Raras
Buscar doenças, sintomas, genes...
Agenesia parcial do pericárdio congênita
ORPHA:99130CID-10 · Q24.8CID-11 · LA8DDOENÇA RARA
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Esta é uma lista de doenças que começam com a letra "P".

🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PE, BA, CE, PB +10CID-10: Q24.8
🇧🇷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
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Últimos 10 anos34publicações
Pico20255 papers
Linha do tempo
20202015Hoje · 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 — Agenesia parcial do pericárdio congênita

Centros de Referência SUS

24 centros habilitados pelo SUS para Agenesia parcial do pericárdio congênita

Centros para Agenesia parcial do pericárdio congênita

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.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

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

Methodist DeBakey cardiovascular journal2026

Partial congenital pericardial defects are exceptionally uncommon and typically asymptomatic. In rare circumstances, cardiac herniation through the defect may precipitate mechanical strangulation with extrinsic coronary artery compression and myocardial infarction (MI). We describe a young man who presented with ST-elevation MI attributed to left ventricular (LV) herniation through a previously unrecognized pericardial defect. Despite a typical clinical presentation of MI, the highly atypical angiographic and echocardiographic findings required further investigation. Cardiac magnetic resonance was crucial for excluding alternative causes of LV wall thickening and coronary artery compression, such as tumors or infiltrative diseases, and contributed to identifying the pericardial defect. Although rare, partial pericardial defects should be considered in the differential diagnosis of acute coronary syndrome, especially in young patients with atypical presentations or findings.

#2

A missed diagnosis: a case of partial pericardial defect.

Clinical research in cardiology : official journal of the German Cardiac Society2026 Mar

Congenital pericardial defects (CPDs) are rare congenital abnormalities characterized by the complete or partial absence of the pericardium. They are often asymptomatic and discovered incidentally through imaging. Some individuals can experience non-specific symptoms, whilst others can have serious complications. The gold standard for diagnosing pericardial defects is cardiac MRI. Management is case-dependent and usually reserved for partial defects. Here, we present a case of a 57-year-old male who presented with recurrent chest pain and was found to have partial pericardial defect, a diagnosis missed on prior imaging, and discuss the diagnosis and management.

#3

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

Heart, lung & circulation2025 Jan

To report the safety and effectiveness of a modified Warden procedure. Twenty-six (26) patients underwent modified Warden surgery at our centre from September 2017 to September 2021. In all patients, the superior vena cava (SVC) was reconstructed by turning the atrial wall in the main body of the right atrium upwards and applying fresh autologous pericardial patches. There were 13 male patients and 13 female patients, and the median age of the patients was 7.0 (range, 0.3-47.0) years. The median follow-up time after surgery was 47.0 (range, 32.0-80.0) months. The aortic cross-clamp time was 108.50±34.72 minutes, the cardiopulmonary bypass time was 154.81±41.65 minutes, the median postoperative mechanical ventilation time was 8.5 (range, 0.0-91.0) hours, the median intensive care unit stay was 43.5 (range, 15.0-352.0) hours, and the median length of postoperative hospital stay was 7.0 (range, 6.0-19.0) days. All patients were safely and successfully discharged from the hospital. No deaths or sinus node dysfunction occurred during the follow-up period. The mean gradient of the reconstructed SVC and/or the right pulmonary vein (PV) increased in eight patients and decreased to less than 1 mmHg in six patients. One (1) adult patient had already undergone two vascular interventions, and one child had persistent stenosis but did not undergo reoperation at the time of the study. In addition, two patients were subjected to pericardial windowing. A modified Warden technique using a right atrial flap and autologous pericardium effectively corrected the high-plane connection between the PVs and SVC. This technique effectively avoids sinus node dysfunction; however, a short-term increase in the differential pressure of the re-established SVC or PV after the procedure is acceptable, and reintervention is required only in rare cases.

#4

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 reports2025 Nov

Pentalogy of Cantrell (POC) is a rare and often fatal congenital malformation characterized by a midline developmental defect involving five anatomical structures: the lower sternum, anterior diaphragm, diaphragmatic pericardium, abdominal wall, and heart. This condition presents significant diagnostic and therapeutic challenges, particularly in resource-limited settings where advanced imaging and surgical interventions are limited. Early diagnosis, supportive care, and strategic surgical planning with a multidisciplinary team are all key components in managing patients with POC. Here we present a case of a 32-year-old female (Gravidity 2 Parity 1 Living 1) presented to our specialty hospital in Northern Tanzania at 31 weeks and 3 days of gestational age for regular antenatal visit clinic with a complain of mild lower abdominal pain for 1 week. Obstetric ultrasound revealed a single fetus with an estimated gestational age of 31 weeks and 3 days and a 3.3 cm anterior chest wall defect with partial cardiac herniation, along with herniation of the liver, bowel, kidney, and urinary bladder with thoracolumbar kyphotic deformity was also seen. The radiological findings were consistent with limb body wall complex syndrome and POC. A multidisciplinary board team of obstetrician, pediatricians, surgeons and radiologist discussed the patient and planned for medical termination of the pregnancy. The patient was discharged home after receiving a psychological care. Psychological support was provided, and the patient remained emotionally stable during the follow-up. This case highlights the antenatal diagnostic and postnatal management challenges of POC in resource-constrained settings. Patients diagnosed with this condition should receive thorough antenatal counseling regarding the associated risks of morbidity and mortality. Currently, there are no established guidelines or studies defining the optimal mode of delivery for these cases. In case of severe malformations and or confirmed chromosomal abnormalities, and where legally permissible, pregnancy termination may be considered.

