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Anomalia congênita do pericárdio
ORPHA:2846CID-11 · LA8DDOENÇA RARA

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.

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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.

Publicações científicas
5 artigos
Último publicado: 2024 Aug 14

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
All ages
🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PE, BA, CE, PB +10
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Sinais e sintomas

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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico5PubMed
Últimos 10 anos200publicações
Pico202528 papers
Linha do tempo
2026Hoje · 2026🧪 2018Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
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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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

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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

miR-124 orchestrates epicardial-mesenchymal transformation and paracrine cardiomyocyte maturation in epicardial-specific Tcf21-PKR1 knockout mice.

Stem cells (Dayton, Ohio)2026 Feb 23

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.

#3

Pericardial Cyst at the Left Cardiophrenic Angle Mimicking Localized Effusion: A Diagnostic Dilemma.

Cureus2026 Feb

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.

#4

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.

#5

Contemporary Review of Clinical Features, Multi-Modality Imaging, and Management of Pericardial Cysts.

Journal of clinical medicine2026 Feb 18

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.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

Pericardial Cyst at the Left Cardiophrenic Angle Mimicking Localized Effusion: A Diagnostic Dilemma.

Cureus
2026

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

Animals : an open access journal from MDPI
2026

Contemporary Review of Clinical Features, Multi-Modality Imaging, and Management of Pericardial Cysts.

Journal of clinical medicine
2026

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

Veterinary sciences
2026

Left Ventricular Pericardial Strangulation: A Diagnostic Challenge in Acute Coronary Syndrome.

Methodist DeBakey cardiovascular journal
2026

Extracellular Matrix Tissue Patch for Pulmonary Artery Repair in Pediatric Cardiac Surgery: A Single-Center Experience.

Journal of clinical medicine
2026

Use of right atrial wall to repair severely dysplastic tricuspid valve in an infant with Ebstein's anomaly.

Multimedia manual of cardiothoracic surgery : MMCTS
2026

Staged Single Ventricle Palliation with Pulmonary Artery Rehabilitation for Unguarded Tricuspid Orifice and Hypoplastic Left Pulmonary Artery.

Interdisciplinary cardiovascular and thoracic surgery
2026

Isolated left pulmonary artery of ductal origin: Reconstruction using pedicled main pulmonary artery flap.

Asian cardiovascular &amp; thoracic annals
2026

miR-124 orchestrates epicardial-mesenchymal transformation and paracrine cardiomyocyte maturation in epicardial-specific Tcf21-PKR1 knockout mice.

Stem cells (Dayton, Ohio)
2025

Virtual Reality to Enhance Understanding of Congenital Heart Disease.

Journal of cardiovascular development and disease
2025

THE COMPLEX ANOMALY OF THORACO-ABDOMINAL ECTOPIA CORDIS IN IBADAN: MAKING A CASE FOR IMPROVED NHIA COVERAGE: A CASE REPORT.

Annals of Ibadan postgraduate medicine
2025

The Role of Dynamic Echocardiography in Identifying Congenital Partial Absence of the Pericardium: A Case Report.

Journal of clinical ultrasound : JCU
2026

Bicuspidization of the unicuspid aortic valve using the pericardial advancement technique.

Asian cardiovascular &amp; thoracic annals
2025

Malignant Anomalous Aortic Origin of the Left Main Coronary Artery Managed by Ostial Reimplantation: A Case Report.

Clinical case reports
2025

Dual-Patch Technique with Ventricular Septal Defect Closure for Straddling Chordae.

Interdisciplinary cardiovascular and thoracic surgery
2025

Complete Congenital Absence of Left Pericardium: A Case Report.

Cureus
2025

Sternal Foramina Detected by Postmortem Computed Tomography in the Japanese Population: Prevalence and Developmental Patterns.

Radiology research and practice
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

Case Report: The phantom gap: a case of congenital pericardial absence revealed by advanced imaging.

Frontiers in cardiovascular medicine
2025

Congenital partial pericardial defect affecting the right ventricle in a dog.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2025

Anomalous Origin of the Left Coronary Artery From the Right Pulmonary Artery (ALCARPA): A Case Report.

Cureus
2025

[Pulmonary Enteric Adenocarcinoma Congenital Pericardial Defect Incidentally Discovered During Lung Cancer Surgery].

Kyobu geka. The Japanese journal of thoracic surgery
2025

Sox9 in the epicardium: Implications for cell invasion, differentiation, and coronary vascular development.

PloS one
2025

Video-assisted thoracoscopic excision of a bronchogenic cyst with a pericardial defect and an aortic feeding artery.

Multimedia manual of cardiothoracic surgery : MMCTS
2025

Role of strain imaging by echocardiography in pericardial diseases; a scoping review.

The international journal of cardiovascular imaging
2025

Epicardial placement of implantable cardioverter-defibrillators in adults: Technical considerations, system performance, and clinical outcomes.

Heart rhythm
2026

A missed diagnosis: a case of partial pericardial defect.

Clinical research in cardiology : official journal of the German Cardiac Society
2025

'Le plus important est invisible': congenital pericardial defect with structural, electrophysiological, and haemodynamic alterations induced by postural changes-a case report.

European heart journal. Case reports
2025

Complex management of ectopia cordis complicated by pentalogy of cantrell: Report of two cases and review of current evidence.

International journal of surgery case reports
2025

Superselective transcatheter arterial embolization in the treatment of intra-abdominal extralobar pulmonary sequestration.

Radiology case reports
2025

Right Atrial Appendage for Aortic Valve Reconstruction.

The Annals of thoracic surgery
2025

Refractory Ascites Possibly Contributed by Absent Pericardium.

JACC. Case reports
2025

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

The American surgeon
2025

Complete congenital pericardial defect found during S1 + 2 segment excision of the left upper lung by single-aperture thoracoscopy: a case report.

Journal of cardiothoracic surgery
2025

Congenital unilateral pericardial agenesis presenting as an isolated chest pain in an adolescent: a case report and comprehensive review.

Journal of cardiothoracic surgery
2025

Absent Pericardium Causing Extreme Levoposition in a Child.

Clinical case reports
2024

A Rare Surgical Case of Isolated Double-Chambered Right Ventricle Without Cardiac Malformations in an Older Female Patient.

Cureus
2024

Hybrid Coronary Revascularization in Congenital Pericardial Absence: A Case Report.

The American journal of case reports
2024

Application of right ventricular to pulmonary valved conduit in the surgical treatment of congenital heart disease.

Cardiology in the young
2024

Ectopic thymus in the neonatal period: A case report.

Radiology case reports
2025

Outcomes of the Modified Warden Procedure for Partial Anomalous Pulmonary Venous Connection Drainage to a High Location in the Superior Vena Cava.

Heart, lung &amp; circulation
2024

Short-Term Results With Ozaki Valved Conduit-A Simple Solution for Patients Needing Right Ventricle to Pulmonary Artery Conduit in a Low-Resource Setting.

World journal for pediatric &amp; congenital heart surgery
2024

Multimodality Imaging of Congenital Intrapericardial Diaphragmatic Hernia.

Radiology. Cardiothoracic imaging
2024

Complete Thoracic Ectopia Cordis in Two Lambs.

Animals : an open access journal from MDPI
2024

The falling heart: congenitally absent pericardium.

European heart journal
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

Complete Left-Sided Pericardial Congenital Absence.

Reports (MDPI)
2024

Epicardium and Coronary Vessels.

Advances in experimental medicine and biology
2023

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

Annals of pediatric cardiology
2024

Complete agenesis of pericardium in a young asymptomatic woman.

Radiology case reports
2024

Chronic Cardiac Herniation: A Peculiar Diagnosis.

Cureus
2024

Bicuspidisation of unicuspid stenotic pulmonary valve in a nine-year-old male.

Cardiology in the young
2024

[Congenital Pericardial Defect Incidentally Discovered During Lung Cancer Surgery:Report of Two Cases].

Kyobu geka. The Japanese journal of thoracic surgery
2024

Beyond Synthetics: Promising Outcomes With the Invengenx® Bovine Pericardial Patch for Ventricular Septal Defect Repair in a Young Pediatric Population.

Cureus
2024

Mitral valve repair using leaflet expansion and subpartial annuloplasty in children.

JTCVS techniques
2023

A Morphological Study of Myocardial Bridges in the Fetal Heart.

Maedica
2024

Sudden ventricular fibrillation due to absence of pericardium in left upper lobectomy -a case report.

Korean journal of anesthesiology
2023

Ozaki procedure-re-construction of aortic valve leaflets using autologous pericardial tissue: a review.

Indian journal of thoracic and cardiovascular surgery
2023

Multimodality Imaging Approach Evaluation of the Congenital Pericardial Defect: a Contemporary Review.

