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Síndrome de agenesia da valva pulmonar-Tetralogia de Fallot-ausência de canal arterial
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Introdução

O que você precisa saber de cara

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Síndrome da valva pulmonar ausente (SAPV) é uma cardiopatia congênita que ocorre quando os folhetos da valva pulmonar não se desenvolvem ou são gravemente subdesenvolvidos (hipoplasia), resultando em aneurismas (dilatação) das artérias pulmonares e amolecimento da traqueia e dos brônquios (traqueobroncomalácia). Geralmente, a SAPV ocorre em conjunto com outras cardiopatias congênitas, sendo as mais comuns a comunicação interventricular e a obstrução da via de saída do ventrículo direito. É por vezes considerada uma variante da Tetralogia de Fallot. O primeiro caso de síndrome da valva pulmonar ausente foi relatado por Crampton em 1830.

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SUS: Cobertura mínimaScore: 15%
CID-10: Q22.2
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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
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Anos de pesquisa12
Últimos 10 anos70publicações
Pico202413 papers
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20202014Hoje · 2026📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

A Rare Case of Posterior Malalignment VSD with Interrupted Right Arch and Isolated Left Common Carotid Artery.

Pediatric cardiology2026 Apr

We present a rare and yet unreported constellation of cardiovascular anomalies in a girl with DiGeorge Syndrome (DGS) and congenital athymia due to 22q11.2 deletion and describe her clinical course leading to corrective surgery. Cardiac findings included a large posterior malalignment ventricular septal defect (VSD), a severely hypoplastic aortic valve, and a proximal ascending aorta that continued as the right common carotid artery (RCCA). The aortic arch was right-sided and interrupted. From the main pulmonary artery (MPA), a right-sided patent ductus arteriosus (right PDA) continued as a right-sided descending aorta, which gave rise to the right subclavian artery (RSCA) and an aberrant left subclavian artery (LSCA). A left-sided PDA continued as the isolated left common carotid artery (LCCA). Only 18 cases of Isolated LCCA have been previously reported, none of which were associated with an interrupted right aortic arch. In this case, palliative cardiac catheterization was followed by corrective cardiac surgery and later successful thymic transplantation.

#2

Association of coarctation of aorta with Turner syndrome: a case report.

Frontiers in pediatrics2025

Monosomy 45,X is commonly associated with congenital heart defects, particularly coarctation of the aorta (CoA). In this case, the patient developed respiratory distress due to hemodynamic instability from a large bidirectional patent ductus arteriosus (PDA) shunt and systemic hypoperfusion secondary to CoA, which complicated diagnosis and management. We report a 34-week premature female neonate weighing 1.94 kg, delivered via lower segment cesarean section (LSCS) due to oligohydramnios and intrauterine growth restriction. She exhibited characteristic features of Turner syndrome, including a webbed neck, low-set ears, widely spaced nipples, and lymphedema of the hands and feet. Karyotyping confirmed a 45,X monosomy. Echocardiography revealed a bicuspid aortic valve, juxtaductal coarctation of the aorta, a moderate-sized PDA with a bidirectional shunt, and suspected pulmonary hypertension. A contrast-enhanced CT aortogram confirmed the coarctation. The patient was managed with mechanical ventilation, continuous positive airway pressure (CPAP), surfactant therapy, and phototherapy. Rescue transcatheter balloon angioplasty was performed for the coarctation, followed by PDA ligation and surgical coarctation repair at a tertiary center, resulting in marked clinical improvement.

#3

Population developmental hazard of over-the-counter NSAIDs.

