Raras
Buscar doenças, sintomas, genes...
Persistência do canal arterial familiar
ORPHA:466729CID-10 · Q25.0CID-11 · LA8B.4DOENÇA RARA

Um enfarte agudo do miocárdio (português europeu) ou infarto agudo do miocárdio (português brasileiro), vulgarmente denominado ataque cardíaco, ocorre quando a circulação de sangue para uma parte do coração é interrompida, causando lesões no músculo cardíaco. O sintoma mais comum em homens é dor no peito ou desconforto que se pode espalhar para o ombro, costas, pescoço ou maxilar. É comum ter início no lado esquerdo do peito e durar alguns minutos. O desconforto pode por vezes ser semelhante à azia. Entre outros sintomas possíveis estão a falta de ar, náuseas, sensação de desmaio, suores frios ou fadiga. Cerca de 30% das pessoas manifestam sintomas atípicos, os quais são mais comuns entre mulheres.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Doença cardíaca congênita hereditária caracterizada pela persistência do canal arterial, associada a mutações nos genes PRDM6 e TFAP2B. Pode ocorrer isoladamente ou em associação com outras anomalias.

🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q25.0
🇧🇷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

🦴
Ossos e articulações
8 sintomas
😀
Face
8 sintomas
👁️
Olhos
5 sintomas
👂
Ouvidos
3 sintomas
🦷
Dentes
2 sintomas
🧠
Neurológico
2 sintomas

+ 7 sintomas em outras categorias

Características mais comuns

Clinodactilia do quinto dedo
Polidactilia mesoaxial do pé
Persistência de dentes decíduos
Sinfalangismo do 5º dedo
Mamilo supranumerário
Anormalidade do sono
37sintomas
Sem dados (37)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 37 características clínicas mais associadas, ordenadas por frequência.

Clinodactilia do quinto dedoClinodactyly of the 5th finger
Polidactilia mesoaxial do péMesoaxial foot polydactyly
Persistência de dentes decíduosPersistence of primary teeth
Sinfalangismo do 5º dedoSymphalangism of the 5th finger
Mamilo supranumerárioSupernumerary nipple

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico202429 papers
Linha do tempo
2026Hoje · 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

2 genes identificados com associação a esta condição.

Autosomal dominant
PRDM6Putative histone-lysine N-methyltransferase PRDM6Disease-causing germline mutation(s) (loss of function) inRestrito
FUNÇÃO

Putative histone methyltransferase that acts as a transcriptional repressor of smooth muscle gene expression. Promotes the transition from differentiated to proliferative smooth muscle by suppressing differentiation and maintaining the proliferative potential of vascular smooth muscle cells. Also plays a role in endothelial cells by inhibiting endothelial cell proliferation, survival and differentiation. It is unclear whether it has histone methyltransferase activity in vivo. According to some a

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

Patent ductus arteriosus 3

A congenital heart defect characterized by the persistent opening of fetal ductus arteriosus that fails to close after birth. Fetal ductus arteriosus connects the pulmonary artery to the descending aorta, allowing unoxygenated blood to bypass the lung and flow to the placenta. Normally, the ductus occludes shortly after birth.

EXPRESSÃO TECIDUAL(Tecido-específico)
Aorta
35.5 TPM
Bladder
18.6 TPM
Artéria tibial
15.6 TPM
Artéria coronária
12.9 TPM
Cólon sigmoide
10.3 TPM
INTERAÇÕES PROTEICAS (2)
OUTRAS DOENÇAS (2)
patent ductus arteriosus 3patent ductus arteriosus
HGNC:9350UniProt:Q9NQX0
TFAP2BTranscription factor AP-2-betaDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-beta appears to be required for normal face and li

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (5)
Activation of the TFAP2 (AP-2) family of transcription factorsNegative regulation of activity of TFAP2 (AP-2) family transcription factorsTFAP2 (AP-2) family regulates transcription of growth factors and their receptorsSUMOylation of transcription factorsSpecification of the neural plate border
MECANISMO DE DOENÇA

Char syndrome

An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

EXPRESSÃO TECIDUAL(Tecido-específico)
Rim - Medula
17.4 TPM
Mama
7.7 TPM
Cerebelo
6.8 TPM
Skin Sun Exposed Lower leg
6.6 TPM
Skin Not Sun Exposed Suprapubic
6.5 TPM
OUTRAS DOENÇAS (3)
Char syndromepatent ductus arteriosus 2patent ductus arteriosus
HGNC:11743UniProt:Q92481

Variantes genéticas (ClinVar)

88 variantes patogênicas registradas no ClinVar.

🧬 TFAP2B: NM_003221.4(TFAP2B):c.565G>A (p.Gly189Ser) ()
🧬 TFAP2B: NM_003221.4(TFAP2B):c.767G>A (p.Arg256Gln) ()
🧬 TFAP2B: NM_003221.4(TFAP2B):c.81+304C>A ()
🧬 TFAP2B: NM_003221.4(TFAP2B):c.1238C>G (p.Ala413Gly) ()
🧬 TFAP2B: NM_003221.4(TFAP2B):c.469G>A (p.Gly157Ser) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1 variantes classificadas pelo ClinVar.

1
VUS (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
PRDM6: NM_001136239.4(PRDM6):c.166CCCCCG[3] (p.Pro59_Glu60insProPro) [Uncertain significance]

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 — Persistência do canal arterial familiar

🗺️

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

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Birth weight, ototoxic medication, and surgical history predict individual hearing loss risks: a systematic review and meta-analysis.

Frontiers in pediatrics2026

Hearing loss (HL) impairs sound perception and includes sensorineural, conductive, and mixed subtypes. Compared with healthy newborns, infants admitted to the neonatal intensive care unit (NICU) are at substantially increased risk of congenital anomalies and exposure to HL-related risk factors. However, the specific determinants of neonatal HL remain controversial. This systematic review and meta-analysis seeks to identify risk factors linked to HL in neonates admitted to the NICU. PubMed, the Cochrane Library, Embase, and Web of Science were systematically searched from March 26, 1996, to February 25, 2025. Eligible studies were English-language retrospective studies employing multivariate logistic regression to evaluate potential risk factors for HL in NICU neonates. Meta-analyses were conducted using STATA, and pooled estimates were reported as odds ratios or relative risks (OR/RR) with 95% confidence intervals (CI). This study included 21 retrospective studies with a total of 21,143 participants. Meta-analysis indicated that very low birth weight (<1,500 g), exposure to ototoxic drugs (aminoglycosides, loop diuretics), history of the surgical ligation of patent ductus arteriosus (PDA), craniofacial anomalies, family history of HL, and TORCH infections were significantly associated with HL in NICU neonates (all P ≤ 0.05). In contrast, low Apgar score, prematurity, low birth weight (1,500-2,500 g), duration of vancomycin exposure, sex, and sepsis were not significantly correlated. The findings were robust, and no evident publication bias was detected. Statistically significant risk factors for HL included craniofacial anomalies, family history of HL, TORCH infections, and surgical ligation of PDA, as well as hyperbilirubinemia, exposure to loop diuretics and other ototoxic drugs, mechanical ventilation, and very low birth weight (<1,500 g) (all P ≤ 0.05). In contrast, low Apgar score, preterm birth, and sepsis were not significantly linked to HL. https://www.crd.york.ac.uk/PROSPERO/search, PROSPERO CRD420250653476.

#2

Trends in Survival and Short-Term Outcomes Among Preterm Infants Less Than 32 Weeks From 2016 to 2022: A Retrospective Cohort Study at a Tertiary Medical Center in the UAE.

Cureus2026 Feb

Introduction Contemporary data on preterm infant outcomes are vital for improving healthcare resources and results, as well as guiding professionals and families in counselling and decision-making. Objective To examine the survival rates, in-hospital complications, and antenatal care practices for infants born before 32 weeks of gestational age. Methods Demographics and outcome data were retrospectively gathered, adhering to standard definitions, for a cohort of infants born before 32 weeks of gestational age admitted between January 2016 and December 2022 at Tawam Hospital, UAE. Results Of the 700 infants with gestational ages 22+0 to 31+6, over the seven years, 553 (79%) survived to discharge. Overall, the median (IQR) length of stay in survivors was 67 (42, 95) days. Bronchopulmonary dysplasia (BPD) (any grade) was 228 (40.5%), and 89 (12.9%) preterm infants had necrotizing enterocolitis (NEC) stage 2 and above. Late-onset sepsis was seen in 195 (30.1%) cases. Regarding neurological injury, intraventricular hemorrhage (IVH) grade 3 and above was recorded in 57 (9.2%) cases, and periventricular leukomalacia (PVL) was noted in 37 (8.4%) infants. Patent ductus arteriosus (PDA) treatment was given to 115 (16.7%), and retinopathy of prematurity (ROP) treatment was needed in 8.5% of preterm infants. The study was divided into two periods: period 1 (2016-2019) and period 2 (2020-2022). Mortality was 92 (23.8%) in period 1 vs. 55 (17.6%) in period 2. Morbidities between period 1 vs. period 2 were as follows: BPD 101 (33.8%) vs. 127 (48.1%) (p < 0.0001), PVL 13 (5.7%) vs. 24 (11.2%) (p < 0.038), and sepsis 90 (25.5%) vs. 105 (35.6%) (p = 0.005). Rates of ROP needing treatment and NEC≥2, 18 (7.1%) vs. 23 (10%) and 45 (11.8%) vs. 44 (14.3%), respectively, p=0.239 and p=0.327, respectively, and severe IVH 34 (10%) vs. 23 (8%) (p=0.357). Conclusion A significant increase in survival in less than 32 weeks was noted over the study period. Increase in survival was associated with a notable rise in BPD, PVL, and sepsis. Rates of ROP needing treatment and NEC ≥ 2 increased, but the rise didn't reach statistical significance. On the other hand, a non-statistically significant reduction in severe IVH cases was observed.

#3

Development of 3D-Printed Congenital Heart Disease Models Using Feasible Low-Cost Workflow - A Potential Tool to Improve Pediatric Cardiology Education.

Arquivos brasileiros de cardiologia2026 Jan

Congenital heart diseases (CHD) require an in-depth anatomopathological understanding. 3D printing is a promising educational tool for creating physical prototypes from imaging data, but costs are a major issue. This study aimed to describe a feasible low-cost workflow for the development of 3D-printed (3DP) CHD models and create a shareable educational set. Data from cardiac tomography images were used, following the steps of image acquisition, segmentation, digital design, slicing, 3D printing, and post-printing. Valvar structures were created from echocardiographic data using the cartographic heightmap technique and inserted into prototypes. 3DP models were evaluated by an expert team, enhanced, and applied to medical residents during an educational session. Free software, a desktop 3D printer, and low-cost materials were used. Twelve 3DP models were developed, including ventricular septal defect with patent ductus arteriosus, atrial septal defect, Tetralogy of Fallot, transposition of the great arteries, atrioventricular septal defect, coarctation of the Aorta, hypoplastic left heart syndrome, tricuspid atresia, pulmonary atresia, total anomalous pulmonary venous connection, Truncus arteriosus, and interrupted aortic arch. All residents (100%) agreed that prototypes were "faithful to the anatomy", "visually appealing", "motivated the study", and "allowed better spatial conceptualization". They related 3DP CHD models "are an important pedagogical resource" and can potentially benefit the education of "undergraduate students" (100%), "interdisciplinary team" (100%), "cardiologists, surgeons and residents" (100%), and "families" (93%). Development of 3DP CHD models using a low-cost workflow is feasible. Models developed are freely available for download and printing, intending to promote education to all interested in CHD. As cardiopatias congênitas (CC) demandam profundo conhecimento anatomopatológico. A impressão 3D (Imp3D) é uma ferramenta de ensino promissora para a criação de protótipos físicos a partir de dados de imagem, mas os custos representam um grande obstáculo. Descrever um fluxo de trabalho factível e de baixo custo para o desenvolvimento de modelos de CC em Imp3D e criar um conjunto de modelos de ensino compartilháveis. Foram utilizados conjuntos de imagens de tomografia cardíaca, seguindo as etapas de aquisição, segmentação, design digital, fatiamento, Imp3D e pós-impressão. Estruturas valvares foram criadas a partir de dados ecocardiográficos utilizando a técnica cartographic heightmap e inseridas nos protótipos. Os modelos de CC em Imp3D foram avaliados por uma equipe de especialistas, aprimorados e aplicados a residentes de cardiologia e cirurgia cardíaca durante uma sessão de ensino. Foram utilizados softwares gratuitos, impressora 3D desktop e materiais de baixo custo. Doze modelos de CC em Imp3D foram desenvolvidos, incluindo Comunicação Interventricular, Persistência do Canal Arterial, Comunicação Interatrial, Tetralogia de Fallot, Transposição das Grandes Artérias, Defeito do Septo Atrioventricular, Coarctação de Aorta, Síndrome do Coração Esquerdo Hipoplásico, Atresia Tricúspide, Atresia Pulmonar, Conexão Anômala Total de Veias Pulmonares, Truncus Arteriosus e Interrupção de Arco Aórtico. Todos os residentes (100%) concordaram que os protótipos eram “fiéis à anatomia”, “visualmente atraentes”, “motivaram o estudo” e “permitiram uma melhor conceitualização espacial”. Eles relataram que os modelos em Imp3D “são um importante recurso pedagógico” e podem potencialmente beneficiar a educação de “estudantes de graduação” (100%), “equipe interdisciplinar” (100%), “cardiologistas, cirurgiões e residentes” (100%) e “famílias” (93%). O desenvolvimento de modelos de CC em Imp3D utilizando metodologia de baixo custo é factível. Os arquivos digitais dos modelos desenvolvidos estão disponíveis gratuitamente para download e impressão, com o objetivo de promover a educação de todos os interessados no estudo das CC.

#4

A Complex Case of Ornithine Transcarbamylase Deficiency in a Patient With Severe Comorbid Conditions.

Clinical case reports2026 Feb

Ornithine transcarbamylase deficiency (OTCD) is the most common urea-cycle disorder, but it is often overlooked in Pakistan. It can present after the neonatal period with symptoms resembling sepsis and significant respiratory alkalosis. We report a 4-month-old boy with fever, lethargy, poor feeding, and loose stools for 5 days. He arrived with a rapid heart rate and quick breathing. His arterial blood gas showed a pH of 7.65, pCO2 of 14 mmHg, and HCO3 - of 15.5 mmol/L. Plasma ammonia levels were elevated at 78.1 μmol/L (reference range 11-32). A quantitative amino acid test revealed greatly increased glutamate (263 μmol/L; reference range 18-98) with low citrulline (6 μmol/L; reference range 16-32) and a normal ornithine/arginine ratio, which matches the pattern seen in partial OTCD. A contrast-enhanced CT scan of the brain showed widespread leptomeningeal enhancement and mild enlargement of the bifronto-temporal subarachnoid spaces. An echocardiogram found a small secundum atrial septal defect (ASD) and a tiny patent ductus arteriosus (PDA), with normal function in both ventricles. The patient was treated for suspected sepsis and high ammonia levels using sodium benzoate, L-arginine, L-carnitine, micronutrient support, and a low-protein diet based on formula (Basic-P/Morinaga BF-1). This led to steady improvements in his clinical condition and blood work. This case highlights three key points for resource-limited settings: (i) check ammonia levels early in any infant with unexplained encephalopathy and respiratory alkalosis; (ii) a low-citrulline/normal-ornithine profile should prompt evaluation for OTCD, even with mild hyperammonemia; and (iii) starting nitrogen-scavenging therapy and adjusting dietary protein can prevent the need for dialysis. Documenting these presentations helps raise awareness in the region and emphasizes the importance of access to confirmatory molecular testing and family counseling when newborn screening is not available. Cantú syndrome is characterized by congenital hypertrichosis; distinctive coarse facial features (including broad nasal bridge, wide mouth with thick vermilion of the upper and lower lips, and macroglossia); enlarged heart with enhanced systolic function, as well as pericardial effusion and, in many, a large patent ductus arteriosus (PDA) requiring repair; and musculoskeletal abnormalities (thickening of the calvaria, broad ribs, scoliosis, flaring of the metaphyses, and low muscle tone). Other cardiovascular abnormalities may include dilated aortic root and ascending aorta with rare aortic aneurysm, tortuous vascularity involving brain and retinal vasculature, and pulmonary arteriovenous communications. Generalized edema (which may be present at birth) spontaneously resolves; peripheral edema of the lower extremities (and sometimes arms and hands) may develop at adolescence. Developmental delays are common, but intellect is typically normal; behavioral problems can include attention-deficit/hyperactivity disorder, autism spectrum disorder, obsessive-compulsive disorder, anxiety, and depression. The diagnosis of Cantú syndrome can be established in a proband with characteristic clinical and imaging findings and/or a heterozygous gain-of-function pathogenic variant in ABCC9 or KCNJ8 identified by molecular genetic testing. Treatment of manifestations: Referral to dermatologist for hypertrichosis treatment options; surgical or device closure of PDA in infancy or early childhood as needed; pericardiocentesis and pericardial stripping as needed to treat pericardial effusion; developmental and educational support; compression stockings and other standard management including lymphedema pump for peripheral edema; standard treatment for gastroesophageal reflux; individualized management for migraine headaches; management of pulmonary hypertension per cardiologist; treatment of seizures per experienced neurologist; bracing and/or surgery as needed for scoliosis. Surveillance: Annual echocardiogram and electrocardiogram to monitor cardiac size and function, as well as for evidence of pericardial effusion. Clinical evaluation and cardiac biomarkers to monitor late development of high-output cardiac failure. Monitor for a history of persistent headaches or other neurologic symptoms, which may require brain imaging for cerebral vasculature abnormality and evaluation by a neurologist. Monitor developmental progress, educational needs, and behavioral assessment at each visit. Monitor for evidence of peripheral edema annually starting in adolescence. Assess for gastroesophageal reflux disease as needed. Assess for scoliosis with physical examination, followed by spine radiographs as needed. Agents/circumstances to avoid: Minoxidil, diazoxide, and angiotensin-converting enzyme inhibitors. Evaluation of relatives at risk: Clarify the genetic/clinical status of older and younger relatives of an affected individual in order to identify as early as possible those who should be evaluated and monitored for cardiac manifestations of Cantú syndrome, as well as peripheral edema and scoliosis. Cantú syndrome is inherited in an autosomal dominant manner. Each child of an individual with Cantú syndrome has a 50% chance of inheriting a Cantú syndrome-related pathogenic variant. If the causative ABCC9 or KCNJ8 pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible. If the Cantú syndrome-causing pathogenic variant has not been identified in an affected family member, evaluation of a pregnancy at increased risk using ultrasound to look for fetal macrosomia and polyhydramnios and a fetal echocardiogram to evaluate for cardiovascular abnormalities is recommended.

#5

Treatment Strategies and Outcomes in Pulmonary Atresia With Ventricular Septal Defect Without Major Aortopulmonary Collateral Arteries in North America 2003-2023.

The Annals of thoracic surgery2026 Feb

The management of pulmonary atresia with ventricular septal defect (PA/VSD) without major aortopulmonary collateral arteries (MAPCAs) varies widely, yet multicenter outcome data are limited. This study employed a multi-institutional database to explore practice patterns, treatment strategies, and outcomes. We identified 304 patients with PA/VSD without MAPCAs from the Pediatric Health Information System database who underwent biventricular repair between January 1, 2003, and December 31, 2023. We compared in-hospital mortality, postoperative outcomes, and 1-year and 2-year mortality rates of patients receiving single-stage early complete repair, patent ductus arteriosus (PDA) stent, systemic-to-pulmonary artery shunt, or right ventricle-to-pulmonary artery (RV-PA) connection. Temporal trends in management strategies across 4 eras were also assessed. Of the 304 patients, 135 underwent single-stage complete repair, 41 received a PDA stent, 97 had a systemic-to-pulmonary artery shunt, and 31 had an RV-PA connection. In-hospital mortality after initial palliation was lower with systemic-to-pulmonary artery shunt than with early complete repair (2.1% vs 11.8%; P = .03). In-hospital mortality at complete repair was 9.1% (P = .04) for PDA stent, 4.8% (P = .4) for RV-PA connection, and no death in systemic-to-pulmonary artery shunt groups. The 2-year cumulative mortality was comparable between the groups, with Kaplan-Meier survival analysis showing no survival differences. Early complete repair of PA/VSD without MAPCAs is gaining prominence and yields short-term and midterm outcomes comparable to staged approaches.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

Trends in Survival and Short-Term Outcomes Among Preterm Infants Less Than 32 Weeks From 2016 to 2022: A Retrospective Cohort Study at a Tertiary Medical Center in the UAE.

Cureus
2026

Development of 3D-Printed Congenital Heart Disease Models Using Feasible Low-Cost Workflow - A Potential Tool to Improve Pediatric Cardiology Education.

Arquivos brasileiros de cardiologia
2026

Birth weight, ototoxic medication, and surgical history predict individual hearing loss risks: a systematic review and meta-analysis.

Frontiers in pediatrics
2026

A Complex Case of Ornithine Transcarbamylase Deficiency in a Patient With Severe Comorbid Conditions.

Clinical case reports
2025

Development and validation of a pre-trained language model for neonatal morbidities: a retrospective, multicentre, prognostic study.

The Lancet. Digital health
2025

Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.

BMJ case reports
2025

Dandy-Walker syndrome linked to amelia, genu recurvatum, haemangioma, complex congenital heart defects, schizencephaly, and dyslipidaemia: a case report.

BMC pediatrics
2025

SCAI Position Statement on Transcatheter Occlusion of Patent Ductus Arteriosus in Premature Infants.

Journal of the Society for Cardiovascular Angiography &amp; Interventions
2025

A Discourse on Percutaneous Closure of the Patent Ductus Arteriosus in Premature Neonates: Controversy, Remedy, or Paradox of Choice?

CJC pediatric and congenital heart disease
2025

Premature monozygotic twins with congenital diaphragmatic hernia: a case report.

Sudanese journal of paediatrics
2025

Evaluating the efficacy and safety of milrinone for prevention of post-patent ductus arteriosus closure syndrome (the MIDAS trial) in extremely preterm infants: a multicentre, double-masked, randomised, placebo-controlled trial.

BMJ open
2026

Treatment Strategies and Outcomes in Pulmonary Atresia With Ventricular Septal Defect Without Major Aortopulmonary Collateral Arteries in North America 2003-2023.

The Annals of thoracic surgery
2025

Joint effects of PM2.5 components during periconception on offspring congenital heart disease risk in Chongqing, China.

Environmental pollution (Barking, Essex : 1987)
2025

A retrospective study on the prevalence, management, and outcomes of congenital heart diseases in children at Edward Francis small teaching hospital, banjul, the Gambia.

BMC cardiovascular disorders
2025

[Genetic analysis for a pedigree with Structural heart defects and renal anomalies syndrome caused by variants of TMEM260 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Identification and Functional Characterization of a Novel SOX4 Mutation Predisposing to Coffin-Siris Syndromic Congenital Heart Disease.

Children (Basel, Switzerland)
2025

Venous Access Alone Versus Arterial and Venous Access for Patent Arterial Duct Device Closure in Childhood.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2025

Diagnostic and therapeutic precision in cardiovascular diseases in the neonatal intensive care.

Journal of perinatology : official journal of the California Perinatal Association
2025

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation.

HGG advances
2025

Beyond the Evidence: Psychological and Institutional Factors Shaping Patent Ductus Arteriosus Stent Adoption.

Pediatric cardiology
2025

Hemodynamic Risk Factors for Cerebellar Hemorrhage Presence and Volume in Infants Born Very Preterm.

The Journal of pediatrics
2025

A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.

American journal of medical genetics. Part A
2025

Patent ductus arteriosus closure in infants weighing less than 1500 g via a tiny microcatheter: a simple technique with zero-contrast exposure.

Cardiology in the young
2025

Clinical value of quantitative echocardiographic features in preterm infants with necrotizing enterocolitis.

Scientific reports
2025

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

European journal of medical genetics
2024

Demineralization of Osseous Structures as Presentation of a Rare Genetic Disorder That Is Associated With a High Rate of Mortality.

Case reports in endocrinology
2025

The effect of anti-scatter grids on radiation exposure during transcatheter patent ductus arteriosus closure in premature infants.

Cardiology in the young
2024

[CHARGE syndrome in a neonate].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2025

Supportive Care for Common Conditions in Small Vulnerable Newborns and Term Infants: The Evidence.

Neonatology
2025

Immediate Tissue Protrusion Following Patent Ductus Arteriosus Stent Placement.

Pediatric cardiology
2024

Radiation Reduction in Paediatric Cardiac Catheterization: We Can Go Even Lower.

CJC pediatric and congenital heart disease
2025

The effect of furosemide on extremely premature infants treated with nonsteroidal anti-inflammatory drugs for persistent patent ductus arteriosus.

Journal of perinatology : official journal of the California Perinatal Association
2024

Assessing the Frequency of Congenital Heart Diseases Among Children in Eastern Afghanistan.

Pediatric health, medicine and therapeutics
2024

Patent ductus arteriosus closure in small infants weighing less than 1500 g using KA micro plug: steps and tips.

Cardiology in the young
2024

The clinical characteristics and risk factors analysis within one week before the onset of necrotizing enterocolitis.

Scientific reports
2024

Focal dermal hypoplasia (Goltz Syndrome): A preterm neonate with multisystem anomalies-A case report.

SAGE open medical case reports
2025

Transcatheter Patent Ductus Arteriosus Closure in Premature Infants: Comparison of Echocardiogram and Angiogram Measurements.

Pediatric cardiology
2024

Selective early medical treatment of the patent ductus arteriosus in extremely low gestational age infants: a pilot randomised controlled trial protocol (SMART-PDA).

BMJ open
2024

Echocardiographic evaluation of left atrial volume and comparative analysis to left atrial to aortic root ratio in premature neonates and infants with patent ductus arteriosus.

Echocardiography (Mount Kisco, N.Y.)
2024

Optimal timing for plastic surgical procedures for common congenital anomalies: A review.

World journal of clinical pediatrics
2024

Comparison of Ductal Stent Versus Surgical Shunt as Initial Intervention for Neonates with Pulmonary Atresia with Intact Ventricular Septum.

Pediatric cardiology
2024

High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.

International journal of molecular sciences
2024

Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.

BMC medical genomics
2024

Transcatheter-Based Interventions for Tetralogy of Fallot Across All Age Groups.

JACC. Cardiovascular interventions
2024

Neonatal outcomes in preterm infants with severe congenital heart disease: a national cohort analysis.

Frontiers in pediatrics
2024

Successful one-stage surgical repair in a rare adult patient with berry syndrome.

Perfusion
2024

Mobile bedside ductus arteriosus closure in severely premature neonates using only echocardiographic guidance.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2024

Epidemiological Survey of Congenital Heart Disease Among Children Aged from 2 to 18 in Suo County, Nagqu, Tibet.

High altitude medicine &amp; biology
2024

Transcatheter Patent Ductus Arteriosus Closure in Premature Infants: A Multicenter Retrospective Study Comparing Available Devices.

Circulation. Cardiovascular interventions
2024

Experience of percutaneous closure of small to large patent ductus arteriosus with Nit-Occlud® device in a tertiary referral hospital in Colombia.

Archivos de cardiologia de Mexico
2024

Discovery of BMP10 as a new gene underpinning congenital heart defects.

American journal of translational research
2024

Whole-exome sequencing of pathogenic genes in a family with congenital heart disease: A case report.

Medicine
2024

Discovery and Characterization of VU0542270, the First Selective Inhibitor of Vascular Kir6.1/SUR2B KATP Channels.

Molecular pharmacology
2024

Decrease in lipid metabolic indexes in infants with neonatal respiratory distress syndrome.

Experimental and therapeutic medicine
2023

Natural History of a Disease: Patent Ductus Arteriosus Diagnosed on an Elderly Woman.

Cureus
2023

The Co-Existence of Patent Omphalomesenteric Duct and Omphalocele in Patau's Syndrome in Saudi Arabia: A Case Report.

Cureus
2023

Pattern of congenital heart defects among children in Jazan Region, Saudi Arabia: A five-year hospital-based study.

Journal of family medicine and primary care
2023

Down syndrome child with multiple heart diseases: A case report.

World journal of cardiology
2023

[Genetic analysis of a child with Complex cortical dysplasia with other brain malformations type 6 due to a p.M73V variant of TUBB gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2023

The Burden of Neonatal Referrals on a Pediatric Cardiology Service: A Local Center Experience.

Cureus
2024

Aortic dissection in a young male with persistent ductus arteriosus and a novel variant in MYLK.

American journal of medical genetics. Part A
2023

Prevalence of congenital anomalies and related factors in live births in Zahedan, Southeast of Iran: A cross-sectional study.

International journal of reproductive biomedicine
2023

Profile of cardiac lesions among laboratory confirmed congenital rubella syndrome (CRS) infants: a nationwide sentinel surveillance, India, 2016-22.

The Lancet regional health. Southeast Asia
2023

Association of the EPAS1 rs7557402 Polymorphism with Hemodynamically Significant Patent Ductus Arteriosus Closure Failure in Premature Newborns under Pharmacological Treatment with Ibuprofen.

Diagnostics (Basel, Switzerland)
2024

Prophylactic cyclo-oxygenase inhibitor drugs for the prevention of morbidity and mortality in extremely preterm infants: a clinical practice guideline incorporating family values and preferences.

Archives of disease in childhood. Fetal and neonatal edition
2024

A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus.

Forensic science, medicine, and pathology
2023

Growth of targeted neonatal echocardiography in Chinese neonatal intensive care units: gaps in practice and training.

European journal of pediatrics
2023

Patent ductus arteriosus (PDA) and response to late surfactant treatment in premature infants.

Journal of perinatology : official journal of the California Perinatal Association
2023

Novel mosaic TRAF7 likely pathogenic variant in an African American family.

American journal of medical genetics. Part A
2023

Application of Artificial Intelligence-Based Auxiliary Diagnosis in Congenital Heart Disease Screening.

Anatolian journal of cardiology
2022

Congenital heart disease - A complex cardiac anomaly: A case report.

Journal of family medicine and primary care
2023

Using omics to breathe new life into our understanding of the ductus arteriosus oxygen response.

Seminars in perinatology
2023

Evaluation of Health-Related Values and Preferences of Adults Who Were Preterm Infants and Parents of Preterm Infants Concerning Use of Prophylactic Cyclooxygenase Inhibitor Drugs.

JAMA network open
2023

Bronchopulmonary Dysplasia in Extremely Premature Infants: A Scoping Review for Identifying Risk Factors.

Biomedicines
2023

Two-staged surgical repair of Berry syndrome type 2B.

Interdisciplinary cardiovascular and thoracic surgery
2023

Survey on human milk feeding and enteral feeding practices for very-low-birth-weight infants in NICUs in China Neonatal Network.

BMC pediatrics
2023

Birth order and morbidity and mortality to hospital discharge among inborn very low-birthweight, very preterm twin infants admitted to neonatal intensive care: a retrospective cohort study.

Archives of disease in childhood. Fetal and neonatal edition
2022

Mid-term outcomes of right subaxillary approach versus median sternotomy incision for ventricular septal defect with patent ductus arteriosus.

BMC pediatrics
2022

A de novo partial trisomy 9p with Dandy-Walker malformation and ventriculomegaly.

Taiwanese journal of obstetrics &amp; gynecology
2022

Analysis of risk factors related to extremely and very preterm birth: a retrospective study.

BMC pregnancy and childbirth
2022

Fentanyl Exposure in Preterm Infants: Five-Year Neurodevelopmental and Socioemotional Assessment.

Frontiers in pain research (Lausanne, Switzerland)
2022

Low flow nasal cannula requirement among preterm infants: predictors and description of clinical course.

Journal of perinatology : official journal of the California Perinatal Association
2023

Novel DNMT3B Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery.

Endocrine, metabolic &amp; immune disorders drug targets
2022

TRAF7 somatic mosaicism in a patient with bilateral optic nerve sheath meningiomas: illustrative case.

Journal of neurosurgery. Case lessons
2022

Neurobehavior in very preterm infants with low medical risk and full-term infants.

Journal of perinatology : official journal of the California Perinatal Association
2022

An Unusual Diagnosis of Sporadic Type III Osteogenesis Imperfecta in the First Day of Life.

Case reports in pediatrics
2022

Risk Factors of Extubation Failure in Intubated Preterm Infants at a Tertiary Care Hospital in Oman.

Sultan Qaboos University medical journal
2022

Feasibility, Safety, and Short-Term Outcomes of Transcatheter Patent Ductus Arteriosus Closure in Premature Infants on High-Frequency Jet Ventilation.

Journal of the American Heart Association
2022

Congenital malformations: Prevalence and characteristics of newborns admitted into Federal Medical Center, Asaba.

Health science reports
2022

Comparison of neonatal morbidity and mortality between single-room and open-bay care: a retrospective cohort study.

Archives of disease in childhood. Fetal and neonatal edition
2022

Clinical and neuroimaging features of a familial pathogenic ACTA2 variant as a model of a vascular neurocristopathy.

Neuroradiology
2022

A novel PRRX1 loss-of-function variation contributing to familial atrial fibrillation and congenital patent ductus arteriosus.

Genetics and molecular biology
2022

A novel KLF13 mutation underlying congenital patent ductus arteriosus and ventricular septal defect, as well as bicuspid aortic valve.

Experimental and therapeutic medicine
2022

Caffeine and bronchopulmonary dysplasia: Clinical benefits and the mechanisms involved.

Pediatric pulmonology
2024

Neurodevelopmental Outcomes following Preterm Birth and the Association with Postmenstrual Age at Discharge.

American journal of perinatology
2022

Expression of the microRNA-30 family in pulmonary arterial hypertension and the role of microRNA-30d-5p in the regulation of pulmonary arterial smooth muscle cell toxicity and apoptosis.

Experimental and therapeutic medicine
2021

Prevalence of congenital heart disease among patients with down syndrome in Southwestern Saudi Arabia.

Annals of African medicine
2021

Bedside Transcatheter Patent Ductus Arteriosus Device Occlusion in an Extremely Low Birth Weight Neonate: A Novel Approach in a High-Risk Population.

Case reports in anesthesiology
2021

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.

Molecular genetics &amp; genomic medicine
2021

Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3.

Molecular genetics &amp; genomic medicine
2020

Early targeted patent ductus arteriosus treatment in premature neonates using a risk based severity score: study protocol for a randomised controlled trial (PDA RCT).

HRB open research
2021

The effects of WeChat follow-up management to improve the parents' mental status and the quality of life of premature newborns with patent ductus arteriosus.

Journal of cardiothoracic surgery
2021

Cardiac anomalies associated with Escobar syndrome: A case report and a review of the literature.

Medicine
2023

Association of Surgical Necrotizing Enterocolitis and Its Timing with Retinopathy of Prematurity.

American journal of perinatology
2021

Incidence and Recovery of Vocal Fold Immobility Following Pediatric Cardiac Operations.

World journal for pediatric &amp; congenital heart surgery
2021

The molecular mechanisms of oxygen-sensing in human ductus arteriosus smooth muscle cells: A comprehensive transcriptome profile reveals a central role for mitochondria.

Genomics
2021

Telemedicine usage via WeChat for children with congenital heart disease preoperatively during COVID-19 pandemic: a retrospective analysis.

International journal for quality in health care : journal of the International Society for Quality in Health Care
2021

Maternal and Perinatal Factors Associated With Twin Pregnancies in Ecuador.

Twin research and human genetics : the official journal of the International Society for Twin Studies
2021

Transcription factor AP-2beta in development, differentiation and tumorigenesis.

International journal of cancer
2021

Patent ductus arteriosus shunt elimination results in a reduction in adverse outcomes: a post hoc analysis of the PDA RCT cohort.

Journal of perinatology : official journal of the California Perinatal Association
2021

Application of Left Axillary Incision in Patent Ductus Arteriosus Ligation.

The heart surgery forum
2021

Association of hemoglobin and spontaneous closure of the ductus arteriosus during the transitional period in very low birth weight infants.

Journal of neonatal-perinatal medicine
2021

Prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother.

Taiwanese journal of obstetrics &amp; gynecology
2021

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

BMC medical genomics
2021

Toward a Rational Approach to Patent Ductus Arteriosus Trials: Selecting the Population of Interest.

The Journal of pediatrics
2021

Fate of the Left Pulmonary Artery and Thoracic Aorta After Transcatheter Patent Ductus Arteriosus Closure in Low Birth Weight Premature Infants.

Pediatric cardiology
2021

The impact preload on left ventricular three-plane deformation measurements in extremely premature infants.

Early human development
2020

Measuring parent proxy-reported quality of life of 11 rare diseases in children in Zhejiang, China.

Health and quality of life outcomes
2020

Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature.

JIMD reports
2020

Temporal trends of care practices, morbidity, and mortality of extremely preterm infants over 10-years in South Wales, UK.

Scientific reports
2021

A Pilot Randomized Controlled Trial of Early Targeted Patent Ductus Arteriosus Treatment Using a Risk Based Severity Score (The PDA RCT).

The Journal of pediatrics
2020

Antenatal occlusion of a ductal arteriosus aneurysm: a potential postnatal surgical emergency. Case report and literature review.

Cardiology in the young
2020

Incidence and Risk Factors for Retinopathy of Prematurity in Tabuk City, KSA.

Middle East African journal of ophthalmology
2020

Grading the evidence to identify strategies to modify risk for necrotizing enterocolitis.

Pediatric research
2021

Rare association of absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: Assessment in a newborn with CT Angiography.

Journal of cardiovascular computed tomography
2020

Acute Liver Failure in a Pediatric Patient with Tetralogy of Fallot following Cardiac Catheterization.

Case reports in anesthesiology
2020

Antenatal care of mothers and morbidity and mortality disparities among preterm Saudi and non-Saudi infants less than or equal to 32 weeks' gestation.

Annals of Saudi medicine
2020

A novel homozygous TPM1 mutation in familial pediatric hypertrophic cardiomyopathy and in silico screening of potential targeting drugs.

European review for medical and pharmacological sciences
2021

Duct stenting versus modified Blalock-Taussig shunt in neonates and infants with duct-dependent pulmonary blood flow: A systematic review and meta-analysis.

The Journal of thoracic and cardiovascular surgery
2020

Precision medicine in neonatal hemodynamics: need for prioritization of mechanism of illness and defining population of interest.

Journal of perinatology : official journal of the California Perinatal Association
2020

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

Annals of pediatric cardiology
2020

Tracheostomy in Very Low Birth Weight Infants: A Prospective Multicenter Study.

Pediatrics
2020

Exome-Based Case-Control Analysis Highlights the Pathogenic Role of Ciliary Genes in Transposition of the Great Arteries.

Circulation research
2021

Postnatal ophthalmological characteristics in patients with congenital cataract diagnosed by fetal ultrasonography.

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
2019

Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis.

Molecular cytogenetics
2020

Novel SPEG variant cause centronuclear myopathy in China.

Journal of clinical laboratory analysis
2020

Nephrotoxic medications and acute kidney injury risk factors in the neonatal intensive care unit: clinical challenges for neonatologists and nephrologists.

Pediatric nephrology (Berlin, Germany)
2019

The expanding phenotypes of cohesinopathies: one ring to rule them all!

Cell cycle (Georgetown, Tex.)
2019

Incidental finding of pulmonary artery aneurysm revealing a congenital heart defect.

BMJ case reports
2019

Pregnancy with Heart Disease: Maternal Outcomes and Risk Factors for Fetal Growth Restriction.

International journal of environmental research and public health
2019

Double-outlet left ventricle: A rare case.

Journal of family medicine and primary care
2019

Outcomes of singleton small for gestational age preterm infants exposed to maternal hypertension: a retrospective cohort study.

Pediatric research
2019

Congenital heart disease in harlequin ichthyosis: Case series.

Journal of family medicine and primary care
2019

Factors related to survival discharge in trisomy 18: A retrospective multicenter study.

American journal of medical genetics. Part A
2019

Probiotics to prevent infantile colic.

The Cochrane database of systematic reviews
2019

Dichotomizing the spectrum of ductal shunt places long-term outcomes research at risk.

The Journal of pediatrics
2019

Prenatal arsenic exposure alters the placental expression of multiple epigenetic regulators in a sex-dependent manner.

Environmental health : a global access science source
2019

Overview of transcatheter patent ductus arteriosus closure in preterm infants.

Congenital heart disease
2019

Family reflections: Prematurity-practitioner influence on the lived experience of the parenting role.

Pediatric research
2019

Complex pulmonary arteriovenous fistula in mother and daughter: Case report.

Medicine
2019

Hypoxia-induced ARHGAP26 deficiency inhibits the proliferation and migration of human ductus arteriosus smooth muscle cell through activating RhoA-ROCK-PTEN pathway.

Journal of cellular biochemistry
2019

ISL1 loss-of-function mutation contributes to congenital heart defects.

Heart and vessels
2019

Treatment of fetal circular shunt with non-steroidal anti-inflammatory drugs.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2018

Prenatal diagnosis of a familial 5p14.3-p14.1 deletion encompassing CDH18, CDH12, PMCHL1, PRDM9 and CDH10 in a fetus with congenital heart disease on prenatal ultrasound.

Taiwanese journal of obstetrics &amp; gynecology
2018

Association between 5,10-methylenetetrahydrofolate, gene polymorphism and congenital heart disease.

Journal of biological regulators and homeostatic agents
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
2018

Bilateral Ductus Arteriosus and Discontinuity of the Pulmonary Branches and Pulmonary Atresia: An Unusual Anatomy Diagnosed by Echocardiography.

CASE (Philadelphia, Pa.)
2018

Flexible bronchoscopy in pulmonary diseases in children with congenital cardiovascular abnormalities.

Experimental and therapeutic medicine
2018

Tfap2b mutation in mice results in patent ductus arteriosus and renal malformation.

The Journal of surgical research
2018

Cardiopulmonary Adaptation During First Day of Life in Human Neonates.

The Journal of pediatrics
2018

A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics.

Clinical dysmorphology
2018

Cardiac findings in infants with in utero exposure to Zika virus- a cross sectional study.

PLoS neglected tropical diseases
2018

The Preterm Heart in Childhood: Left Ventricular Structure, Geometry, and Function Assessed by Echocardiography in 6-Year-Old Survivors of Periviable Births.

Journal of the American Heart Association
2018

Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.

American journal of medical genetics. Part A
2018

Echocardiographic Detection of Increased Ventricular Diastolic Stiffness in Pediatric Heart Transplant Recipients: A Pilot Study.

Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography
2017

MEF2C loss-of-function mutation contributes to congenital heart defects.

International journal of medical sciences
2018

Longitudinal measures of deformation are associated with a composite measure of contractility derived from pressure-volume loop analysis in children.

European heart journal. Cardiovascular Imaging
2017

Intraoperative High-Frequency Jet Ventilation Is Equivalent to Conventional Ventilation During Patent Ductus Arteriosus Ligation.

