Introdução
O que você precisa saber de cara
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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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
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Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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🇧🇷 Atendimento SUS — Síndrome de agenesia da valva pulmonar-Tetralogia de Fallot-ausência de canal arterial
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Publicações mais relevantes
A Rare Case of Posterior Malalignment VSD with Interrupted Right Arch and Isolated Left Common Carotid Artery.
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.
Association of coarctation of aorta with Turner syndrome: a case report.
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.
Population developmental hazard of over-the-counter NSAIDs.
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.
Risk Factors for low Cardiac Output Syndrome in Children less than 6 years old Undergoing Ventricular Septal Defect Closure: a Retrospective Cohort Study.
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.
Surgical Management of a Patient With Non-Fallot-Type Absent Pulmonary Valve Syndrome.
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
Absent ductus arteriosus in Tetralogy of Fallot: early outcomes from a matched fetal cohort study.
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.
Multimodality Imaging of Bilateral Ductus Arteriosus in a Patient With Complex Heterotaxy and a Univentricular Heart.
Fetal Characteristics and Perinatal Outcomes in Tetralogy of Fallot Without a Ductus Arteriosus.
Premature Closure of the Ductus Arteriosus and Veno-Arterial Extracorporeal Membrane Oxygenation in Critically Ill Neonates: A 10-Year Single-Center Retrospective Study.
📚 EuropePMCmostrando 70
Population developmental hazard of over-the-counter NSAIDs.
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Frontiers in pediatricsA Rare Case of Posterior Malalignment VSD with Interrupted Right Arch and Isolated Left Common Carotid Artery.
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World journal for pediatric & congenital heart surgery[Two Surgical Cases of Loeys-Dietz Syndrome in Childhood].
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Texas Heart Institute journalAssociações
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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.
- A Rare Case of Posterior Malalignment VSD with Interrupted Right Arch and Isolated Left Common Carotid Artery.
- Association of coarctation of aorta with Turner syndrome: a case report.
- Population developmental hazard of over-the-counter NSAIDs.
- Risk Factors for low Cardiac Output Syndrome in Children less than 6 years old Undergoing Ventricular Septal Defect Closure: a Retrospective Cohort Study.
- Surgical Management of a Patient With Non-Fallot-Type Absent Pulmonary Valve Syndrome.
- Absent ductus arteriosus in Tetralogy of Fallot: early outcomes from a matched fetal cohort study.
- 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.
- Multimodality Imaging of Bilateral Ductus Arteriosus in a Patient With Complex Heterotaxy and a Univentricular Heart.
- Fetal Characteristics and Perinatal Outcomes in Tetralogy of Fallot Without a Ductus Arteriosus.
- Premature Closure of the Ductus Arteriosus and Veno-Arterial Extracorporeal Membrane Oxygenation in Critically Ill Neonates: A 10-Year Single-Center Retrospective Study.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:101206(Orphanet)
- MONDO:0015103(MONDO)
- GARD:19780(GARD (NIH))
- Busca completa no PubMed(PubMed)
- 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