Current cardiology reports
2023

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

International journal of surgery case reports
2023

[Acute Aortic Dissection Escaping Cardiac Tamponade due to Congenital Pericardial Defect:Report of a Case].

Kyobu geka. The Japanese journal of thoracic surgery
2023

Pericardial agenesis - the wandering heart.

The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology
2023

Successful palliative resection of giant epimyocardial lymphatic malformation with 14 years of follow-up: a case report.

BMC cardiovascular disorders
2024

Morphogenesis of the pulmonary vein and left atrial appendage in human embryos and early fetuses.

Journal of anatomy
2023

Validation of a laser projection platform for the preparation of surgical patches used in paediatric cardiac surgery.

Interdisciplinary cardiovascular and thoracic surgery
2023

Outcomes of Surgical Repair of Tetralogy of Fallot: A Comparison Between the Adult and Pediatric Population.

Cureus
2023

Ectopia cordis with multiple ventricular septal defect and sternal cleft in a newborn: a case report.

Annals of medicine and surgery (2012)
2023

Partial Pericardial Agenesis.

Methodist DeBakey cardiovascular journal
2023

Modification of the Warden Procedure for Surgical Repair of Partial Anomalous Pulmonary Venous Connection.

World journal for pediatric &amp; congenital heart surgery
2023

Rare case of horseshoe lung associated with scimitar syndrome in Palestine: a case report.

Annals of medicine and surgery (2012)
2023

Modified central shunt in pulmonary atresia with diminutive pulmonary arteries.

Asian cardiovascular &amp; thoracic annals
2023

Successful surgical resection of a complicated left ventricular diverticulum in a neonate presented with unexplained anemia: a case report.

Annals of medicine and surgery (2012)
2023

Adult congenital horseshoe lung with bilateral pulmonary sequestration: A case report.

Acta radiologica open
2023

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

Folia morphologica
2022

Design and Functionality of a Multilumen Thoracic Access Port for Pericardial Access Under Direct Visualization.

Journal of medical devices
2022

Multi-Modality Cardiac Imaging for Pericardial Diseases: A Contemporary Review.

Reviews in cardiovascular medicine
2022

Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response.

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

A case report of congenital absence of the pericardium that was diagnosed by cardiac computed tomography angiogram (CCTA).

Radiology case reports
2022

Left Ventricular Diverticulum Mimicking Ventricular Septal Defect During Acute Coronary Syndrome: A Case Report.

Cureus
2022

Giant right coronary artery to coronary sinus fistula.

Journal of cardiac surgery
2021

[Whole exome sequencing analysis of compound heterozygous variants of CDAN1 gene in a Chinese family with non-immune hydrops fetalis].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University
2021

Congenital partial pericardial defect discovered incidentally during surgery for lung cancer: a case report and literature review.

BMC surgery
2021

Liver herniation into the pericardium mimicking a pericardial tumor: unusual presentation of trisomy 13.

Journal of ultrasonography
2021

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

Archivos peruanos de cardiologia y cirugia cardiovascular
2022

Surgical management of long-segment congenital tracheal stenosis with tracheobronchial malacia.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2022

Reconstruction of Donor Anomalous Pulmonary Vein During Lung Transplantation.

The Annals of thoracic surgery
2021

Congenital absence of the pericardium.

Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir
2021

A case of congenital partial absence of the left pericardium presenting with atypical chest pain.

Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir
2021

Left circumflex artery pericardia fistula combined with huge pseudoaneurysm: a rare case report.

BMC cardiovascular disorders
2021

High take off left main coronary artery accompanied by multicryptic left ventricle myocardium detected by cardiac computerized tomography in a young male: case report.

BMC cardiovascular disorders
2021

[Congenital Pericardial Defect Incidentally Found at Thoracoscopic Left Upper Lobe Resection:Report of a Case].

Kyobu geka. The Japanese journal of thoracic surgery
2022

Single-Leaflet Aortic Valve Reconstruction Utilizing the Ozaki Technique in Patients With Congenital Aortic Valve Disease.

Seminars in thoracic and cardiovascular surgery
2021

Relationship Between Coronary Atheroma, Epicardial Adipose Tissue Inflammation, and Adipocyte Differentiation Across the Human Myocardial Bridge.

Journal of the American Heart Association
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

Risk Factors for Reoperation After Arterial Switch Operation.

