo oxigénio e nutrientes e ajuda a eliminar resíduos metabólicos. Nos humanos, o coração situa-se na cavidade torácica entre os pulmões, num espaço denominado mediastino.
Introdução
O que você precisa saber de cara
Anomalia congênita do pericárdio é uma condição rara caracterizada por alterações estruturais ou ausência parcial/total do pericárdio presentes desde o nascimento. Pode ser assintomática ou causar sintomas como dor torácica e dispneia.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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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
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Anomalia congênita do pericárdio
Centros de Referência SUS
24 centros habilitados pelo SUS para Anomalia congênita do pericárdio
Centros para Anomalia congênita do pericárdio
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Cantrell Syndrome and the One Health Perspective: A Unified Review of Human and Comparative Cases.
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miR-124 orchestrates epicardial-mesenchymal transformation and paracrine cardiomyocyte maturation in epicardial-specific Tcf21-PKR1 knockout mice.
During the heart development, epicardial-to-mesenchymal transition (EMT) drives the production of progenitor cell populations that contribute to heart formation; however, the molecular control of EMT and its paracrine effects on cardiomyocytes remain poorly elucidated. Here, we defined a novel PKR1-miR-124-SNAI2 signaling axis that orchestrates EMT and coordinates myocardial maturation. Conditional deletion of the prokineticin receptor (PKR1) in mice Tcf21+ epicardial cells caused embryonic lethality and congenital heart disease-like anomalies, including ventricular rupture, arrhythmia, myocardial fibrosis, and impaired contractility. Transcriptomic profiling revealed marked upregulation of miR-124, concurrent with deregulation of EMT genes and signatures of immature cardiomyocytes. Mechanistically, miR-124 directly targets the 3' untranslated region of SNAI2, suppressing this key EMT regulator, resulting in failed EMT, apoptosis, and fibrosis in the epicardium. Functional rescue through miR-124 inhibition or PKR1 reintroduction restores SNAI2 expression, revives EMT, enhances cell survival, and promotes proper cardiomyocyte maturation. Paracrine effects were substantiated by conditioned media and ex vivo assays, demonstrating that epicardial-derived miR-124 suppressed cardiomyocyte contractility and cardiac maturity gene expression-thereby functionally linking epicardial disruption to myocardial immaturity. These findings establish miR-124 as a critical mediator of epicardial-myocardial communication with PKR1 as its upstream regulator. By integrating epicardial plasticity, myocardial maturation, and ECM homeostasis, our work reveals that targeting the PKR1-miR-124-SNAI2 pathway offers a novel mechanistic framework and potential therapeutic target for preventing or treating congenital heart disease.
Pericardial Cyst at the Left Cardiophrenic Angle Mimicking Localized Effusion: A Diagnostic Dilemma.
Pericardial cysts are rare, benign, congenital anomalies of the pericardium, usually located within the right cardiophrenic space, often discovered incidentally during imaging performed for unrelated reasons. They usually do not cause symptoms and are detected by chance. Chest X-ray, echocardiography, and chest computed tomography (CT) or magnetic resonance imaging (MRI) are useful diagnostic tools. Nevertheless, after safe diagnostic, management options include conservative management with follow-up, percutaneous aspiration of the cyst, and excision of the cyst (direct invasive therapeutic approach should be the option only for patients with overt symptoms and indications). We report a case of a large, stable pericardial cyst in an atypical location in a 64-year-old woman.
An Incidental Necropsy Finding: Intrathoracic Ectopic Liver in a Cat.
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.
Contemporary Review of Clinical Features, Multi-Modality Imaging, and Management of Pericardial Cysts.
Pericardial cysts (PCs) are rare, benign congenital abnormalities that are encountered as mediastinal lesions. Despite their rarity, they remain clinically important due to their potential to mimic other mediastinal or cardiac pathologies and their capacity, in select cases, to cause significant complications. PCs are typically identified incidentally on imaging studies such as chest x-ray or transthoracic echocardiography, as most patients remain asymptomatic throughout their lives. When symptoms do occur, they are often nonspecific and related to compression of adjacent structures. Serious complications-including infection, rupture, and, rarely, cardiac tamponade-have been reported, underscoring the importance of accurate diagnosis and appropriate follow-up. Definitive characterization of PCs is best achieved using advanced imaging modalities such as cardiac computed tomography or cardiac magnetic resonance imaging, which help differentiate PCs from other mediastinal masses. While many PCs remain stable or even regress spontaneously, intervention may be warranted for symptomatic patients, enlarging cysts, or when the diagnosis remains uncertain. Therapeutic options include percutaneous aspiration, which carries a risk of recurrence, and surgical resection, which offers definitive treatment with excellent outcomes. This review provides a comprehensive overview of the etiology, clinical manifestations, diagnostic evaluation, differential diagnosis, complications, and management strategies for PCs.
