A síndrome linfedema-comunicação interatrial-alterações faciais é caracterizada por linfedema congênito dos membros inferiores, comunicação interatrial e fácies característica (face redonda com testa proeminente, ponte nasal plana com ponta nasal larga, pregas epicânticas, lábio superior fino e queixo fendido). Foi descrito em dois irmãos e uma irmã. A transmissão parece ser autossômica recessiva.
Introdução
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A síndrome linfedema-comunicação interatrial-alterações faciais é caracterizada por linfedema congênito dos membros inferiores, comunicação interatrial e fácies característica (face redonda com testa proeminente, ponte nasal plana com ponta nasal larga, pregas epicânticas, lábio superior fino e queixo fendido). Foi descrito em dois irmãos e uma irmã. A transmissão parece ser autossômica recessiva.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
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Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 23 características clínicas mais associadas, ordenadas por frequência.
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Os sinais que médicos procuram e os exames que confirmam
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Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de linfedema-defeitos do septo auricular-alterações faciais
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Publicações mais relevantes
Protocol for an open-label, randomised, controlled trial to evaluate the efficacy and safety of sotatercept add-on therapy compared with pulmonary vasodilator-based standard of care for pulmonary vasodilator-resistant pulmonary arterial hypertension associated with unrepaired congenital shunts (atrial septal defect, ventricular septal defect or patent ductus arteriosus), including Eisenmenger syndrome: the SuMILE trial.
Eisenmenger syndrome and pulmonary arterial hypertension (PAH) due to unrepaired congenital shunts, including atrial septal defect (ASD), ventricular septal defect (VSD) and patent ductus arteriosus (PDA), remain life-threatening conditions despite advances in congenital heart disease (CHD) care. In this population, vasodilator-based therapies effective in other forms of PAH have shown limited benefit, and no disease-modifying treatment has been established. Sotatercept, an activin-signalling inhibitor, improved exercise capacity and haemodynamics in phase 2/3 PAH trials; however, patients with unrepaired CHD, including Eisenmenger syndrome, were excluded. The efficacy and safety of sotatercept in this population remain unknown. The SuMILE trial is a prospective, exploratory, multicentre, open-label, randomised, controlled trial conducted at 11 Japanese tertiary centres. 36 adults with vasodilator-resistant PAH due to unrepaired ASD, VSD or PDA, including Eisenmenger syndrome, will be randomised 2:1 to sotatercept add-on therapy plus vasodilator-based PAH therapy versus vasodilator-based PAH therapy alone. Sotatercept will be administered subcutaneously every 3 weeks in accordance with label-approved dose-modification rules for haemoglobin and platelet changes. The primary endpoint is the change in 6-min walk distance from baseline to week 24. Key clinical events will be independently adjudicated. Secondary endpoints include all-cause mortality or lung transplantation; pulmonary hypertension-related hospitalisation or initiation of parenteral prostacyclin and changes in WHO functional class, N-terminal pro-brain natriuretic peptide and emPHasis-10. Exploratory endpoints include genotype, right heart catheterisation and cardiac MRI parameters. The primary analysis will use ANCOVA, adjusting for baseline 6-min walk distance and randomisation stratum in the intention-to-treat population. The protocol has been reviewed and approved by the certified central review board (Kyushu University Hospital Clinical Ethics Review Board) and participating institutions. Written informed consent will be obtained from all participants. Findings will be disseminated through peer-reviewed journals, scientific conferences and trial registries. Japan Registry of Clinical Trials no. 1071250069; ClinicalTrials.gov NCT07356778. Protocol version and date: V.1.3; 23 October 2025.
Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.