#5

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

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology2025 Dec

A 1.8-year-old, 7.7-kg male mixed-breed dog was examined before castration surgery. Thoracic radiographs showed a prominent bulging of the cardiac silhouette. Echocardiography revealed a partial absence of the bright pericardial signal in the right ventricular outflow tract. Fluoroscopy revealed a bulging pulsating sac anterior to the right ventricular outflow tract. On contrast-enhanced computed tomography, a balloon-shaped right ventricular lumen protruding in the cranial direction was seen on the cranial side of the right ventricle near the pulmonary infundibulum. Accordingly, right ventricular herniation due to a partial pericardial defect was diagnosed. This report describes cardiac computed tomography in dogs with right ventricular pericardial defects; our findings highlight the usefulness of fluoroscopic examination in diagnosing pericardial defects.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 31

2026

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

Methodist DeBakey cardiovascular journal
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

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
2026

A missed diagnosis: a case of partial pericardial defect.

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

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

Journal of cardiothoracic surgery
2024

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

The American journal of 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 & circulation
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

The Heart Has its Reasons Which Reason Knows Not: A Curious Case of Chest Pain.

The Journal of emergency medicine
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 & congenital heart surgery
2023

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

Folia morphologica
2022

Reconstruction of Donor Anomalous Pulmonary Vein During Lung Transplantation.

The Annals of thoracic surgery
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

Congenital Partial Absence of Pericardium in an Elderly Patient.

Cureus
2020

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

Iranian journal of medical sciences
2020

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

Open heart
2019

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

BJR case reports
2019

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

World journal for pediatric & congenital heart surgery
2019

Partial Congenital Absence of The Pericardium: A Case Report.

Brazilian journal of cardiovascular surgery
2020

Partial Pericardial Agenesis Mimicking Arrhythmogenic Right Ventricular Cardiomyopathy.

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

Congenital Absence of the Pericardium.

Progress in cardiovascular diseases
2017

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

Der Pathologe
2016

Isolated Partial Congenital Absence of the Pericardium: A Familial Presentation.

The Canadian journal of cardiology
2015

Symptomatic Partial Congenital Absence of the Pericardium Revealed Using Cardiac Magnetic Resonance.

The Canadian journal of cardiology
2015

Congenital defects of the pericardium: a review.

European heart journal. Cardiovascular Imaging
2015

Congenital pericardial defect: a case of right pericardial partial absence with normal parietal pleura [corrected].

Japanese journal of radiology

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Agenesia parcial do pericárdio congênita.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Agenesia parcial do pericárdio congênita

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

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. Left Ventricular Pericardial Strangulation: A Diagnostic Challenge in Acute Coronary Syndrome.
    Methodist DeBakey cardiovascular journal· 2026· PMID 41725857mais citado
  2. A missed diagnosis: a case of partial pericardial defect.
    Clinical research in cardiology : official journal of the German Cardiac Society· 2026· PMID 40338327mais citado
  3. Outcomes of the Modified Warden Procedure for Partial Anomalous Pulmonary Venous Connection Drainage to a High Location in the Superior Vena Cava.
    Heart, lung & circulation· 2025· PMID 39394030mais citado
  4. 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· PMID 41056657mais citado
  5. 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· PMID 40840406mais citado
  6. Pericardial agenesis.
    Int J Cardiovasc Imaging· 2025· PMID 40773027recente
  7. Congenital unilateral pericardial agenesis presenting as an isolated chest pain in an adolescent: a case report and comprehensive review.
    J Cardiothorac Surg· 2025· PMID 39955569recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:99130(Orphanet)
  2. MONDO:0020455(MONDO)
  3. GARD:19667(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55789395(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

Compêndio · Raras BR

Agenesia parcial do pericárdio congênita

ORPHA:99130 · MONDO:0020455
CID-10
Q24.8 · Outras malformações congênitas especificadas do coração
CID-11
MedGen
UMLS
C0345139
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades