Raras
Buscar doenças, sintomas, genes...
Defeito do septo atrial, tipo ostium primum
ORPHA:99106CID-10 · Q21.2DOENÇA RARA

Defeito do septo atrioventricular com comunicação apenas em nível atrial.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Defeito do septo atrioventricular com comunicação apenas em nível atrial.

Publicações científicas
43 artigos
Último publicado: 2024 Jun 20
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q21.2
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

❤️
Coração
15 sintomas
🫁
Pulmão
6 sintomas
🦴
Ossos e articulações
2 sintomas
🩸
Sangue
1 sintomas
📏
Crescimento
1 sintomas

+ 13 sintomas em outras categorias

Características mais comuns

55%prev.
Desdobramento fixo da segunda bulha cardíaca
Frequente (79-30%)
55%prev.
Sopro cardíaco sistólico
Frequente (79-30%)
55%prev.
Regurgitação mitral
Frequente (79-30%)
55%prev.
Bloqueio atrioventricular de primeiro grau
Frequente (79-30%)
55%prev.
Bloqueio do ramo direito
Frequente (79-30%)
55%prev.
Intervalo PR prolongado
Frequente (79-30%)
38sintomas
Frequente (17)
Ocasional (21)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 38 características clínicas mais associadas, ordenadas por frequência.

Desdobramento fixo da segunda bulha cardíacaFixed splitting of the second heart sound
Frequente (79-30%)55%
Sopro cardíaco sistólicoSystolic heart murmur
Frequente (79-30%)55%
Regurgitação mitralMitral regurgitation
Frequente (79-30%)55%
Bloqueio atrioventricular de primeiro grauFirst degree atrioventricular block
Frequente (79-30%)55%
Bloqueio do ramo direitoRight bundle branch block
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa5
Total histórico43PubMed
Últimos 10 anos200publicações
Pico202450 papers
Linha do tempo
2021Hoje · 2026📈 2024Ano 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

Genes associados

1 gene identificado com associação a esta condição.

Autosomal dominantNot applicable
TLL1Tolloid-like protein 1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (4)
Degradation of the extracellular matrixCollagen biosynthesis and modifying enzymesCrosslinking of collagen fibrilsAnchoring fibril formation
MECANISMO DE DOENÇA

Atrial septal defect 6

A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.

EXPRESSÃO TECIDUAL(Tecido-específico)
Cérebro - Hemisfério cerebelar
13.9 TPM
Cerebelo
11.4 TPM
Tecido adiposo
5.5 TPM
Mama
4.7 TPM
Adipose Visceral Omentum
4.2 TPM
INTERAÇÕES PROTEICAS (2)
OUTRAS DOENÇAS (3)
atrial septal defect 6atrial septal defect, ostium primum typeatrial septal defect, ostium secundum type
HGNC:11843UniProt:O43897

Variantes genéticas (ClinVar)

58 variantes patogênicas registradas no ClinVar.

🧬 TLL1: GRCh38/hg38 4q32.1-35.2(chr4:157628420-189863176)x1 ()
🧬 TLL1: GRCh37/hg19 4q32.1-35.2(chr4:161355371-190957473)x3 ()
🧬 TLL1: NM_012464.5(TLL1):c.633-70A>G ()
🧬 TLL1: NM_012464.5(TLL1):c.605A>G (p.Tyr202Cys) ()
🧬 TLL1: GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Defeito do septo atrial, tipo ostium primum

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

ROBO2 Variants Associated With Atrial Septal Defect Define a Novel Regulatory Element.

Circulation. Genomic and precision medicine2026 Feb 16

Atrial septal defects (ASDs) are a prevalent type of congenital heart disease. Previous GWAS (Genome-Wide Association Studies) have identified common variants associated with ASDs, though their mechanisms remain unknown. We aimed to expand insights into the architecture of common variants associated with ASD risk and elucidate functional mechanisms. We conducted a GWAS using isolated ASD cases and healthy controls and replicated findings in an independent cohort. We examined epigenetic marks within this ASD locus in human induced pluripotent stem cell-derived cardiomyocytes and fetal human hearts. We characterized the consequences of deletions introduced by CRISPR-Cas9 mutagenesis of human induced pluripotent stem cells to assess the effect on downstream gene expression. In addition, we investigated the 3-dimensional genome architecture of the locus using chromosome conformation capture sequencing. We identified a novel ASD locus on chromosome 3p12.3 encompassing the ROBO2 gene, which encodes the Roundabout guidance receptor 2 for Slit ligands. This locus includes 15 common single nucleotide polymorphisms, an enhancer, and a CTCF-binding site. Deletions of varying lengths within the ASD-associated locus in human induced pluripotent stem cell-derived cardiomyocytes reduced ROBO2 expression and dysregulated the expression of extracellular matrix genes. Chromosome conformation capture sequencing indicated that this region physically interacts with the ROBO2 promoter and demonstrates that the CTCF-binding site is essential for this contact. Novel common single nucleotide polymorphisms in regulatory elements controlling ROBO2 transcription contribute to risk for ASDs. These data infer key roles for the Roundabout guidance receptor 2 and Slit ligands in embryogenic development and maturation of the atrial septa.

#2

Feasibility of atrial septal defect type II occluders determined by computed tomography virtual cardioscope.

Frontiers in radiology2026

This study aims to assess the suitability of large ASD type II occluders by evaluating the locations of the ASD and its extensions, as well as the adequacy of the rim, through the utilization of CT virtual cardioscopy. Atrial septal defects (ASDs) represent the most frequent congenital heart abnormalities observed in adults and the second most prevalent in infants. There has been a notable paradigm shift over the past four decades which percutaneous transcatheter closure as the preferred treatment modality over traditional surgical method. We conducted a retrospective descriptive study on patients with type II ASD who undergone transcatheter and surgical closure from January 2007 to April 2023. Rigorous exclusion criteria were applied to ensure a homogeneous study population and enhance the validity of research findings. All MDCT measurements were performed independently in a blinded manner. Statistical analysis was performed using independent T-test and Chi-square. A total of 24 patients were evaluated by virtual cardioscope. Eighteen patients underwent successful occlusion therapy for ASD without complications. Six patients underwent surgery to close the interatrial defect. Patients who undergone transcatheter approach were older than patients in the surgical group. There were no differences between the 2 groups in regard to long axis and short axis in MDCT (all p > 0.05). The rimless angle in the operation group is larger than the operation group and there were differences between the 2 groups (p < 0,05). Location and extension of the defect did not have significant association in determining treatment procedure. Accurate morphological assessment play a crucial role in assessing the suitability of either a percutaneous approach or surgical correction for atrial septal defects (ASD).

#3

Late Diagnosis of Unroofed Coronary Sinus Associated with Persistent Left Superior Vena Cava in Patient with Repaired Tetralogy of Fallot: Case Report.

Life (Basel, Switzerland)2026 Feb 16

Background: An unroofed coronary sinus (UCS) is a rare congenital cardiac anomaly, accounting for less than 1% of atrial septal defects and frequently associated with a persistent left superior vena cava (PLSVC). Its coexistence with Tetralogy of Fallot (TOF) is exceptionally uncommon and has been reported almost exclusively in isolated case reports. Case Presentation: We report the case of a 20-year-old woman with a history of surgically corrected TOF in infancy, who presented with progressive exertional dyspnea. Multimodality imaging, including transthoracic echocardiography and cardiac magnetic resonance imaging, revealed a large atrial-level shunt caused by a type I unroofed coronary sinus associated with a persistent left superior vena cava, leading to significant right-sided chamber dilation and pulmonary hypertension. Notably, this anomaly had not been identified at the time of the initial TOF repair. The patient underwent a successful surgical correction with interatrial compartmentation and tricuspid annuloplasty, with an uneventful postoperative course. Conclusions: This case underscores the extreme rarity of the UCS-TOF association and highlights the potential for UCSs with PLSVC to remain clinically silent for years after complex congenital heart surgery. A comprehensive reassessment of the systemic venous and atrial anatomy using advanced multimodality imaging is essential in symptomatic adults with repaired TOF, as late-presenting venous anomalies may have significant hemodynamic and clinical implications.

#4

Percutaneous closure of an ultra-long-tunnel-type patent foramen ovale: a rare case with multimodal imaging guidance.

BMC cardiovascular disorders2026 Feb 03

Patent foramen ovale (PFO) is a common congenital cardiac anomaly, and ultra-long tunnel PFO (> 20 mm) presents a significant interventional challenge despite routine standard closure. A 68-year-old female with recurrent headaches, chest pain history, and prior right coronary artery stenting was confirmed to have a 37-mm ultra-long tunnel PFO via transesophageal echocardiography (TEE) and digital subtraction angiography (DSA). After initial percutaneous closure failure, the patient was successfully treated with a modified trans-tunnel puncture technique and deployment of an Abbott 18/25 mm Amplatzer PFO Occluder. Follow-up showed gradual resolution of residual shunt, with no shunt detected by June 2025. The imaging-guided modified trans-tunnel puncture technique is an effective strategy for complex ultra-long tunnel PFOs.

#5

Outcome in Patients with Secundum Type Atrial Septal Defect Referred for Percutaneous or Surgical Closure: A Single-Center Experience.

The Thoracic and cardiovascular surgeon2026 Jan

This single-center, retrospective analysis presents data from 611 patients with a secundum type atrial septal defect (ASD II) closure. Included were patients >2 years of age. Patients presented at a median (range) age of 6.95 (2-86) years for interventional closure of ASD II. Out of 611 patients, 215 underwent intracardiac repair based on transthoracic echocardiography (ECHO) findings. Transcatheter device closure was attempted and successfully performed in 300 out of 396 patients (Amplatzer™ Septal Occluder [ASO], n = 290 patients). Follow-up was 3.3 years (1 day-21.8 years) in patients with interventional closure of ASD II and 0.7 years (3 days-14.7 years; p < 0.001; Mann-Whitney) in patients after surgical closure. There was no in-hospital mortality in both groups. One patient, after Amplatzer device closure with an absent aortic rim, developed erosion, which was treated by cardiac surgery and patch closure of ASD II. Two patients showed dislocation of the device. In 231 out of 396 patients, right ventricular dimension normalized completely as determined on the last follow-up visit. Six patients at a median age of 60 (49.4-68.7) years presented with atrial fibrillation, which persisted after ASD II closure. About 26 patients (6.6%) showed pulmonary hypertension (PH), with 1 presenting with coincidental ASD II and severe PH. Closure of ASD II can be accomplished safely by interventional catheterization and intracardiac repair. In most cases, perioperative transthoracic and transesophageal ECHO is sufficient to decide whether a surgical approach or interventional closure is the best option to close the defect.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Feasibility of atrial septal defect type II occluders determined by computed tomography virtual cardioscope.

Frontiers in radiology
2026

Late Diagnosis of Unroofed Coronary Sinus Associated with Persistent Left Superior Vena Cava in Patient with Repaired Tetralogy of Fallot: Case Report.

Life (Basel, Switzerland)
2026

ROBO2 Variants Associated With Atrial Septal Defect Define a Novel Regulatory Element.

Circulation. Genomic and precision medicine
2026

Percutaneous closure of an ultra-long-tunnel-type patent foramen ovale: a rare case with multimodal imaging guidance.

BMC cardiovascular disorders
2026

Outcome in Patients with Secundum Type Atrial Septal Defect Referred for Percutaneous or Surgical Closure: A Single-Center Experience.

The Thoracic and cardiovascular surgeon
2026

Anaesthetic Management of a Case of Minimally Invasive Surgical Repair of Sinus Venosus Atrial Septal Defect (SVASD) and Persistent Left Superior Vena Cava (LSVC), Assisted by Unique Bilateral Percutaneous Superior Vena Cava Cannulation.

Annals of cardiac anaesthesia
2026

Paradoxical air embolism in patient with patent foramen ovale during liver transplant.

Revista espanola de anestesiologia y reanimacion
2026

Atrial septal pouch: a comprehensive morphologic and morphometric evaluation with clinical relevance.

Surgical and radiologic anatomy : SRA
2025

Single incision minimally invasive congenital heart surgery: Insights into program development and outcome.

The Journal of thoracic and cardiovascular surgery
2025

Case Report: Concurrent atrial and ventricular septal defect in a young Sphynx cat.

Frontiers in veterinary science
2025

Machine learning-based predictive model for atrial arrhythmia following transcatheter atrial septal defect closure.

International journal of cardiology. Congenital heart disease
2025

The relation between Down syndrome and co-occurring conditions in children and young adults: A population-based cohort in Denmark, 1977-2016.

Research in developmental disabilities
2026

Follow-Up of Neonatally Diagnosed Atrial Septal Defects and Patent Foramen Ovale at Preschool Age.

Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography
2025

Beyond the murmur: unmasking a rare sinus venosus ASD in an adolescent with chronic respiratory infections: A case report.

Medicine
2025

Development of a 3D-printed canine cardiac disease model for interventional procedure training.

Alternatives to laboratory animals : ATLA
2025

Biventricular Interatrial Shunt With Desaturation After Atrial Septal Defect Repair.

JACC. Case reports
2025

Long-term outcomes of Eisenmenger syndrome in the era of targeted pulmonary vasodilator therapy.

The National medical journal of India
2025

Multisystem Phenotypic Spectrum in Pediatric Heterotaxy Syndrome: A Case Series.

Cureus
2025

From Catheter Complication to Surgical Success: Urgent Retrieval of an Embolized Amplatzer Device and Valve Repair.

Reports (MDPI)
2025

A Rare Case of Chronic Thromboembolic Pulmonary Hypertension in an Elderly With Atrial Septal Defect and Eisenmenger Syndrome.

Cureus
2026

Transcatheter closure of ostium secundum atrial septal defects in 2253 children and adults: Early outcomes.

Archives of cardiovascular diseases
2025

The deficiency of DIP2C leads to congenital heart defects in patients with 10p15.3 microdeletion syndrome.

Gene
2025

Prevalence, classification, and treatment of residual shunt after patent foramen ovale closure.

EuroIntervention : journal of EuroPCR in collaboration with the Working Group on Interventional Cardiology of the European Society of Cardiology
2025

A case of anomalous right coronary artery from the pulmonary trunk, aortopulmonary window, and interrupted aortic arch type a in a term neonate.

Annals of pediatric cardiology
2025

Incidence, Associated Abnormalities, and Outcomes of Dextrocardia: A Registry-based Study in Saudi Arabia.

Journal of the Saudi Heart Association
2025

The relationship of NOS3 G894 T (rs1799983) gene polymorphism in the risk of congenital heart disease: a meta-analysis and bioinformatics study.

Naunyn-Schmiedeberg's archives of pharmacology
2025

Mitral and tricuspid valve repair in an operated case of complete atrioventricular septal defect: A surgical challenge case report!

SAGE open medical case reports
2025

PFO closure in a patient with hypoxia due to tricuspid valve regurgitation and flow-driven shunt.

BMJ case reports
2026

Assessment of tricuspid annulus geometry in children with congenital heart disease using three-dimensional echocardiography.

Revista espanola de cardiologia (English ed.)
2025

Open atrial septal defect repair in a dog using fresh autologous pericardium.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2024

Mixed Inferior Sinus Venosus and Secundum Atrial Septal Defects with Mixed Partial Anomalous Pulmonary and Systemic Venous Drainage: Key Insights and Practical Implications.