Neurofibromatosis type 1 (NF1) is an autosomal dominant syndrome caused by mutations in the NF1 gene. Although cardiac abnormalities have been observed in NF1, they are frequently overlooked due to a lack of routine cardiac surveillance. Myocardial strain imaging offers a sensitive and non-invasive method for detecting early subclinical myocardial dysfunction. This study aims to detect cardiac abnormalities in children with NF1 using conventional echocardiography, Doppler tissue imaging (DTI), and myocardial strain analysis. A case-control study was conducted on 38 asymptomatic children with clinically confirmed NF1 and 35 healthy, age- and sex-matched controls. All patients underwent ECG, conventional echocardiography, DTI, and two-dimensional speckle-tracking echocardiography. NF1 patients showed significantly decreased ejection fraction (p = 0.0009) and higher interventricular septal and posterior wall thickness during systole (p < 0.0001). DTI revealed reduced mitral systolic (Sm) and early diastolic (Em) velocities, longer isovolumic contraction and relaxation periods, and increased LV Tei index values (p < 0.0001), indicating combined systolic and diastolic dysfunction. Also, myocardial strain analysis in NF1 children revealed considerably lower peak systolic left ventricular global longitudinal strain (LVGLS) (p 0.0014), as well as lower peak systolic septal and lateral wall strain values (p 0.0046, 0.0027), respectively. Conclusion: Children with NF1 show early subclinical myocardial dysfunction, even when there is no hypertension or overt cardiac symptoms. These findings highlight the significance of frequent echocardiographic screening, including strain imaging, for the early diagnosis and longitudinal monitoring of heart function in NF1 children. What is Known: • Neurofibromatosis type 1 (NF1) is a multisystem syndrome that can involve the cardiovascular system. • Previous studies showed hypertrophic cardiac changes in NF1 patients, but data in children, especially those without hypertension, are limited, as routine echocardiography is not involved in NF1 management. What is New: • Our study revealed early subclinical myocardial dysfunction in NF1 children without the presence of hypertension or overt cardiac symptoms. • This emphasizes the potential of myocardial strain imaging as a sensitive tool for early detection of myocardial dysfunction in NF1 children, thereby supporting the need for routine echocardiographic surveillance in these patients.
Influence of atrial septal defect on mitral valve growth after repair of coarctation of the aorta or an interrupted aortic arch in infants.
Patients with coarctation of the aorta (CoA) and an interrupted aortic arch (IAA) may present with small mitral valves (MVs) and a reduced left ventricular (LV) volume. Biventricular repair (BVR) in these patients is dependent on adequate size of the left cardiac structures. This study evaluated the impact of the hemodynamic characteristics of atrial septal defects (ASDs) on MV growth following surgical repair. We retrospectively reviewed the data of patients diagnosed with CoA or IAA between 2007 and 2024. The z score for MV size measured 6 months postoperatively (Z2) was compared with the preoperative MV size (Z1). The factors associated with MV growth were also studied. A total of 161 patients with CoA or IAA were included. Transthoracic echocardiography was used to assess the MV and LV dimensions preoperatively and 6 months postoperatively. Of the cohort, 155 (96.3%) underwent initial BVR and 6 underwent single-ventricle palliation. MV z scores significantly increased following BVR (mean change: +0.45±1.35; P<0.001) but decreased after single-ventricle repair (-0.56±0.49, P=0.04). Multivariate analysis identified the initial MV z score and ASD pressure gradient as independent predictors of MV growth (R²=0.39). Annular growth of the MV was not observed in patients who underwent single-ventricle palliation. In contrast, among patients who achieved BVR, those with a small preoperative MV annulus and low ASD pressure gradient demonstrated subsequent catch-up MV growth, suggesting that adequate left-sided preload is essential for MV development.
Chronic suppression of monoacylglycerol lipase restores adult neurogenesis in the septal but not the temporal DG in Ts65Dn mouse model of Down syndrome.
Down syndrome (DS) is a genetic disorder characterized by cognitive impairment and varying degrees of changes in emotion-related behaviors. A deficiency in adult hippocampal neurogenesis is among the cellular mechanisms implicated in both abnormalities. Previously, we observed that chronic inhibition of monoacylglycerol lipase (MAGL) with the selective inhibitor JZL184 increased brain levels of the endocannabinoid 2-arachidonoylglycerol (2-AG), improved hippocampal synaptic plasticity and long-term memory, but did not affect anxiety-related thigmotactic behavior in Ts65Dn mice, a genetic model of DS. In this study, we tested the hypothesis that these effects of JZL184 might be associated with changes in adult hippocampal neurogenesis. Ts65Dn mice and their normosomic (2 N) littermates were injected daily for 3 weeks with JZL184 or vehicle, and bromodeoxyuridine (BrdU) was co-administered during the chronic phase of the treatment. BrdU-immunopositive cells were quantified in the septal, medial, and temporal segments of the dentate gyrus (DG). It was observed that both the total number and the density of BrdU-positive cells were significantly reduced in Ts65Dn mice compared to their 2 N littermate controls. Strikingly, JZL184 treatment effects exhibited a profound septo-temporal bias: the BrdU-immunopositive cell density was restored to near control levels in the septal DG (a region presumably linked to cognitive function), but it was largely unaffected in the temporal DG (presumably associated with emotion-related behaviors). These results suggest that chronic MAGL inhibition may provide a targeted region-specific therapeutic strategy for cognitive impairment in Down syndrome, potentially independent of its effects on emotional behavior.
Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.
Floating-Harbor syndrome (FHS) is a rare disorder characterized by facial dysmorphism, short stature, and delayed language development. We evaluated the clinical features and treatment outcomes of 10 Chinese children with FHS who received recombinant human growth hormone (rhGH) therapy or nutritional intervention. We retrospectively extracted the clinical features, height standard deviation score (SDS), genetic characteristics, and treatment outcomes from the medical records of 10 Chinese children with FHS. The treatment response was classified as good, moderate, or poor based on annual height SDS change and height velocity. All patients presented with short stature at diagnosis, distinct facial features, and non-specific skeletal abnormalities. All patients had delayed language development, feeding difficulties, intellectual disability, and diverse organ abnormalities. Whole-exome sequencing (WES) identified pathogenic or likely pathogenic variants in exon 34 of SRCAP, and eight mutations were identified, including three variants (c.7225dupG;p.Ala2409GlyfsTer34, c.7382delC;p.Pro2461GlnfsTer 14, and c.7255C > T;p.Gln2419Ter) that had not been previously reported in case reports. Eight patients were treated with rhGH, six of whom demonstrated good responses, one a moderate response, and one a poor response. One patient with a contraindication to rhGH treatment achieved meaningful height SDS improvement after nutritional therapy. Although FHS is a rare condition, we characterized its clinical features in a Chinese patient cohort. RhGH improved height in most patients, and nutritional optimization appeared to support growth in one child. • Floating-Harbor syndrome (FHS) is a rare genetic disorder characterized by facial dysmorphism and short stature, and it is often treated with growth hormone. The majority of documented cases of FHS have historically been concentrated within Western populations. The number of cases reported in Asian countries remains small. • We report three SRCAP variants that have not been previously documented in case reports among 10 Chinese children with FHS. Most children showed favorable short-term responses to recombinant human growth hormone, and one child demonstrated an improvement in height standard deviation score with structured nutritional therapy alone.
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Danish medical journalHypoxemia found after hospitalization with right hemiplegia due to cerebral infarction: platypnea-orthodeoxia syndrome in the older people.
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Frontiers in medicineInsights from 3D Echocardiography in Hypoplastic Left Heart Syndrome Patients Undergoing TV Repair.
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PerfusionMaternal Hyperoxygenation Testing in Fetuses with Hypoplastic Left-Heart Syndrome: Association with Postnatal Atrial Septal Restriction.
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Cardiology in the youngRadiological features of pulmonary fat embolism in trauma patients: a case series.
Emergency radiologyDifferences in Placental Histology Between Zika Virus-infected Teenagers and Older Women.
International journal of gynecological pathology : official journal of the International Society of Gynecological PathologistsProfiling Basal Forebrain Cholinergic Neurons Reveals a Molecular Basis for Vulnerability Within the Ts65Dn Model of Down Syndrome and Alzheimer's Disease.
Molecular neurobiologyBack somersault-induced atrioventricular nodal reentrant tachycardia - A case of a 15-year-old promising gymnast.
Journal of cardiology casesEvaluation of pulmonary involvement in systemic rheumatic diseases with high resolution computed tomography and pulmonary function test: A single-center experience.
Tuberkuloz ve toraksLeptin Attenuates Cardiac Hypertrophy in Patients With Generalized Lipodystrophy.
The Journal of clinical endocrinology and metabolismTricuspid Valve Tethering Is Associated with Residual Regurgitation after Valve Repair in Hypoplastic Left Heart Syndrome: A Three-Dimensional Echocardiographic Study.