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Pediatric dermatologyHistological examination of explanted tissue-engineered bovine pericardium following heart valve repair.
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BJR case reportsAbsent pericardium and lung hypoplasia in a child with severe mitral regurgitation.
Asian cardiovascular & thoracic annalsSuperior Vena Cava Flap to Reroute Partial Anomalous Pulmonary Venous Connection.
World journal for pediatric & congenital heart surgeryDouble drainage of pulmonary vein associated with atrial septal defect.
Asian cardiovascular & thoracic annalsExtralobar pulmonary sequestration with absence of pericardium and atrial septal defect in a woman.
Journal of cardiothoracic surgeryMaternal voluntary exercise mitigates oxidative stress and incidence of congenital heart defects in pre-gestational diabetes.
Journal of cellular and molecular medicinePartial Congenital Absence of The Pericardium: A Case Report.
Brazilian journal of cardiovascular surgeryAutologous Patch Angioplasty of a Giant Right Coronary Artery Aneurysm and Coronary Stenosis in Kawasaki Disease.
World journal for pediatric & congenital heart surgeryCongenital absence of the pericardium: A rare and challenging diagnosis.
JAAPA : official journal of the American Academy of Physician AssistantsThe surgical treatment of anomalous origin of one pulmonary artery from the ascending aorta.
Journal of cardiothoracic surgeryMultimodality Imaging for the Assessment of Pericardial Diseases.
Current cardiology reportsRevisiting the infracardiac bursa using multimodal methods: topographic anatomy for surgery of the esophagogastric junction.
Journal of anatomyA Case Report of Congenitally Absent Pericardium Masquerading as Recurrent Pericarditis.
Hawai'i journal of medicine & public health : a journal of Asia Pacific Medicine & Public HealthEctopia Cordis Associated with Pentalogy of Cantrell-A Case Report.
Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e ObstetriciaPartial Pericardial Agenesis Mimicking Arrhythmogenic Right Ventricular Cardiomyopathy.
Clinical journal of sport medicine : official journal of the Canadian Academy of Sport MedicineConstrictive pericarditis with a life-threatening giant pericardial cyst and pectus excavatum as unusual cause for malign cardiac arrhythmias.
PerfusionThe aberrant systemic-pulmonary artery communication: three-dimensional image simulation.
Journal of cardiothoracic surgeryLobectomy for Lung Cancer With Congenital Pericardial Defect.
The Annals of thoracic surgeryComplete absence of the pericardium in a competitive athlete.
Kardiologia polskaResection of left atrial appendage aneurysm and full maze procedure as curative management for stroke recurrence.
General thoracic and cardiovascular surgery[Anesthesia for surgical repair of the pentalogy of Cantrell: case report].
Brazilian journal of anesthesiology (Elsevier)Imaging of Pericardial Disease.
Radiologic clinics of North AmericaCongenital left ventricular aneurysm diagnosed with atrial septal defect.
Asian cardiovascular & thoracic annalsSnoopy sign: Congenital absence of the left pericardium.
Journal of medical imaging and radiation oncologyEpicardial Fat Thickness in Children with Classic Congenital Adrenal Hyperplasia.
Journal of clinical research in pediatric endocrinologyLeft pericardial defect: A rare cause of chest pain.
Revista portuguesa de cardiologiaCongenital absence of the pericardium and tricuspid regurgitation.
QJM : monthly journal of the Association of PhysiciansPentalogy of Cantrell associated with unilateral anophthalmia: Case report and literature review.
MedicineCantrell Syndrome-A Rare Complex Congenital Anomaly: A Case Report and Literature Review.
Frontiers in pediatricsPartial Hammock Valve: Surgical Repair and Long-Term Follow-Up in 23 Patients.
The Annals of thoracic surgeryAsymptomatic left atrial appendage aneurysm (LAAA) with pericardial defect in a 1-year-old girl.
BMJ case reportsResults of aortic valve repair using decellularized bovine pericardium in congenital surgery.
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic SurgeryMultidetector Computed Tomography (CT) in Evaluation of Congenital Cyanotic Heart Diseases.
Polish journal of radiologyPulmonary vein obstruction after primary sutureless pericardial repair of a total anomalous pulmonary venous connection.
Interactive cardiovascular and thoracic surgerySuperior Cavopulmonary Anastomosis in Patients With Bilateral Superior Caval Veins: Use of a Rolled Pericardial Graft to Create a Single Caval Vein.
World journal for pediatric & congenital heart surgerySutureless pericardial marsupialization for the repair of congenital right pulmonary veins atresia.
Interactive cardiovascular and thoracic surgeryPerivascular Epicardial Fat Stranding at Coronary CT Angiography: A Marker of Acute Plaque Rupture and Spontaneous Coronary Artery Dissection.
RadiologyLeft-side pericardial agenesis: Putting the pieces together.
Echocardiography (Mount Kisco, N.Y.)Repair of Morgagni hernia and ventricular septal defect through sternotomy.
Asian cardiovascular & thoracic annalsRepair of a quadricuspid truncal valve by tricuspidization and reconstruction of right ventricular outflow tract with the excised truncal cusp.
The Journal of thoracic and cardiovascular surgerySelecting the right defibrillator in the younger patient: Transvenous, epicardial or subcutaneous?
International journal of cardiologyDor procedure for pulmonary atresia with intact ventricular septum in an infant.
Interactive cardiovascular and thoracic surgeryFollow-up of a simple method for aortic valve reconstruction with fixed pericardium in children.
Interactive cardiovascular and thoracic surgeryTotal pericardium agenesis mistaken for arrhythmogenic right ventricular cardiomyopathy.
European heart journal. Cardiovascular ImagingSternal malformations and anesthetic management.
Paediatric anaesthesiaCongenital Abnormalities of the Pericardium.
Cardiology clinicsApplication of a Simplified Hand-Sewn Trileaflet Valved Conduit in Right Ventricular Outflow Tract Reconstruction as an Alternative for Bovine Jugular Vein Graft: Single-Center Experience.
Artificial organsTriphasic Mitral Inflow Pattern in a Patient with Congenital Absence of the Pericardium.
Internal medicine (Tokyo, Japan)Rare Cause of Pneumopericardium in a Patient Following a Motor Vehicle Collision.
The American surgeonCongenital 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 SocietyLeft pericardial congenital defect: the heart shows its moves at CMR.
European heart journal. Cardiovascular ImagingSurgical treatment for double-chambered right ventricle in a septuagenarian.
Asian cardiovascular & thoracic annalsRepair of Intrapericardial Diaphragmatic Hernia during Aortic Surgery in a 78-Year-Old Woman.
Texas Heart Institute journalPrimary repair of complete sternal cleft associated with absent anterior pericardium.
Journal of cardiac surgeryEpithelial tension in the second heart field promotes mouse heart tube elongation.
Nature communicationsReal-Time Three-Dimensional Echocardiography: Characterization of Cardiac Anatomy and Function-Current Clinical Applications and Literature Review Update.
BioResearch open accessEchocardiographic diagnosis of total or left congenital pericardial absence with positional change.
Heart (British Cardiac Society)Congenital partial absence of the pericardium presenting with a rare concurrent abnormality of vascular ring diagnosed by cardiac magnetic resonance imaging.
Advanced biomedical researchA Recurrent Case of Pentalogy of Cantrell: A Rare Case with Sonological Findings and Review of Literature.
Polish journal of radiologyInflammation and Rupture of a Congenital Pericardial Cyst Manifesting Itself as an Acute Chest Pain Syndrome.
Texas Heart Institute journalCommon Arterial Trunk Repair by Means of a Handmade Bovine Pericardial-Valved Woven Dacron Conduit.
World journal for pediatric & congenital heart surgeryInterventional Treatment of Pulmonary Lymphatic Anomalies.
Techniques in vascular and interventional radiologyCongenital Absence of the Pericardium: A Systematic Approach to Diagnosis and Management.
Cardiology[Partial pericardium defect with a cardiac heart diverticulum and extensive intrauterine hypoxic myocardial lesions].
Der PathologeDiffuse Pulmonary Lymphangiomatosis: MDCT Findings After Direct Lymphangiography.
AJR. American journal of roentgenologyA rare giant pericardial cyst mimicking a paracardiac mass.
Cardiovascular journal of AfricaThe safe zone for blinded sternal interventions based on CT evaluation of midline congenital sternal foramina.
Skeletal radiologyNatural history and life-threatening complications in Myhre syndrome and review of the literature.
European journal of pediatricsAssociações
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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.
- Cantrell Syndrome and the One Health Perspective: A Unified Review of Human and Comparative Cases.
- miR-124 orchestrates epicardial-mesenchymal transformation and paracrine cardiomyocyte maturation in epicardial-specific Tcf21-PKR1 knockout mice.
- Pericardial Cyst at the Left Cardiophrenic Angle Mimicking Localized Effusion: A Diagnostic Dilemma.
- An Incidental Necropsy Finding: Intrathoracic Ectopic Liver in a Cat.
- Contemporary Review of Clinical Features, Multi-Modality Imaging, and Management of Pericardial Cysts.
- Congenital Absence of Pericardium: The Swinging Heart.
- Left lower lobectomy without pericardial reconstruction in a patient with a congenital pericardium defect.
- Case report: Delayed cardiac rupture with congenital absence of pericardium after blunt trauma.
- [Extensive partial agenesis of the left pericardium. An anatomo-clinical correlation. Report of 2 cases].
- [Congenital pericardium defect - report of 2 cases].
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2846(Orphanet)
- MONDO:0017300(MONDO)
- GARD:18779(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55786969(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