World journal for pediatric &amp; congenital heart surgery
2017

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

Medicine
2018

Atropine use may lead to post-operative respiratory acidosis in neonates receiving ductal ligation: A retrospective cohort study.

Pediatrics and neonatology
2017

Prostaglandin E1-Induced Periostitis and Reversibility with Discontinuation.

The Journal of pediatrics
2017

Functional Analyses of a Novel CITED2 Nonsynonymous Mutation in Chinese Tibetan Patients with Congenital Heart Disease.

Pediatric cardiology
2017

Familial clustering of congenital deafness, patent ductus arteriosus, Eisenmenger complex, and differential cyanosis: A case report.

Medicine
2017

Normal Left Ventricular Size in Premature Newborns by the Echocardiographic Bullet Method.

American journal of perinatology
2017

Mortality, rehospitalizations and costs in children undergoing a cardiac procedure in their first year of life in New South Wales, Australia.

International journal of cardiology
2017

Is the C242T Polymorphism of the CYBA Gene Linked with Oxidative Stress-Associated Complications of Prematurity?

Antioxidants &amp; redox signaling
2017

Patent ductus arteriosus and pulmonary arterial hypertension: Is it closer to closure?

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2017

Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.

Diagnostic pathology
2016

Morbidity and mortality of very low birth weight infants in Taiwan-Changes in 15 years: A population based study.

Journal of the Formosan Medical Association = Taiwan yi zhi
2017

Population based report on health related quality of life in adolescents born very preterm.

Early human development
2016

Transcatheter Closure of Patent Ductus Arteriosus in Extremely Premature Newborns: Early Results and Midterm Follow-Up.

JACC. Cardiovascular interventions
2016

Genealogical and molecular analysis of a family-based cohort of congenital heart disease patients from the São Miguel Island (Azores, Portugal).

Annals of human biology
2017

Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

Journal of child neurology
2017

Birth at 22 gestational weeks: case report of cognitive resilience.

The Clinical neuropsychologist
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
2016

Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.

Circulation. Cardiovascular genetics
2016

Genetic Modifiers of Patent Ductus Arteriosus in Term Infants.

The Journal of pediatrics
2016

Late onset of large benign ductus arteriosus aneurysm presented with increased nuchal translucency and cystic hygroma at first trimester Down syndrome screening.

Taiwanese journal of obstetrics &amp; gynecology
2016

[Clinical treatment of infective endocarditis with vegetations in pregnant women and the outcomes of gestation].

Zhonghua fu chan ke za zhi
2016

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.

Molecular genetics and metabolism
2016

The AP-2 Transcription Factor APTF-2 Is Required for Neuroblast and Epidermal Morphogenesis in Caenorhabditis elegans Embryogenesis.

PLoS genetics
2016

Validation of Noninvasive Measures of Left Ventricular Mechanics in Children: A Simultaneous Echocardiographic and Conductance Catheterization Study.

Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography
2016

Very Low Birth Weight Monochorionic Diamniotic Twins as a Risk Factor for Symptomatic Patent Ductus Arteriosus.

Neonatology
2016

Effectiveness of cardiac surgery in patients with trisomy 18: a single-institutional experience.

Cardiology in the young
2016

Notch signal reception is required in vascular smooth muscle cells for ductus arteriosus closure.

Genesis (New York, N.Y. : 2000)
2016

Bloodless Repair of Isolated Pulmonary Artery in a Neonate.

World journal for pediatric &amp; congenital heart surgery
2016

Congenital Heart Disease in Local and Migrant Elementary Schoolchildren in Dongguan, China.

The American journal of cardiology
2016

Management of women with epilepsy: from preconception to post-partum.

Archives of gynecology and obstetrics

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Doenças relacionadas

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Ordenadas pelo número de sintomas em comum.

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. Birth weight, ototoxic medication, and surgical history predict individual hearing loss risks: a systematic review and meta-analysis.
    Frontiers in pediatrics· 2026· PMID 41727762mais citado
  2. Trends in Survival and Short-Term Outcomes Among Preterm Infants Less Than 32 Weeks From 2016 to 2022: A Retrospective Cohort Study at a Tertiary Medical Center in the UAE.
    Cureus· 2026· PMID 41859613mais citado
  3. Development of 3D-Printed Congenital Heart Disease Models Using Feasible Low-Cost Workflow - A Potential Tool to Improve Pediatric Cardiology Education.
    Arquivos brasileiros de cardiologia· 2026· PMID 41779486mais citado
  4. A Complex Case of Ornithine Transcarbamylase Deficiency in a Patient With Severe Comorbid Conditions.
    Clinical case reports· 2026· PMID 41727747mais citado
  5. Treatment Strategies and Outcomes in Pulmonary Atresia With Ventricular Septal Defect Without Major Aortopulmonary Collateral Arteries in North America 2003-2023.
    The Annals of thoracic surgery· 2026· PMID 40848887mais citado
  6. Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.
    BMJ Case Rep· 2025· PMID 41412937recente
  7. Evaluating the efficacy and safety of milrinone for prevention of post-patent ductus arteriosus closure syndrome (the MIDAS trial) in extremely preterm infants: a multicentre, double-masked, randomised, placebo-controlled trial.
    BMJ Open· 2025· PMID 40858367recente
  8. Venous Access Alone Versus Arterial and Venous Access for Patent Arterial Duct Device Closure in Childhood.
    Catheter Cardiovasc Interv· 2025· PMID 40394987recente
  9. The effect of anti-scatter grids on radiation exposure during transcatheter patent ductus arteriosus closure in premature infants.
    Cardiol Young· 2025· PMID 39670666recente
  10. Immediate Tissue Protrusion Following Patent Ductus Arteriosus Stent Placement.
    Pediatr Cardiol· 2025· PMID 39547973recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:466729(Orphanet)
  2. MONDO:0011827(MONDO)
  3. Variantes catalogadas(ClinVar)
  4. Busca completa no PubMed(PubMed)
  5. Q56014199(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

Persistência do canal arterial familiar
Compêndio · Raras BR

Persistência do canal arterial familiar

ORPHA:466729 · MONDO:0011827
CID-10
Q25.0 · Permeabilidade do canal arterial
CID-11
MedGen
UMLS
C4282128
Wikidata
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