Folia medica Cracoviensia2025 Dec 31

Over-the-counter (OTC) nonsteroidal anti-inflammatory drugs (NSAIDs, i.e., aspirin, diclofenac, dipyrone, ibuprofen, naproxen) and paracetamol are commonly ingested medications during pregnancy that for a long time were classified as relatively safe for mothers and fetuses. The review focuses on developmental toxicity of OTC NSAIDs. Same epidemiological studies show that OTC antipyretics and painkillers may increase risk of spontaneous abortion, intrauterine growth retardation, preterm constriction of ductus arteriosus with secondary persistent pulmonary hypertension, reduced fetal renal perfusion that leads to oligohydramion, prolonged pregnancy, as well as selected congenital anomalies, including orofacial cleft, cardiovascular (i.e. ventricular septal defect, pulmonary valve stenosis) and neural tube defects (i.e., anophthalmia/microphthalmia, encephalocele, spina bifida), amniotic bands/limb body wall defects, and transverse limb deficiencies. However, other reports prove high prenatal tolerability or even beneficial effect in case of selected maternal sicknesses, especially influenza or disease with fever and thrombotic complications. The best advice for pregnant women is to avoid any xenobiotic, especially multidrug therapy, but in case OTC NSAIDs are needed they should be ingested in lowest effective dose under physician consultation. After gestational week 20, NSAIDs could be ingested with caution and withdrawn at gestational week 32, since they may induce constriction of the ductus arteriosus and affect renal function. The only exception is low-dose of aspirin, ingestion of which should be stopped one week before delivery with epidural anesthesia or could be prolonged until the end of pregnancy in patients with antiphospholipid syndrome.

#4

Risk Factors for low Cardiac Output Syndrome in Children less than 6 years old Undergoing Ventricular Septal Defect Closure: a Retrospective Cohort Study.

Pediatric cardiology2025 Sep 30

Low cardiac output syndrome (LCOS) is a critical complication following ventricular septal defect (VSD) closure in children. Despite its clinical importance, the risk factors specific to LCOS in VSD cases are underexplored. This study investigated the risk factors and clinical outcomes associated with LCOS in children aged < 6 years who underwent VSD closure.We conducted a retrospective cohort study and analyzed 266 patients who underwent VSD closure between January 2014 and December 2023. Patients with other complex congenital heart anomalies requiring surgical repair, except for atrial septal defects, patent ductus arteriosus, mild valve stenosis, or regurgitation, were excluded. LCOS was diagnosed based on hemodynamic and metabolic criteria. The LCOS observation window included both the intraoperative and early postoperative phases. Univariate and multivariate logistic regression analyses were performed to identify risk factors for LCOS. Among the 266 patients, 46 (17.3%) developed LCOS. Independent risk factors for LCOS included age < 3 months (adjusted odds ratio [aOR]: 4.72, 95% confidence interval [CI]: 2.20-10.2, p < 0.001), preoperative pulmonary hypertension (defined using echocardiography as the qualitative presence of interventricular septal flattening) (aOR: 2.17, 95% CI: 1.03-4.58, p < 0.05), and cardiopulmonary bypass duration > 120 min (aOR, 2.92; 95% CI: 1.41-6.07, p < 0.01). LCOS was associated with prolonged mechanical ventilation, intensive care unit stay, and hospital stay but did not significantly affect mortality. This study identified risk factors for LCOS that contribute to safe intraoperative and postoperative management in pediatric patients undergoing VSD closure.

#5

Surgical Management of a Patient With Non-Fallot-Type Absent Pulmonary Valve Syndrome.

World journal for pediatric &amp; congenital heart surgery2025 Sep

We describe the presentation and management of an infant with the unique constellation of a massive patent ductus arteriosus, severely insufficient pulmonary valve, hypoplastic tricuspid valve, and a resultant profoundly dilated and hypertrophic right ventricle with intact interventricular septum. Surgery consisted of ductal ligation and division, homograft patch augmentation of the aortic arch, modified Blalock-Taussig-Thomas shunt placement, right ventricle-to-pulmonary artery homograft placement, and atrial septectomy.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 70

2025

Population developmental hazard of over-the-counter NSAIDs.

Folia medica Cracoviensia
2025

Risk Factors for low Cardiac Output Syndrome in Children less than 6 years old Undergoing Ventricular Septal Defect Closure: a Retrospective Cohort Study.

Pediatric cardiology
2025

Association of coarctation of aorta with Turner syndrome: a case report.