The journal of Tehran Heart Center
2025

Case Report: Thoracoscopic repair of a residual inferior sinus venosus-type defect with right lower pulmonary vein-inferior vena cava communication: intraoperative support using real-time 3D transesophageal echocardiography.

Frontiers in cardiovascular medicine
2026

The association analysis between Glucose-6-Phosphate dehydrogenase deficiency and susceptibility to common diseases in children.

Pediatric research
2025

Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: A Report of Two Cases and Literature Review.

Molecular syndromology
2025

Genome-Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS.

Genetic epidemiology
2025

Successful experience of transcatheter residual right-to-left shunting closure after patent foramen ovale occlusion.

Cardiology journal
2025

Clarifying the cardiovascular morphology and associated abnormalities in patients with tricuspid Atresia using multidetector computed tomography angiography.

The international journal of cardiovascular imaging
2025

Quantitative Volumetric Analysis of the Patent Foramen Ovale Tunnel in Coronary Computed Tomography Angiography: Clinical Implications and Diagnostic Significance.

Journal of computer assisted tomography
2025

Current Trends in Device and Size Selection for Transcatheter Atrial Septal Defect Closure in Adults - Insights From a Japanese Nationwide Registry.

Circulation journal : official journal of the Japanese Circulation Society
2025

Risk factor analysis for cardiac abnormalities in patients with idiopathic scoliosis.

Scientific reports
2025

Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review.

International journal of molecular sciences
2025

[Finite Element Simulation Analysis of a Nickel-Titanium Alloy Patent Foramen Ovale Occluder].

Zhongguo yi liao qi xie za zhi = Chinese journal of medical instrumentation
2025

Invasive management of unroofed coronary sinus: A systematic review.

Trends in cardiovascular medicine
2025

Safety and one-year follow-up analysis of percutaneous ASD closure at a tertiary care hospital.

Indian heart journal
2025

Hemodynamic Changes After Wire Frame Occluders vs. Metal Mesh Devices for Atrial Septal Defect.

Circulation journal : official journal of the Japanese Circulation Society
2025

Characteristics and postoperational outcomes in paediatric patients with coronary sinus septal defect: a retrospective cohort study.

Cardiology in the young
2025

Association of atrial cardiopathy and residual shunt after patent foramen ovale closure in patients experiencing migraine.

European journal of medical research
2025

Performance against standardization recommendations for outpatient care of common forms of congenital heart disease.

Cardiology in the young
2025

A Comparison of Long-Term Right Ventricular Functions in Children with Transcatheter and Surgically Closed Secundum Atrial Septal Defects (ASDs): A Strain Echocardiography Study.

Diagnostics (Basel, Switzerland)
2025

Prevalence of scoliosis and congenital heart disease based on school screening in Jinghong City, Yunnan Province.

Frontiers in public health
2025

National practice patterns for the use of regional anesthesia for pediatric cardiac surgery: An analysis of the Society of Thoracic Surgeons congenital heart surgery database.

Journal of clinical anesthesia
2026

Clarifying the Cardiovascular Morphology and Associated Abnormalities in Patients with Double Inlet Right Ventricle Using Multidetector CT Angiography.

Pediatric cardiology
2024

Evaluation of short-term consequences of atrial septal defect closure in adults referred to Shahid Chamran heart center in Isfahan.

ARYA atherosclerosis
2024

Bilateral thalamic infarction with posterior cerebral artery variant (the arcade artery): A case report.

Medicine
2025

Prevalence of Congenital Heart Disease in Children and Adolescents Under 18 in Africa: A Systematic Review and Meta-Analysis.

World journal for pediatric &amp; congenital heart surgery
2024

[Immediate outcomes of simultaneous Cox-Maze procedure in patients with isolated and multivalvular heart defects via right mini-thoracotomy].

Khirurgiia
2024

Epidemiology of Congenital Heart Defects in Perinatal Infants in Guangxi, China.

International journal of general medicine
2025

Case presentation: successful occlusion of congenital left ventricle to coronary sinus fistula.

Cardiology in the young
2024

Paradoxical cerebral embolism caused by patent foramen ovale in a patient with multiple endocrine neoplasia type 1 and severe primary hyperparathyroidism.

BMJ case reports
2025

Thoracoscopic closure of atrial septal defect in perfused beating hearts.

Surgical endoscopy
2024

COMPARATIVE ANALYSIS OF THE CLINICAL RESULTS OF PATIENTS WITH ASD OPERATED VIA RIGHT ANTERIOR MINITHORACOTOMY AND MEDIAN STERNOTOMY.

Georgian medical news
2024

Double innominate vein in a case with double aortic arch: a case report.

Journal of cardiothoracic surgery
2024

Influence of procedural timing on the preventive yield of percutaneous patent foramen ovale closure.

Open heart
2024

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report.

BMC pediatrics
2024

Echocardiography-guided percutaneous closure of oval-shaped secundum atrial septal defects.

BMC cardiovascular disorders
2024

Missense mutations in the CITED2 gene may contribute to congenital heart disease.

BMC cardiovascular disorders
2024

Long-Term Results of the Atrial Septal Defect Occluder ASSURED Trial for Combined Pivotal/Continued Access Cohorts.

JACC. Cardiovascular interventions
2024

Ischemic Stroke in Adults With Congenital Heart Disease: Cumulative Incidence and Associated Factors.