World journal for pediatric &amp; congenital heart surgery
2021

Prenatal diagnosis of cor triatriatum sinister associated with early pericardial effusion: A case report.

World journal of clinical cases
2021

Anomalous aortic origin of the left main coronary artery associated with arterial compression-Case report.

Journal of cardiac surgery
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

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

Brazilian journal of veterinary medicine
2021

Diagnostic quality of 3Tesla postmortem magnetic resonance imaging in fetuses with and without congenital heart disease.

American journal of obstetrics and gynecology
2021

Large Congenital Pericardial Cyst Presented by Palpitation and Left Ventricle Posterior Wall Compression: A Rare Case Report.

Pediatric reports
2022

Annular Indentation of the Ventricles in a Stillborn: A Case Report and Literature Review.

Fetal and pediatric pathology
2021

Congenitally Abnormal Aortic Valve Causing Coronary Obstruction and Cardiac Arrest in Infancy.

The Annals of thoracic surgery
2021

Unicuspid aortic valve repair with bicuspidization in the paediatric population.

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

Right ventricular outflow reconstruction with handmade valve conduit - A short experience from a developing country. Case series.

Annals of medicine and surgery (2012)
2021

Bronchogenic cyst in an unusual location.

Asian cardiovascular &amp; thoracic annals
2020

Pulmonary Artery Dissection Post-blunt Thoracoabdominal Trauma.

Clinical practice and cases in emergency medicine
2020

Conservative management of Cantrell syndrome: a case report.

Journal of surgical case reports
2020

Performance of the ADAPT-Treated CardioCel® Scaffold in Pediatric Patients With Congenital Cardiac Anomalies: Medium to Long-Term Outcomes.

Frontiers in pediatrics
2020

Congenital Pericardial Agenesis in Asymptomatic Individuals: Tips for the Diagnosis.

Circulation. Cardiovascular imaging
2020

A Misdiagnosed Case of Double Outlet Right Atrium Associated With Hypoplastic Right Ventricle.

World journal for pediatric &amp; congenital heart 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

Case series, contemporary review and imaging guided diagnostic and management approach of congenital pericardial defects.

Open heart
2020

Acute rupture of a sinus of Valsalva aneurysm into the right atrium: a case report and a narrative review.

BMC cardiovascular disorders
2020

Comprehensive review of pericardial diseases using different imaging modalities.

The international journal of cardiovascular imaging
2020

Beating heart thoracic aortic surgery under selective myocardial perfusion for patients with congenital aortic anomalies.

General thoracic and cardiovascular surgery
2020

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

Journal of comparative pathology
2020

The utility of aortic valve leaflet reconstruction techniques in children and young adults.

The Journal of thoracic and cardiovascular surgery
2020

Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.

American journal of medical genetics. Part A
2019

Snoopy's Heart: A Case of Complete Congenital Absence of the Pericardium.

Methodist DeBakey cardiovascular journal
2020

Hamartomas and midline anomalies in association with infantile hemangiomas, PHACE, and LUMBAR syndromes.

Pediatric dermatology
2020

Histological examination of explanted tissue-engineered bovine pericardium following heart valve repair.

Interactive cardiovascular and thoracic surgery
2019

Complete and Incomplete Pentalogy of Cantrell.

Children (Basel, Switzerland)
2019

Congenital absence of pericardium: two cases and a comprehensive review of the literature.

BJR case reports
2020

Absent pericardium and lung hypoplasia in a child with severe mitral regurgitation.

Asian cardiovascular &amp; thoracic annals
2019

Superior Vena Cava Flap to Reroute Partial Anomalous Pulmonary Venous Connection.

World journal for pediatric &amp; congenital heart surgery
2019

Double drainage of pulmonary vein associated with atrial septal defect.

Asian cardiovascular &amp; thoracic annals
2019

Extralobar pulmonary sequestration with absence of pericardium and atrial septal defect in a woman.

Journal of cardiothoracic surgery
2019

Maternal voluntary exercise mitigates oxidative stress and incidence of congenital heart defects in pre-gestational diabetes.

Journal of cellular and molecular medicine
2019

Partial Congenital Absence of The Pericardium: A Case Report.

Brazilian journal of cardiovascular surgery
2019

Autologous Patch Angioplasty of a Giant Right Coronary Artery Aneurysm and Coronary Stenosis in Kawasaki Disease.

World journal for pediatric &amp; congenital heart surgery
2019

Congenital absence of the pericardium: A rare and challenging diagnosis.