Journal of the American Society of Echocardiography : official publication of the American Society of EchocardiographyPost-operative course of pulmonary artery pressure after complete atrioventricular canal defect repair.
Cardiology in the youngClinical and genetic findings in patients with congenital cataract and heart diseases.
Orphanet journal of rare diseasesSegmental septal dyskinesia associated with an accessory pathway and preexcitation in two Golden Retriever dogs.
Journal of veterinary cardiology : the official journal of the European Society of Veterinary CardiologyClinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant.
Journal of pediatric geneticsProspective Case-Control Study of Cardiovascular Abnormalities 6 Months Following Mild COVID-19 in Healthcare Workers.
JACC. Cardiovascular imagingTruncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
American journal of human geneticsSeptal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome.
Scientific reportsUtility of Fetal Cardiovascular Magnetic Resonance for Prenatal Diagnosis of Complex Congenital Heart Defects.
JAMA network openQuantification of Cardiac Kinetic Energy and Its Changes During Transmural Myocardial Infarction Assessed by Multi-Dimensional Seismocardiography.
Frontiers in cardiovascular medicineTrends in the prenatal diagnosis of trisomy 21 show younger maternal age and shift in the distribution of congenital heart disease over a 20-year period.
American journal of medical genetics. Part AImpact of prenatal screening on congenital heart defects in neonates with Down syndrome in the US.
Pediatric researchTrends in US Pediatric Hospital Admissions in 2020 Compared With the Decade Before the COVID-19 Pandemic.
JAMA network openRegeneration Profiles of Olfactory Epithelium after SARS-CoV-2 Infection in Golden Syrian Hamsters.
ACS chemical neuroscienceCerebral Vasculopathy and Spinal Arachnoiditis: Two Rare Complications of Ventriculitis Post Subarachnoid Hemorrhage.
CureusGeneration of a TBX5 homozygous knockout embryonic stem cell line (WAe009-A-45) by CRISPR/Cas9 genome editing.
Stem cell researchDoes obesity influence ventricular repolarisation in children?
Cardiology in the youngThrombocytopenia-Absent Radius (TAR): Case report of dental implant and surgical treatment.
Journal of clinical and experimental dentistry[Cardiac functional alterations and its risk factors in elderly patients with obstructive sleep apnea syndrome free of cardiovascular disease].
Nan fang yi ke da xue xue bao = Journal of Southern Medical UniversityCOVID-19 pneumonia: the great radiological mimicker.
Insights into imagingMyocardial bridging-an unusual cause of Wellens syndrome: A case report.
MedicineWhat is the mechanism of narrow paced QRS duration during left bundle branch area pacing? A case report.
European heart journal. Case reportsSimilarities and Differences of Early Pulmonary CT Features of Pneumonia Caused by SARS-CoV-2, SARS-CoV and MERS-CoV: Comparison Based on a Systemic Review.
Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chihCommon atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Human mutationA rare cause of abnormal pulmonary venous drainage: septum primum malposition.
Cardiology in the youngCardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.
Frontiers in pediatricsBlue toe syndrome caused by emboli from anomalous left atrial septal pouch thrombus: a case report.
Thrombosis journalLiver stiffness value obtained by point shear-wave elastography is significantly related with atrial septal defect size.
Diagnostic and interventional radiology (Ankara, Turkey)Clinical and radiological features of novel coronavirus pneumonia.
Journal of X-ray science and technologyQuantitative Neurotoxicology: An Assessment of the Neurotoxic Profile of Kainic Acid in Sprague Dawley Rats.
International journal of toxicologyMarked Up-Regulation of ACE2 in Hearts of Patients With Obstructive Hypertrophic Cardiomyopathy: Implications for SARS-CoV-2-Mediated COVID-19.
Mayo Clinic proceedingsAngiotensin-Converting Enzyme Inhibitor Prescription for Patients With Single Ventricle Physiology Enrolled in the NPC-QIC Registry.
Journal of the American Heart AssociationComparison of safety and outcomes with two approaches to the mitral valve.
Journal of cardiac surgeryTransthoracic echocardiography features of adult-type anomalous left coronary artery from the pulmonary artery before and after surgery: highlights from observational study in a single center of China.
The international journal of cardiovascular imagingComplement associated microvascular injury and thrombosis in the pathogenesis of severe COVID-19 infection: A report of five cases.