Frontiers in pediatrics
2026

A Rare Case of Posterior Malalignment VSD with Interrupted Right Arch and Isolated Left Common Carotid Artery.

Pediatric cardiology
2024

Interventional Management of a Rare Case of Complex Congenital Heart Disease in an Adult Patient: A Case Report.

The journal of Tehran Heart Center
2025

Surgical Management of a Patient With Non-Fallot-Type Absent Pulmonary Valve Syndrome.

World journal for pediatric &amp; congenital heart surgery
2025

A Cardiocraniofacial Syndrome Associated With a Novel Missense Variant in GATA6: A Fetal Case Report.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2025

Multimodality Imaging of Bilateral Ductus Arteriosus in a Patient With Complex Heterotaxy and a Univentricular Heart.

Echocardiography (Mount Kisco, N.Y.)
2024

Isolated absent pulmonary valve with intact ventricular septum in a young child: A rare case report.

Annals of pediatric cardiology
2024

Surgical treatment experience of seven cases of Berry syndrome.

Journal of cardiothoracic surgery
2024

A Case of Antenatal Diagnosis of Absent Pulmonary Valve Syndrome with Intact Ventricular Septum, Large Patent Ductus Arteriosus, and Ascending Aorta Dilatation.

The journal of Tehran Heart Center
2024

Special considerations for the stabilization and resuscitation of patients with cardiac disease in the Neonatal Intensive Care Unit.

Seminars in perinatology
2024

Severe pulmonary insufficiency caused by Fallot-type absent pulmonary valve syndrome: A rare reason for neonatal central cyanosis.

International journal of surgery case reports
2024

Hybrid palliation to promote growth of left ventricle and left ventricular outflow tract.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2024

Outcomes of Neonates Born with Symptomatic Tetralogy of Fallot and Absent Ductus Arteriosus.

The Journal of pediatrics
2024

Cardiovascular Disease and Inpatient Complications in Turner Syndrome: A Propensity Score Analysis.

Texas Heart Institute journal
2024

The American Association for Thoracic Surgery (AATS) 2024 expert consensus document: Management of neonates and infants with Ebstein anomaly.

The Journal of thoracic and cardiovascular surgery
2024

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.

Diagnostics (Basel, Switzerland)
2024

Double aneuploidy in a 2-month-old male with Edward syndrome and Klinefelter syndrome: a case report.

Annals of medicine and surgery (2012)
2024

Utility of Konar-Multifunctional Occluder in Complex Situations: Unconventional Uses in Rare Situations.

Pediatric cardiology
2022

Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies.

Genes
2022

Prenatal Diagnosis, Associations and Outcome for Fetuses with Congenital Absence of the Pulmonary Valve Syndrome.

Anatolian journal of cardiology
2022

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

Medicine
2022

A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report.

BMC pediatrics
2022

Anesthetic management of a child with Cornelia de Lange Syndrome undergoing open heart surgery: A case report.

World journal of cardiology
2021

Stridor as a Harbinger of Congenital Cardiovascular Anomaly.

Acta Cardiologica Sinica
2021

[Congenital heart disease associated with the most prevalent chromosomal syndromes: a literature review].

Archivos peruanos de cardiologia y cirugia cardiovascular
2022

Absent pulmonary valve with tricuspid atresia/stenosis: literature review with new three long-term cases.

Heart and vessels
2022

Effectiveness of oral sildenafil for neonates with persistent pulmonary hypertension of newborn (PPHN): a prospective study in a tertiary care hospital.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2021

Prenatal diagnosis and postnatal course in four fetuses with very rare pulmonary artery anomalies.

Turkish journal of obstetrics and gynecology
2021

Left heart growth and biventricular repair after hybrid palliation.

Interactive cardiovascular and thoracic surgery
2021

Absent pulmonary valve syndrome with tetralogy of fallot and patent ductus arteriosus at 14 weeks of gestation and follow-up 2 weeks later: Case report and review of literature.

Echocardiography (Mount Kisco, N.Y.)
2021

Fallot-type absent pulmonary valve syndrome with patent ductus arteriosus and disconnected pulmonary arteries.

Cardiology in the young
2020

Half-turned truncal switch operation after single ventricle palliation in a patient with borderline left heart hypoplasia.

Journal of cardiothoracic surgery
2020

SPECIAL ISSUE: "FOCUS ON PEDIATRIC CARDIOLOGY".

Journal of biological regulators and homeostatic agents
2020

Fetal diagnosis of isolated absent pulmonary valve with intact interventricular septum: How to counsel the parents?

Annals of pediatric cardiology
2020

[Application of arterial duct stent in ductus-dependent hypoplastic right heart syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2020

Surgical Repair of Peripheral Pulmonary Artery Stenosis in Patients Without Williams or Alagille Syndromes.

Seminars in thoracic and cardiovascular surgery
2020

Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2019

Characteristics of Patent Ductus Arteriosus in Congenital Rubella Syndrome.

Scientific reports
2019

Anomalous Origin of the Right Coronary Artery from the Pulmonary Artery in a Neonate with Turner Syndrome and Aortic Arch Hypoplasia.

Texas Heart Institute journal
2019

Incidentally detected small fistula flows in pulmonary artery by colour Doppler: echocardiographic findings and follow-up results.

Cardiology in the young
2019

The Impact of Technology on the Diagnosis of Congenital Malformations.

American journal of epidemiology
2019

IMPACT Registry and National Pediatric Cardiology Quality Improvement Collaborative: Contributions to Quality in Congenital Heart Disease.

World journal for pediatric &amp; congenital heart surgery
2019

Absent Pulmonary Valve Syndrome in a Fetus: A Case Report and Literature Review.

Fetal and pediatric pathology
2019

'Absent' pulmonary valve with intact ventricular septum mimicking tricuspid valve atresia: Prenatal diagnosis and postnatal course.

The journal of obstetrics and gynaecology research
2019

Anesthesia for high-risk procedures in the catheterization laboratory.

Paediatric anaesthesia
2018

[Short and midterm results of surgical treatment of interrupted aortic arch].

Zhonghua wai ke za zhi [Chinese journal of surgery]
2020

Outcome and Associated Findings in Individuals with Pre- and Postnatal Diagnosis of Tetralogy of Fallot (TOF) and Prediction of Early Postnatal Intervention.

Ultraschall in der Medizin (Stuttgart, Germany : 1980)
2018

[Method selection and perioperative management of termination of pregnancy during the first and second trimester of pregnancy with severe cardiovascular disease].

Zhonghua fu chan ke za zhi
2020

Tetralogy of Fallot With Absent Pulmonary Valve and Nonconfluent Pulmonary Arteries: A Management Conundrum.

World journal for pediatric &amp; congenital heart surgery
2018

Prenatal physiologic findings and postnatal advanced imaging in the management of absent pulmonary valve syndrome with intact ventricular septum.

Echocardiography (Mount Kisco, N.Y.)
2017

Atypical Circular Shunt and Diffuse Emphysema in a Fetus with Double-Outlet Right Ventricle and Absent Pulmonary Valve.

CASE (Philadelphia, Pa.)
2018

Hybrid strategies for high-risk non-hypoplastic left heart syndrome patients.

Journal of cardiac surgery
2019

The Norwood Procedure With Valvular Pulmonary Stenosis.

The Annals of thoracic surgery
2017

Prenatal ultrasonic diagnosis of absent pulmonary valve syndrome: A case report.

Medicine
2017

Experience in the corrective treatment of patients with atrioventricular septum.

Gaceta medica de Mexico
2017

Operable patent ductus arteriosus even with differential cyanosis: a case of patent ductus arteriosus and mitral stenosis.

Cardiology in the young
2017

Absent pulmonary valve syndrome - diagnosis, associations, and outcome in 71 prenatally diagnosed cases.

Prenatal diagnosis
2017

Evolution of hybrid interventions for congenital heart disease.

Expert review of cardiovascular therapy
2016

Percutaneous closure of isolated ostium secundum-type atrial septal defect in a patient with Mayer-Rokitansky-Küster-Hauser syndrome.

Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology
2017

Patent Ductus Arteriosus Banding for Circular Shunting After Pulmonary Valvuloplasty.

World journal for pediatric &amp; congenital heart surgery
2016

[Two Surgical Cases of Loeys-Dietz Syndrome in Childhood].

Kyobu geka. The Japanese journal of thoracic surgery
2016

Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome.

Congenital heart disease
2017

Prenatal diagnosis of absent pulmonary valve syndrome from first trimester onwards: novel insights into pathophysiology, associated conditions and outcome.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2015

Potential Molecular Mechanism of Retrograde Aortic Arch Stenosis in the Hybrid Approach to Hypoplastic Left Heart Syndrome.

The Annals of thoracic surgery
2015

Perioperative management of a patient with Dandy Walker malformation with tetralogy of Fallot undergoing total correction and fresh homologous pericardial pulmonary valve conduit implantation: Report of a rare case.

Annals of cardiac anaesthesia
2015

Intermediate Results of Hybrid Versus Primary Norwood Operation.

The Annals of thoracic surgery
2015

The value of transthoracic echocardiography in the diagnosis of anomalous origin of the right pulmonary artery from the ascending aorta: A single center experience from China.

International journal of cardiology
2014

Importance of absent ductus arteriosus in tetralogy of Fallot with absent pulmonary valve syndrome.

Texas Heart Institute journal

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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. A Rare Case of Posterior Malalignment VSD with Interrupted Right Arch and Isolated Left Common Carotid Artery.
    Pediatric cardiology· 2026· PMID 40750689mais citado
  2. Association of coarctation of aorta with Turner syndrome: a case report.
    Frontiers in pediatrics· 2025· PMID 40909432mais citado
  3. Population developmental hazard of over-the-counter NSAIDs.
    Folia medica Cracoviensia· 2025· PMID 41607171mais citado
  4. Risk Factors for low Cardiac Output Syndrome in Children less than 6&#xa0;years old Undergoing Ventricular Septal Defect Closure: a Retrospective Cohort Study.
    Pediatric cardiology· 2025· PMID 41028365mais citado
  5. Surgical Management of a Patient With Non-Fallot-Type Absent Pulmonary Valve Syndrome.
    World journal for pediatric &amp; congenital heart surgery· 2025· PMID 40233133mais citado
  6. Absent ductus arteriosus in Tetralogy of Fallot: early outcomes from a matched fetal cohort study.
    Cardiol Young· 2025· PMID 41530904recente
  7. Study on the Correlation Between Ventricular Function Evaluated by Z-Score of Atrioventricular Annular Plane Systolic Excursion and Pulmonary Artery Abnormality and Retrograde Ductus Arteriosus Flow in Fetuses With Ebstein Anomaly.
    J Clin Ultrasound· 2026· PMID 41189319recente
  8. Multimodality Imaging of Bilateral Ductus Arteriosus in a Patient With Complex Heterotaxy and a Univentricular Heart.
    Echocardiography· 2025· PMID 39912617recente
  9. Fetal Characteristics and Perinatal Outcomes in Tetralogy of Fallot Without a Ductus Arteriosus.
    Pediatr Cardiol· 2026· PMID 39738673recente
  10. Premature Closure of the Ductus Arteriosus and Veno-Arterial Extracorporeal Membrane Oxygenation in Critically Ill Neonates: A 10-Year Single-Center Retrospective Study.
    Pediatr Cardiol· 2025· PMID 39073480recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:101206(Orphanet)
  2. MONDO:0015103(MONDO)
  3. GARD:19780(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55785252(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

Síndrome de agenesia da valva pulmonar-Tetralogia de Fallot-ausência de canal arterial
Compêndio · Raras BR

Síndrome de agenesia da valva pulmonar-Tetralogia de Fallot-ausência de canal arterial

ORPHA:101206 · MONDO:0015103
CID-10
Q22.2 · Insuficiência congênita da valva pulmonar
CID-11
Início
Antenatal, Neonatal
MedGen
UMLS
C4707896
Wikidata
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