Journal of the American Heart Association
2024

Genome-wide association studies of Down syndrome associated congenital heart defects.

medRxiv : the preprint server for health sciences
2024

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
2024

Diagnosis of Congenital Heart Disease in Adulthood: How Often, How Relevant?

The American journal of cardiology
2024

Snare device retrieval of occluder embolized in patent foramen ovale closure: A case report.

Medicine
2024

Epidemiology of paediatric chronic heart failure in Germany-A population-based analysis.

ESC heart failure
2024

Interatrial Septum Assessment by Transthoracic Echocardiography Part 1: Secundum ASD.

Methodist DeBakey cardiovascular journal
2024

A very rare fetal echocardiography diagnosis: Sinus venosus type atrial septal defect with pulmonary venous return abnormality.

Journal of clinical ultrasound : JCU
2024

Holt-Oram Syndrome With Atrial Septal Defect.

Cureus
2024

Antithrombotic Therapy Following Structural Heart Disease Interventions: Current Status and Future Directions.

Reviews in cardiovascular medicine
2024

Recent Development of Biodegradable Occlusion Devices for Intra-Atrial Shunts.

Reviews in cardiovascular medicine
2024

Atrial Septal Defect (ASD) Repair Unveiling an Unusual Conduction Conundrum: A Wenckebach Case Report.

Cureus
2024

Association between patent foramen ovale morphology and clinical outcomes following transcatheter closure.

International journal of cardiology
2024

Complex ADHD Challenging Case: Managing Co-Occurring Attention-Deficit Hyperactivity Disorder and Congenital Heart Disease with a Limited Medication Formulary: A Case from Mexico.

Journal of developmental and behavioral pediatrics : JDBP
2024

Three-dimensional transesophageal echocardiography measurements of ASD sizing parameters in comparison to balloon sizing method in percutaneous ASD closure.

Echocardiography (Mount Kisco, N.Y.)
2024

The association of right ventricular-pulmonary arterial coupling and pulmonary vascular resistance in adult patients with uncorrected atrial septal defect.

BMC cardiovascular disorders
2025

Age-Related Variations in Patterns of Patent Foramen Ovale-Stroke versus Other Cryptogenic Stroke.

Cerebrovascular diseases (Basel, Switzerland)
2024

Does this child just have an atrial septal defect? More potentiality of interventional therapy: A rare case report.

International journal of surgery case reports
2024

Left ventricle-right atrial communication: A specific type of ventricular septal defect.

Journal of clinical ultrasound : JCU
2024

Infant Barlow's Disease in Association with Atrial Septal Defect.

Brazilian journal of cardiovascular surgery
2024

Interventional heart catheterization to close atrial septal defect, patent ductus arteriosus, ventricular septal defect in a 3.5-year-old girl; a case report study.

Journal of surgical case reports
2025

Co-occurrence of patent foramen ovale and Chiari network in a diabetic patient.

The Medico-legal journal
2024

Atrial Septal Abnormalities and Cryptogenic Stroke: A Cross-Sectional Study.

Cardiovascular &amp; hematological disorders drug targets
2024

Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.

Diagnostics (Basel, Switzerland)
2025

Complications and Efficacies of Surgical Versus Transcatheter Closure for Pediatric Ostium Secundum Atrial Septal Defect: A Meta-Analysis.

Journal of endovascular therapy : an official journal of the International Society of Endovascular Specialists
2024

Antithrombin deficiency caused by SERPINC1 gene mutation in white matter lesions: A case report.

Medicine
2024

Headache patterns in patent foramen ovale patients: beyond migraine with aura.

Journal of neural transmission (Vienna, Austria : 1996)
2024

Risk factors for isolated atrial septal defect secundum morbidity.

Scientific reports
2024

Complete free wall isolation of arrhythmogenic persistent left superior vena cava.

Journal of cardiovascular electrophysiology
2024

Cerebral Embolism and MINOCA Secondary to Left Atrial Myxoma after Occlusion of Atrial Septal Defect by Amplatzer Occluder: A Case Report.

The heart surgery forum
2024

Calmodulin mutation in long QT syndrome 15 associated with congenital heart defects further complicated by a functional 2:1 atrioventricular block: Management from foetal life to postpartum.

Indian pacing and electrophysiology journal
2024

Left Atrial Stiffness Increases after Trans-Catheter Atrial Septal Closure.

Journal of clinical medicine
2024

Type-I umbilical-systemic shunt with abnormal connection to azygos vein in fetus with de-novo TBX5 mutation related to Holt-Oram syndrome.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2024

Comparative evaluation of microprobe versus conventional transoesophageal echocardiography for PFO closure guidance.

Open heart
2024

Amplatzer Vascular Plug closure of an iatrogenic interatrial tunnel-type communication.

Cardiology in the young
2023

Lutembacher's Syndrome Accompanied by Partial Anomalies of Pulmonary Veins in a 70-Year-Old Male: A Case of Congenital Heart Disease in the Elderly.

European journal of case reports in internal medicine
2023

Case report: Amplatzer septal occluder device migration into the descending thoracic aortic isthmus: percutaneous retrieval and redeployment.

Frontiers in cardiovascular medicine
2023

[An unexpected case of right heart dilation in the elderly].

Giornale italiano di cardiologia (2006)
2023

Cor triatriatum sinister with dextrocardia in association with ostium secundum atrial septal defect, subpulmonary ventricular septal defect and bicuspid pulmonary valve in a pig.

Journal of comparative pathology
2024

Long-term follow-up of percutaneous secundum-type atrial septal defect closure using Amplatzer Septal Occluder since 1995: a single-centre study.

Cardiology in the young
2024

Comparing apples to apples: Exploring public reporting of congenital cardiac surgery outcomes based on common congenital heart operations.

The Journal of thoracic and cardiovascular surgery
2023

Elevated risk for developmental disabilities in children with congenital heart defects.

Birth defects research
2024

Maternal Blood Group Is a Possible Predictor for Developing Congenital Heart Disease in Turkish Children with Down's Syndrome.

Journal of pediatric genetics
2023

Congenital Heart Defects and Outcome in a Large Cohort of Down Syndrome: A Single-Center Experience from Turkey.

Turkish archives of pediatrics
2023

Case report: A unique quadruple coexisting anomaly-scimitar syndrome, atrial septal defect, vascular ring, and pulmonary sequestration.

Frontiers in pediatrics
2023

New-onset atrial fibrillation after percutaneous patent foramen ovale closure: a meta-analysis.

Clinical research in cardiology : official journal of the German Cardiac Society
2023

15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature.

American journal of medical genetics. Part A
2023

Atrial Septal Defect: Larger Right Ventricular Dimensions and Atrial Volumes as Early as in the First Month After Birth-a Case-Control Study Including 716 Neonates.

Pediatric cardiology
2023

Left atrial disc device thrombosis after atrial defect closure with the Gore® Cardioform septal occluder: A case series.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2023

Incidence of cardiac anomalies in congenital vertebral deformity: systematic review and meta-analysis of 2910 patients.

European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society
2023

Effects of morphological characteristics of patent foramen ovale by transesophageal echocardiography on minimalist transcatheter closure in southern China.

Echocardiography (Mount Kisco, N.Y.)
2023

Caroli syndrome associated with atrial septal defect and polydactyly: a case report.

Journal of medical case reports
2023

Prevalence and Associated Factors of Congenital Heart Disease in Cleft Lip and Palate Patients at the University of Benin Teaching Hospital.

Nigerian medical journal : journal of the Nigeria Medical Association
2023

Clinical utility of repeat fetal echocardiography in congenital heart disease.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2023

A Single Center Observational Study of Spirometry Assessments in Children with Congenital Heart Disease after Surgery.

Medicina (Kaunas, Lithuania)
2023

Extra-cardiac and complex Fontan baffle fenestration using radio frequency current via surgical electrocautery.

Cardiology in the young
2023

Echocardiographic right ventricular remodeling after percutaneous atrial septal defect closure.

International journal of cardiology. Congenital heart disease
2023

Unrecognized Patent Foramen Ovale in Patient With Sinus Venosus-Type Atrial Septal Defect With Partial Anomalous Pulmonary Venous Return.

A&amp;A practice
2023

Effect of percutaneous closure on atrium and appendage functions in patients with secundum atrial septal defects.

The international journal of cardiovascular imaging
2023

When a Hypersomnolent Hemodialyzed Patient Actually Has a Rare Stroke: A Case of Artery of Percheron Infarction With Paradoxical Embolism.

The neurologist
2023

Percutaneous Treatment of Left Main Coronary Artery Compression in a Pulmonary Artery Hypertension Patient Associated with Atrial Septal Defect.

Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir
2023

The relationship between echocardiographic parameters and albumin bilirubin (ALBI) score in patients with isolated secundum type atrial septal defect.

Echocardiography (Mount Kisco, N.Y.)
2023

Cardiac anomalies in children with congenital duodenal obstruction: a systematic review with meta-analysis.

Pediatric surgery international
2023

Impact of the antiplatelet strategy following patent foramen ovale percutaneous closure.

European heart journal. Cardiovascular pharmacotherapy
2023

The Need for Surgery After Vascular or Cardiac Trauma, or Technical Adverse Events in the Congenital Cardiac Catheterization Laboratory.

Pediatric cardiology
2023

Catheter ablation of left atrial tachycardia adjacent to a septal closure device: A multifaceted challenge?

Pacing and clinical electrophysiology : PACE
2023

Outcome of transcatheter atrial septal defect closure in a nationwide cohort.

Annals of medicine
2023

Surgical correction of a ventricular septal defect in a child with spinal muscular atrophy type 2 treated with nusinersen sodium: a case report.

Journal of cardiothoracic surgery
2023

Sufficient versus deficient rims during percutaneous closure of ostium secundum type atrial septal defect: A systematic review and meta-analysis.

Indian heart journal
2023

The Yasui procedure with a modified right ventricle-to-pulmonary artery connection utilizing autologous left atrial appendage as a free graft.

Multimedia manual of cardiothoracic surgery : MMCTS
2023

Massively Hypertrophied Right-Sided Heart with Hypoplastic Left-Sided Heart in a Neonate (A Rare Type of Hypertrophic Cardiomyopathy).

The American journal of cardiology
2022

Augmented detection of septal defects using advanced optical coherence tomography network-processed phonocardiogram.

Frontiers in cardiovascular medicine
2022

The value of cardiac CT in the diagnosis of unroofed coronary sinus syndrome.

BMC cardiovascular disorders
2023

Neonatal mortality and morbidity in Down syndrome in the time of prenatal aneuploidy testing: a retrospective cohort study.

European journal of pediatrics
2022

The anomalous drainage of the inferior vena cava into the left atrium.

The Turkish journal of pediatrics
2022

Trans-catheter closure of ASD and abnormal connection of left pulmonary vein to vertical vein: A case report.

Medicine
2022

Multimodality imaging approach of patent foramen ovale: Practical considerations for transient ischemic attack/stroke.

Journal of clinical ultrasound : JCU
2022

Transcatheter Atrial Septal Defect Closure Before Versus After Adulthood.

Journal of the Saudi Heart Association
2022

Identification and functional analysis of genetic variants of ISL1 gene promoter in human atrial septal defects.

The journal of gene medicine
2022

Transcatheter Closure of Patent Foramen Ovale in Patients With Peripheral (Noncerebrovascular) Embolism.

The Journal of invasive cardiology
2022

Surgical correction of total anomalous pulmonary venous return in an adult patient.

Journal of cardiothoracic surgery
2023

Transcatheter retrieval of atrial septal defect and patent ductus arteriosus occluder: a guidance for device retrieval based on comprehensive bench tests.

Cardiology in the young
2022

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.

Italian journal of pediatrics
2022

Catheter Ablation for Atrial Fibrillation in Adult Congenital Heart Disease: An International Multicenter Registry Study.

Circulation. Arrhythmia and electrophysiology
2023

Monitoring for atrial fibrillation prior to patent foramen ovale closure after cryptogenic stroke.

International journal of stroke : official journal of the International Stroke Society
2022

Concomitant cardiovascular malformations in isolated bicuspid aortic valve disease: a retrospective cross-sectional study and meta-analysis.

Cardiovascular diagnosis and therapy
2022

Transcatheter closure of secundum atrial septal defect using Cocoon septal occluder: immediate and long-term results.

The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology
2022

Functional Echocardiographic and Serum Biomarker Changes Following Surgical and Percutaneous Atrial Septal Defect Closure in Children.

Journal of the American Heart Association
2024

Coronary artery embolism and acute coronary syndrome: A critical appraisal of existing data.

Trends in cardiovascular medicine
2022

Cardiac remodeling after atrial septal defects device closure.

Echocardiography (Mount Kisco, N.Y.)
2022

[Prevalence of congenital malformations in newborns in the Araucanía region].

Andes pediatrica : revista Chilena de pediatria
2022

A hitherto unreported combination of pulmonary stenosis, single coronary artery anomaly, and coronary sinus to left atrial communication.

Journal of cardiac surgery
2022

Echocardiographic evaluation of total anomalous pulmonary venous connection: Comparison of obstructed and unobstructed type.

Medicine
2022

A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant.

Congenital anomalies
2023

Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project.

Journal of medical genetics
2022

TBX5 variant with the novel phenotype of mixed‑type total anomalous pulmonary venous return in Holt‑Oram Syndrome and variable intrafamilial heart defects.

Molecular medicine reports
2022

Shunt in critically ill Covid-19 ARDS patients: Prevalence and impact on outcome (cross-sectional study).

Journal of critical care
2022

The Impact of Physical Activity Restrictions on Health-Related Fitness in Children with Congenital Heart Disease.

International journal of environmental research and public health
2022

Autosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature.

Molecular biology reports
2022

PTPN11 Gene Mutations and Its Association with the Risk of Congenital Heart Disease.

Disease markers
2022

Lutembacher Syndrome with Sinus Venosus-Type Interatrial Communication: An Educational Presentation.

Brazilian journal of cardiovascular surgery
2022

Imaging characteristics and associations of left atrioventricular valve atresia and patent aortic root with isometric atrial appendages on multidetector CT.

Journal of cardiac surgery
2022

Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.

Clinical genetics
2022

Congenital heart diseases trends in São Paulo State, Brazil: a national live birth data bank analysis.

World journal of pediatrics : WJP
2022

Incidence, Risk Factors, and Outcomes of Atrial Arrhythmias in Adult Patients With Atrioventricular Septal Defect.

JACC. Clinical electrophysiology
2022

The Many Faces of the Interatrial Septum: A Diagnostic Dilemma and Considerations for Defect Closure Device Selection.

Journal of cardiothoracic and vascular anesthesia
2022

The Gore Cardioform Atrial Septal Defect Occluder: A novel solution to the management of severe hemolysis following transcatheter septal defect closure.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2022

Long-standing hypoxaemia in complex adult congenital heart disease: anatomical and functional interplay in an uncommon presentation.

BMJ case reports
2022

Misdiagnosis of unroofed coronary sinus syndrome as an ostium primum atrial septal defect by echocardiography: A case report.

World journal of clinical cases
2022

Transient high-grade second-degree atrioventricular block secondary to transvenous atrial septal defect occlusion in a dog.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2022

[Efficacy of fenestrated atrial septal defect occulders on pulmonary hypertension dogs].

Zhonghua xin xue guan bing za zhi
2022

Sinus venosus defect of the pulmonary vein-type: An easily missed diagnosis.

Echocardiography (Mount Kisco, N.Y.)
2022

The presence of a large patent foramen ovale reduces acute and chronic success in atrial fibrillation ablation.

Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing
2022

Simultaneous Percutaneous Interventional Treatment of Atrial Septal Defects and Pulmonary Valve Stenosis in Children Under the Guidance of Transoesophageal Echocardiography Alone: Preliminary Experiences.

Frontiers in cardiovascular medicine
2022

Simultaneously Occurring Ischemic Stroke, Leg Artery Occlusion, and Pulmonary Embolism Induced by a Uterine Myoma.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
2021

Cryoballoon Atrial Fibrillation Ablation in a Patient with an Atrial Septal Defect Closure Device.

The journal of Tehran Heart Center
2022

Intracardiac Repair in Late Adolescent and Adult Tetralogy of Fallot - Early and Midterm Results from a Tertiary Care Centre.

Brazilian journal of cardiovascular surgery
2021

Combined transcatheter treatment of severe mitral regurgitation and secundum atrial septal defect in an inoperable patient: a case report.

European heart journal. Case reports
2021

Cardiac CT and Transesophageal Echocardiogram Evaluation of a Sinus Venosus-Type Atrial Septal Defect With Partial Anomalous Pulmonary Venous Return and a Persistent Left Superior Vena Cava.

Cureus
2022

From cold-blooded reptiles to embryological remnants: Persistent myocardial sinusoids.

Radiology case reports
2022

Association of atrial septal defect and Brugada syndrome in a young woman.

Cardiology in the young
2022

No effect of patent foramen ovale on acute mountain sickness and pulmonary pressure in normobaric hypoxia.

Experimental physiology
2022

Atrial myopathy: A primary substrate for atrial fibrillation.

Heart rhythm
2022

Deep learning-based computer-aided heart sound analysis in children with left-to-right shunt congenital heart disease.

International journal of cardiology
2022

Familial atrial myopathy in a large multigenerational heart-hand syndrome pedigree carrying an LMNA missense variant in rod 2B domain (p.R335W).

Heart rhythm
2022

Left atrial septal pouch in a six-year-old child: echocardiographic and magnetic resonance view.

Cardiology in the young
2022

Atrial fibrillation after closure of patent foramen ovale in the REDUCE clinical study.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2021

First Case of Tricuspid Valve Surgery in a Neurofibromatosis Type 1 Patient.

Heart views : the official journal of the Gulf Heart Association
2021

Spatiotemporal expression of long noncoding RNA Moshe modulates heart cell lineage commitment.

RNA biology
2022

Interpreting Quality Improvement When Introducing New Technology: A Collaborative Experience in ASD Device Closures.

Pediatric cardiology
2021

Superior Sinus Venosus Atrial Septal Defect with Partial Anomalous Pulmonary Venous Drainage-Minimally Invasive Approach-Case Report.

Medicina (Kaunas, Lithuania)
2021

Hemianomalous pulmonary venous drainage and type IIb coronary sinus septal defect - Utility of subxiphoid and right parasternal views.

Echocardiography (Mount Kisco, N.Y.)

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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. ROBO2 Variants Associated With Atrial Septal Defect Define a Novel Regulatory Element.
    Circulation. Genomic and precision medicine· 2026· PMID 41693552mais citado
  2. Feasibility of atrial septal defect type II occluders determined by computed tomography virtual cardioscope.
    Frontiers in radiology· 2026· PMID 41797981mais citado
  3. Late Diagnosis of Unroofed Coronary Sinus Associated with Persistent Left Superior Vena Cava in Patient with Repaired Tetralogy of Fallot: Case Report.
    Life (Basel, Switzerland)· 2026· PMID 41752977mais citado
  4. Percutaneous closure of an ultra-long-tunnel-type patent foramen ovale: a rare case with multimodal imaging guidance.
    BMC cardiovascular disorders· 2026· PMID 41634570mais citado
  5. Outcome in Patients with Secundum Type Atrial Septal Defect Referred for Percutaneous or Surgical Closure: A Single-Center Experience.
    The Thoracic and cardiovascular surgeon· 2026· PMID 41554508mais citado
  6. Raghib Syndrome and Pulmonary Arterial Hypertension in a Pediatric Patient: Case Report and Literature Review.
    J Clin Med· 2024· PMID 38930151recente
  7. Infant Barlow's Disease in Association with Atrial Septal Defect.
    Braz J Cardiovasc Surg· 2024· PMID 38748990recente
  8. Congenital heart defects in the recurrent 2q13 deletion syndrome.
    Eur J Med Genet· 2022· PMID 34763108recente
  9. Congenital heart defects in molecularly proven Kabuki syndrome patients.
    Am J Med Genet A· 2017· PMID 28884922recente
  10. Mitral valve repair for double-orifice mitral valve.
    Heart Lung Circ· 2014· PMID 25194958recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:99106(Orphanet)
  2. MONDO:0020437(MONDO)
  3. GARD:10695(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55789370(Wikidata)

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

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Defeito do septo atrial, tipo ostium primum
Compêndio · Raras BR

Defeito do septo atrial, tipo ostium primum

ORPHA:99106 · MONDO:0020437
CID-10
Q21.2 · Comunicação atrioventricular
Início
Antenatal, Infancy, Neonatal
MedGen
UMLS
C0741296
Wikidata
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