Translational research : the journal of laboratory and clinical medicineMulti-detector computed tomography in the assessment of tetralogy of Fallot patients: is it a must?
The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of CardiologyEffects of Adrenocorticotropic Hormone Treatment on Heart Muscle in Patients with Infantile Spasm.
CureusMorphological and Functional Characteristics of Animal Models of Myocardial Fibrosis Induced by Pressure Overload.
International journal of hypertensionMyocarditis presenting as typical acute myocardial infarction: A case report and review of the literature.
World journal of clinical casesRegulation of CRF mRNA in the Rat Extended Amygdala Following Chronic Cocaine: Sex Differences and Effect of Delta Opioid Receptor Agonism.
The international journal of neuropsychopharmacologyPathology Of "Post-Upper Blepharoplasty Syndrome": Implications For Upper Eyelid Reconstruction.
Clinical ophthalmology (Auckland, N.Z.)Diagnosis and treatment of abnormal left coronary artery originating from the pulmonary artery: A single-center experience.
Anatolian journal of cardiologyGrowth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.
Hormone research in paediatricsPulmonary embolism mimicking acute myocardial infarction: a case report and review of literature.
The Pan African medical journalNational population-based estimates for major birth defects, 2010-2014.
Birth defects researchEmergent high fatality lung disease in systemic juvenile arthritis.
Annals of the rheumatic diseasesClinical Outcome of Extraanatomic Bypass for Midaortic Syndrome Caused by Takayasu Arteritis.
The Annals of thoracic surgerySingle Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome.
CellEndocarditis and bacterial brain abscess in a young woman with a single atrium, patent ductus arteriosus, and Eisenmenger syndrome: A case report.
MedicineNasal Surgery May Improve Upper Airway Collapse in Patients With Obstructive Sleep Apnea: A Drug-Induced Sleep Endoscopy Study.
The Journal of craniofacial surgeryEchocardiographic assessment of left ventricular systolic function in neonatal calves with naturally occurring sepsis or septic shock due to diarrhea.
Research in veterinary scienceRetrograde transcatheter aortic valve closure in an infant with failing Norwood stage I palliation: a case report.
Journal of medical case reportsLong Survival of a Patient with Trisomy 18 and Dandy-Walker Syndrome.
Medicina (Kaunas, Lithuania)The Impact of Technology on the Diagnosis of Congenital Malformations.
American journal of epidemiologyEchocardiographic Findings in Patients with Mild to Moderate Chronic Kidney Disease without Symptomatic Heart Failure: A Population-Based Study.
Cardiorenal medicineTen-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country.
European journal of pediatricsEffect of ipragliflozin, an SGLT2 inhibitor, on cardiac histopathological changes in a non-diabetic rat model of cardiomyopathy.
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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.
- Protocol for an open-label, randomised, controlled trial to evaluate the efficacy and safety of sotatercept add-on therapy compared with pulmonary vasodilator-based standard of care for pulmonary vasodilator-resistant pulmonary arterial hypertension associated with unrepaired congenital shunts (atrial septal defect, ventricular septal defect or patent ductus arteriosus), including Eisenmenger syndrome: the SuMILE trial.
- Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.
- Influence of atrial septal defect on mitral valve growth after repair of coarctation of the aorta or an interrupted aortic arch in infants.
- Chronic suppression of monoacylglycerol lipase restores adult neurogenesis in the septal but not the temporal DG in Ts65Dn mouse model of Down syndrome.
- Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.
- Platypnea-Orthodeoxia Syndrome (POS): A Retrospective Study of Percutaneous Closure of the Foramen Ovale in a Single Center.
- A patient with unexplained hypoxemia after a fall diagnosed with platypnea orthodeoxia syndrome: approaches to resolving discrepancies between level of hypoxemia and clinical presentation.
- Echocardiographic parameters in French Bulldogs, Pugs and Boston Terriers with brachycephalic obstructive airways syndrome.
- Takostubo syndrome combined with ventricular septal perforation: a case report.
- Post-cardiac injury syndrome triggered by radiofrequency ablation for AVNRT.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:86915(Orphanet)
- OMIM OMIM:601927(OMIM)
- MONDO:0011166(MONDO)
- GARD:284(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55783237(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