JAAPA : official journal of the American Academy of Physician Assistants
2019

The surgical treatment of anomalous origin of one pulmonary artery from the ascending aorta.

Journal of cardiothoracic surgery
2019

Multimodality Imaging for the Assessment of Pericardial Diseases.

Current cardiology reports
2019

Revisiting the infracardiac bursa using multimodal methods: topographic anatomy for surgery of the esophagogastric junction.

Journal of anatomy
2019

A Case Report of Congenitally Absent Pericardium Masquerading as Recurrent Pericarditis.

Hawai'i journal of medicine &amp; public health : a journal of Asia Pacific Medicine &amp; Public Health
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
2020

Partial Pericardial Agenesis Mimicking Arrhythmogenic Right Ventricular Cardiomyopathy.

Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine
2019

Constrictive pericarditis with a life-threatening giant pericardial cyst and pectus excavatum as unusual cause for malign cardiac arrhythmias.

Perfusion
2019

The aberrant systemic-pulmonary artery communication: three-dimensional image simulation.

Journal of cardiothoracic surgery
2019

Lobectomy for Lung Cancer With Congenital Pericardial Defect.

The Annals of thoracic surgery
2018

Complete absence of the pericardium in a competitive athlete.

Kardiologia polska
2020

Resection of left atrial appendage aneurysm and full maze procedure as curative management for stroke recurrence.

General thoracic and cardiovascular surgery
2019

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

Brazilian journal of anesthesiology (Elsevier)
2019

Imaging of Pericardial Disease.

Radiologic clinics of North America
2019

Congenital left ventricular aneurysm diagnosed with atrial septal defect.

Asian cardiovascular &amp; thoracic annals
2018

Snoopy sign: Congenital absence of the left pericardium.

Journal of medical imaging and radiation oncology
2019

Epicardial Fat Thickness in Children with Classic Congenital Adrenal Hyperplasia.

Journal of clinical research in pediatric endocrinology
2018

Left pericardial defect: A rare cause of chest pain.

Revista portuguesa de cardiologia
2018

Congenital absence of the pericardium and tricuspid regurgitation.

QJM : monthly journal of the Association of Physicians
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

Partial Hammock Valve: Surgical Repair and Long-Term Follow-Up in 23 Patients.

The Annals of thoracic surgery
2018

Asymptomatic left atrial appendage aneurysm (LAAA) with pericardial defect in a 1-year-old girl.

BMJ case reports
2018

Results 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 Surgery
2017

Multidetector Computed Tomography (CT) in Evaluation of Congenital Cyanotic Heart Diseases.

Polish journal of radiology
2018

Pulmonary vein obstruction after primary sutureless pericardial repair of a total anomalous pulmonary venous connection.

Interactive cardiovascular and thoracic surgery
2018

Superior 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 &amp; congenital heart surgery
2018

Sutureless pericardial marsupialization for the repair of congenital right pulmonary veins atresia.

Interactive cardiovascular and thoracic surgery
2018

Perivascular Epicardial Fat Stranding at Coronary CT Angiography: A Marker of Acute Plaque Rupture and Spontaneous Coronary Artery Dissection.

Radiology
2018

Left-side pericardial agenesis: Putting the pieces together.

Echocardiography (Mount Kisco, N.Y.)
2018

Repair of Morgagni hernia and ventricular septal defect through sternotomy.

Asian cardiovascular &amp; thoracic annals
2018

Repair 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 surgery
2018

Selecting the right defibrillator in the younger patient: Transvenous, epicardial or subcutaneous?

International journal of cardiology
2018

Dor procedure for pulmonary atresia with intact ventricular septum in an infant.

Interactive cardiovascular and thoracic surgery
2017

Follow-up of a simple method for aortic valve reconstruction with fixed pericardium in children.

Interactive cardiovascular and thoracic surgery
2018

Total pericardium agenesis mistaken for arrhythmogenic right ventricular cardiomyopathy.

European heart journal. Cardiovascular Imaging
2017

Sternal malformations and anesthetic management.

Paediatric anaesthesia
2017

Congenital Abnormalities of the Pericardium.

Cardiology clinics
2018

Application 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 organs
2017

Triphasic Mitral Inflow Pattern in a Patient with Congenital Absence of the Pericardium.

Internal medicine (Tokyo, Japan)
2017

Rare Cause of Pneumopericardium in a Patient Following a Motor Vehicle Collision.

The American surgeon
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

Left pericardial congenital defect: the heart shows its moves at CMR.

European heart journal. Cardiovascular Imaging
2017

Surgical treatment for double-chambered right ventricle in a septuagenarian.

Asian cardiovascular &amp; thoracic annals
2017

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

Texas Heart Institute journal
2017

Primary repair of complete sternal cleft associated with absent anterior pericardium.

Journal of cardiac surgery
2017

Epithelial tension in the second heart field promotes mouse heart tube elongation.

Nature communications
2017

Real-Time Three-Dimensional Echocardiography: Characterization of Cardiac Anatomy and Function-Current Clinical Applications and Literature Review Update.

BioResearch open access
2017

Echocardiographic diagnosis of total or left congenital pericardial absence with positional change.

Heart (British Cardiac Society)
2016

Congenital partial absence of the pericardium presenting with a rare concurrent abnormality of vascular ring diagnosed by cardiac magnetic resonance imaging.

Advanced biomedical research
2017

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

Polish journal of radiology
2016

Inflammation and Rupture of a Congenital Pericardial Cyst Manifesting Itself as an Acute Chest Pain Syndrome.

Texas Heart Institute journal
2017

Common Arterial Trunk Repair by Means of a Handmade Bovine Pericardial-Valved Woven Dacron Conduit.

World journal for pediatric &amp; congenital heart surgery
2016

Interventional Treatment of Pulmonary Lymphatic Anomalies.

Techniques in vascular and interventional radiology
2017

Congenital Absence of the Pericardium: A Systematic Approach to Diagnosis and Management.

Cardiology
2017

[Partial pericardium defect with a cardiac heart diverticulum and extensive intrauterine hypoxic myocardial lesions].

Der Pathologe
2017

Diffuse Pulmonary Lymphangiomatosis: MDCT Findings After Direct Lymphangiography.

AJR. American journal of roentgenology
2016

A rare giant pericardial cyst mimicking a paracardiac mass.

Cardiovascular journal of Africa
2016

The safe zone for blinded sternal interventions based on CT evaluation of midline congenital sternal foramina.

Skeletal radiology
2016

Natural history and life-threatening complications in Myhre syndrome and review of the literature.

European journal of pediatrics

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Doenças relacionadas

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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.

  1. Cantrell Syndrome and the One Health Perspective: A Unified Review of Human and Comparative Cases.
    Veterinary sciences· 2026· PMID 41745959mais citado
  2. miR-124 orchestrates epicardial-mesenchymal transformation and paracrine cardiomyocyte maturation in epicardial-specific Tcf21-PKR1 knockout mice.
    Stem cells (Dayton, Ohio)· 2026· PMID 41460181mais citado
  3. Pericardial Cyst at the Left Cardiophrenic Angle Mimicking Localized Effusion: A Diagnostic Dilemma.
    Cureus· 2026· PMID 41873296mais citado
  4. An Incidental Necropsy Finding: Intrathoracic Ectopic Liver in a Cat.
    Animals : an open access journal from MDPI· 2026· PMID 41828950mais citado
  5. Contemporary Review of Clinical Features, Multi-Modality Imaging, and Management of Pericardial Cysts.
    Journal of clinical medicine· 2026· PMID 41753272mais citado
  6. Congenital Absence of Pericardium: The Swinging Heart.
    J Imaging· 2024· PMID 39194988recente
  7. Left lower lobectomy without pericardial reconstruction in a patient with a congenital pericardium defect.
    Interdiscip Cardiovasc Thorac Surg· 2023· PMID 37421409recente
  8. Case report: Delayed cardiac rupture with congenital absence of pericardium after blunt trauma.
    Front Cardiovasc Med· 2022· PMID 36606282recente
  9. [Extensive partial agenesis of the left pericardium. An anatomo-clinical correlation. Report of 2 cases].
    Arq Bras Cardiol· 1989· PMID 2624551recente
  10. [Congenital pericardium defect - report of 2 cases].
    Verh Dtsch Ges Inn Med· 1977· PMID 611937recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2846(Orphanet)
  2. MONDO:0017300(MONDO)
  3. GARD:18779(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. 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

Anomalia congênita do pericárdio
Compêndio · Raras BR

Anomalia congênita do pericárdio

ORPHA:2846 · MONDO:0017300
Prevalência
Unknown
Herança
Not applicable
CID-11
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0685699
Wikidata
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