Um distúrbio do tecido conjuntivo. O tecido conjuntivo fornece força e flexibilidade às estruturas de todo o corpo, como ossos, ligamentos, músculos, paredes dos vasos sanguíneos e válvulas cardíacas. A síndrome de Marfan afeta a maioria dos órgãos e tecidos, especialmente o esqueleto, os pulmões, os olhos, o coração e o grande vaso sanguíneo que distribui o sangue do coração para o resto do corpo (a aorta). É causada por mutações no gene FBN1, que fornece instruções para a produção de uma proteína chamada fibrilina-1. A síndrome de Marfan é herdada em um padrão autossômico dominante. Pelo menos 25% dos casos são devidos a uma mutação nova (de novo). O tratamento é baseado nos sinais e sintomas de cada pessoa.
Introdução
O que você precisa saber de cara
Um distúrbio do tecido conjuntivo. O tecido conjuntivo fornece força e flexibilidade às estruturas de todo o corpo, como ossos, ligamentos, músculos, paredes dos vasos sanguíneos e válvulas cardíacas. A síndrome de Marfan afeta a maioria dos órgãos e tecidos, especialmente o esqueleto, os pulmões, os olhos, o coração e o grande vaso sanguíneo que distribui o sangue do coração para o resto do corpo (a aorta). É causada por mutações no gene FBN1, que fornece instruções para a produção de uma proteína chamada fibrilina-1. A síndrome de Marfan é herdada em um padrão autossômico dominante. Pelo menos 25% dos casos são devidos a uma mutação nova (de novo). O tratamento é baseado nos sinais e sintomas de cada pessoa.
Tem tratamento?
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
+ 48 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 130 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:15062093, PubMed:1860873). Fibrillin-1-containing microfibrils provide long-term force bearing structural support (PubMed:27026396). In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin (PubMed:27026396). In
SecretedSecreted, extracellular space, extracellular matrix
Marfan syndrome
A hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life.
Medicamentos e terapias
Mecanismo: Angiotensin-converting enzyme inhibitor
Mecanismo: Renin inhibitor
Mecanismo: Type-1 angiotensin II receptor antagonist
Mecanismo: Beta-2 adrenergic receptor antagonist
Mecanismo: Beta-1 adrenergic receptor antagonist
Mecanismo: Type-1 angiotensin II receptor antagonist
Mecanismo: Matrix metalloproteinase-1 inhibitor
Mecanismo: Matrix metalloproteinase 7 inhibitor
Mecanismo: Type-1 angiotensin II receptor antagonist
Mecanismo: Beta-2 adrenergic receptor antagonist
Variantes genéticas (ClinVar)
4,741 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 7,305 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
7 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Marfan
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome Marfan
Centros para Síndrome Marfan
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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91 ensaios clínicos encontrados, 15 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 2.853
Marfan Before Marfan? Iconodiagnostic Analysis of a Possible Marfan Spectrum Phenotype in an Etruscan Sculpture.
Marfan syndrome is a heritable connective tissue disorder characterized by multisystem involvement, particularly affecting the skeleton. We performed an iconodiagnostic evaluation of the Etruscan bronze statue "L'Ombra della Sera" to assess whether its morphological features may reflect a real connective tissue phenotype rather than symbolic elongation. Systemic features were evaluated according to the revised Ghent nosology. The statue exhibits disproportionate longitudinal growth, thoracic deformities, craniofacial characteristics, and pedal findings consistent with a systemic connective tissue phenotype. Although limitations inherent to artistic representation must be considered, the overall morphological pattern is compatible with a MASS-Marfan spectrum phenotype. This study highlights the potential contribution of iconodiagnosis to the historical investigation of genetic disorders.
Downregulation of S100a8 mitigates fibrosis in skeletal muscles affected by Marfan syndrome.
This study investigated the potential of eccentric training in attenuating the deleterious effects of Marfan syndrome on skeletal muscles. Marfan syndrome and wild-type mice were divided into a trained and a control group; the former performed a downhill running protocol for 8 weeks. Morphological, molecular, and functional analyses were performed. Based on RNA sequencing analyses, the gastrocnemius and plantaris muscles were transfected with S100a8-shRNA (short hairpin RNA) and analyzed after 21 days. The muscle wet weight normalized to body weight and the percentage of myofibers with a higher cross-sectional area were lower in the muscles of Marfan syndrome mice than in wild-type mice. Marfan syndrome mice showed increased fibrosis and number of rounded myofibers, whereas eccentric training reduced these effects. Muscle-specific force was unaltered across groups. In addition, Marfan syndrome mice presented an increase in the number of CD11b+ myeloid cells and the mRNA levels of calcium-binding proteins S100a8 and S100a9 and cytokines Tnfa, Il6, and Il10 in muscles, while eccentric training reversed these effects. The knockdown of S100a8 induced by in vivo S100a8-shRNA transfection decreased muscle fibrosis in Marfan syndrome mice. In summary, eccentric training and knockdown of S100a8 are beneficial to reducing fibrosis in muscles affected by Marfan syndrome.
A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of life.
Children and adolescents with Marfan (MFS) and Loeys-Dietz (LDS) syndromes report chronic fatigue and reduced physical endurance, which significantly impact their health-related quality of life (HRQoL). We hypothesized that a tailored physical training program could improve these parameters. To test this hypothesis, we conducted an interventional, prospective, single-center clinical trial consisting of a 3-month observation period followed by a 6-month intervention period, during which a personalized home-based training program was implemented. The primary endpoint was the change in ventilatory anaerobic threshold (VAT) assessed during a maximal exercise test. Secondary outcomes were changes in 6-minute walk test (6MWT) distance and HRQoL parameters (assessed before and after intervention using the Pediatric Quality of Life Inventory, PedsQL™) and cardiac tolerance. A total of 28 children (25 with MFS and 3 with LDS) were enrolled, of whom 19 (68%) completed the study. At baseline, VAT and 6MWT distances were significantly impaired compared to the general population (p < 0.001 by one-sample t-test for both parameters), in particular in patient with a systemic score ≥ 7. During the program, there was an overall significant increase in VAT (p < 0.001 by ANOVA) and 6MWT distances (p = 0.02 by paired t-test). These improvements were accompanied by a significant enhancement in HRQoL parameters in the different dimensions assessed. No changes were observed in maximum heart rate, maximum systolic blood pressure and aortic sinus diameter. This 6-month personalized home-based exercise training program significantly improved aerobic physical capacity and HRQoL in children with MFS and LDS without affecting aortic sinus diameter. Despite the small number of patients included, which is a common challenge in studies conducted on children with rare diseases, these findings provide promising perspectives for the management of these patients. URL https://clinicaltrials.gov/; Unique identifier NCT03236571 date of registration 28/07/2017. The online version contains supplementary material available at 10.1186/s13023-026-04234-4.
Generation of an induced pluripotent stem cell line, JHUi006-A, from a Marfan Syndrome patient harboring a pathogenic c.5225-2A > C intronic splicing variant.
Marfan Syndrome, a heritable connective tissue disorder caused by mutations within the fibrillin-1 (FBN1) gene, can have deleterious effects on heart and aorta, eyes, the skeletal system and bone. FBN1 mutations that result in increased aortic vulnerability to rupture are associated with high mortality rates. Here, we describe an induced pluripotent stem cell line (JHUi006-A) generated from patient-derived human dermal fibroblasts harboring a heterozygous c.5225-2A > C intronic splice acceptor site variant preceding Exon 43 of FBN1 that results in exon skipping. The clonal line has a normal karyotype, expresses appropriate stemness markers, and maintains trilineage differentiation potential.
Pharmacotherapy Risks in Rare Genetic Diseases: Cross-Referencing ACMG Secondary Findings v3.2 List With Clinical Databases.
Clinical genomics and pharmacogenomics have largely remained separate fields, though some genetic variants have overlapping disease risk and drug implications. However, the extent of this overlap is not well studied. To explore this gap, we cross-referenced genes from the American College of Medical Genetics Secondary Findings v3.2 list with genomic databases and drug labeling to identify gene-phenotype pairs with overlapping clinical genomics and pharmacogenomic implications. We searched GeneReviews and PharmGKB (now called ClinPGx) for each gene-phenotype pair and reviewed the FDALabel database contraindications or warnings. Targeted therapies for specific germline/somatic variants were excluded. PGx-trained pharmacists and a genetic counselor classified gene-phenotype pairs into three levels: Level 1 (Food and Drug Administration's or guideline-driven recommendations), Level 2 (potential pharmacotherapy implication), and Level 3 (no/weak interactions). Among 97 gene-phenotype pairs reviewed, 22 (23%) were Level 1, 31 (32%) were Level 2, and 44 (45%) were Level 3. Pharmacotherapy implications included risks inferred by disease pathology (e.g., anticoagulants and hereditary hemorrhagic telangiectasia) and less obvious associations (e.g., Marfan syndrome and fluoroquinolones). Unrecognized medication implications may pose patient safety risks. Greater research, information consolidation and dissemination, and multidisciplinary collaboration among clinical genomics specialists, pharmacogenomic specialists, and other practitioners are essential as genetic testing becomes routine in clinical care.
Publicações recentes
[Pathomorphological features of various etiological forms of aortic aneurysm].
Loeys-Dietz Syndrome: 2026 updated care management primer.
First-Trimester Aortic Root Replacement in a Pregnant Woman with Previously Undiagnosed Marfan Syndrome.
Cataracta Pulverulenta in Marfan Syndrome: An Atypical Ocular Presentation: Case Report.
📚 EuropePMC3.498 artigos no totalmostrando 194
Aortic dissection during the perinatal period in women with Marfan-related disorders: a retrospective cohort study using the Japanese Diagnosis Procedure Combination database.
The journal of maternal-fetal & 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 ObstetriciansBentall Procedure: A Standard for Managing Large Aortic Root Aneurysm in Marfan Syndrome.
Clinical case reportsDirect Carotid Artery Exposure for Mechanical Thrombectomy in a Patient with Marfan Syndrome and Prior Total Arch Replacement.
NMC case report journalBeyond the tear: the enduring role of aortic pathology in the era of genomic medicine.
Open heartExtreme Late Presentation of Marfan Aortopathy: Clinical, Surgical, and Decision-Making Challenges.
JACC. Case reportsRefinement of Connective Tissue Disorder Diagnosis From Marfan to Loeys-Dietz Syndrome Type 4-End of a 30-Year Diagnostic Odyssey.
American journal of medical genetics. Part ASPP1high fibrogenic macrophages mediate protective fibrotic remodeling and promote vascular stability in hypertension-associated aortic dissection.
BMC medicineA Second Look: Re-analysis of the PHN Marfan Trial Data to Assess the Effects of Losartan and Atenolol on Disease Progression Using Aortic Cross-sectional Area/height.
Journal of the American Society of Echocardiography : official publication of the American Society of EchocardiographyNovel Generation-Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling.
Case reports in geneticsGenotype-Guided Risk Stratification of Mitral Valve Surgery in Marfan Syndrome.
Journal of the American College of CardiologyPeripheral arterial lesions detected by vascular ultrasound and their association with aortic events in heritable thoracic aortic diseases.
International journal of cardiology. Heart & vasculatureCardiovascular Events in Patients with Marfan Syndrome.
The Annals of thoracic surgeryPINCH proteins orchestrate vascular mural cell homeostasis through integrated signaling and transcriptional networks.
AngiogenesisTwo Cases of Successful Kidney Transplantation From a 39-Year-Old Male Deceased Donor With Marfan Syndrome: A Case Series.
The American journal of case reportsMarfan Before Marfan? Iconodiagnostic Analysis of a Possible Marfan Spectrum Phenotype in an Etruscan Sculpture.
Clinical geneticsImpact of 18F-FDG-PET/CT in Managing a Case of Fungal Prosthetic Valve Endocarditis.
Molecular imaging and radionuclide therapyA case report by scientist parents of a paediatric patient diagnosed with Marfan syndrome at 24 weeks of pregnancy.
Cardiology in the youngAlterations in ascending aortic hemodynamics and aortic length correlate with sex-specific thoracic aortic aneurysm dilation and lifespan in a mouse model of severe Marfan syndrome.
Computers in biology and medicineMyocardial crypts in FBN1-positive Marfan syndrome.
Revista espanola de cardiologia (English ed.)The Current State of Endovascular Aortic Repair in Heritable Thoracic Aortic Disease.
Annals of vascular surgeryEndovascular Salvage After False Lumen Misdeployment of Thoracic Endovascular Aortic Repair or the Frozen Elephant Trunk in Aortic Dissection: A Case Report of Two Patients.
Vascular specialist internationalSevere elastic fiber fragmentation/loss is correlated with Marfan syndrome in patients with an ascending aortic aneurysm.
Vascular diseases (Paris, France)Arteriopathies: Too big to be true.
Annals of pediatric cardiologyTikTok as a Platform for Patient Education and Health Information in Rare Genetic Diseases: Cross-Sectional Study.
JMIR formative researchDownregulation of S100a8 mitigates fibrosis in skeletal muscles affected by Marfan syndrome.
Molecular therapy. Nucleic acidsStanford Type B Aortic Dissection in a Twin Pregnancy With Marfan Syndrome: A Rare Obstetric Emergency-A Case Report.
Case reports in obstetrics and gynecologyDivergent Paths: A Survey of Cardiologist and Obstetrician Decision-Making in High-Risk Pregnancies with Cardiovascular Disease.
International journal of women's healthAdvances in Marfan syndrome care: the limits of type B dissection.
The Annals of thoracic surgeryCase Report: Challenges in the surgical treatment of Marfan-associated aortic aneurysms: a literature review starting from a clinical case.
Frontiers in surgeryGenetic testing in thoracic aortic disease: diagnostic performance of the 2024 ESC algorithm.
European heart journalTelomere length in patients with Marfan Syndrome.
International journal of cardiologyManagement strategies for acute type A aortic dissection during pregnancy: a single-center retrospective experience.
BMC pregnancy and childbirthSecondary Thoracoabdominal Aortic Replacement Following Total Arch Repair With a Sutureless Integrated Stented Graft in Marfan Syndrome: A Case Report.
The American journal of case reportsEarly onset scoliosis in syndromic and neuromuscular disorders: A multidisciplinary approach.
Journal of clinical orthopaedics and traumaImpact of β-Blockers on the Risk of Low-Birth-Weight Infants in Women with Long QT Syndrome or Marfan Syndrome: A Single-Center Retrospective Study from 2008 to 2022 in a Tertiary Care Center.
Paediatric drugsContemporary Outcomes of Thoracic Endovascular Aortic Repair in Patients with Syndromic Genetic Aortopathy: A Multi-Centre National Study.
Annals of vascular surgeryRefractive Growth in Marfan Syndrome Patients with Ectopia Lentis After Intraocular Lens Implantation.
Journal of cataract and refractive surgeryA personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of life.
Orphanet journal of rare diseasesDiagnosis and management of heritable thoracic aortic diseases.
Heart (British Cardiac Society)Generation of an induced pluripotent stem cell line, JHUi006-A, from a Marfan Syndrome patient harboring a pathogenic c.5225-2A > C intronic splicing variant.
Stem cell researchWhat's new about angiotensin receptor blocker (ARB) therapy for Marfan syndrome: A narrative review.
Vascular medicine (London, England)Development of a zebrafish model of Loeys-Dietz syndrome through tgfbr2b knockdown.
Journal of human geneticsDiastolic Function and Left Atrial Mechanics in Children With Marfan and Loeys-Dietz Syndrome.
CJC pediatric and congenital heart diseaseMarfan Syndrome-Comprehensive Dental/Surgical Management: Clinical Case Report.
International journal of clinical pediatric dentistryTranscatheter closure of paravalvular leak after Bentall surgery in a Marfan patient: a rare case report.
Frontiers in cardiovascular medicineThoracic Endovascular Aortic Repair for Type B Aortic Dissections in Patients With Marfan Syndrome.
JACC. Case reportsGiant left ventricular pseudoaneurysm after ventricular assist device explantation in Marfan syndrome.
European heart journalPain Hypersensitivity in a Mouse Model of Marfan Syndrome.
Antioxidants (Basel, Switzerland)[Comparison of outcomes between emergency surgery and conservative treatment for acute type A aortic intramural hematoma].
Zhonghua yi xue za zhiManagement of type 2 endoleaks following endovascular thoracic aortic dissection repair associated with patent ductus arteriosus: A report of two cases in patients with Marfan syndrome.
Journal of vascular surgery cases and innovative techniquesBronchomalacia Complication Following a Bentall Procedure in a Patient With Marfan Syndrome.
CureusPeople With Marfan Syndrome Utilize an Ankle Dominant Strategy to Perform the Sit-to-Stand Task.
Journal of applied biomechanicsComparison of the Cionni ring and Yamane techniques for intraocular lens implantation in pediatric Marfan syndrome patients with lens subluxation.
BMC ophthalmologyOsteoporosis in Patients With Marfan Syndrome: A Narrative Review of Bone Health and Management.
CureusFGF12 induces aberrant mechanosignaling in aortic smooth muscle cells during thoracic aortic aneurysm formation in Marfan syndrome mice.
Experimental & molecular medicineDegradation of Elastic Fiber Triggers Lacrimal Gland Dysfunction in Marfan Syndrome Mice.
Investigative ophthalmology & visual sciencePharmacotherapy Risks in Rare Genetic Diseases: Cross-Referencing ACMG Secondary Findings v3.2 List With Clinical Databases.
Clinical and translational scienceSutureless Intrascleral One-piece Intraocular Lens Fixation for Ectopia Lentis in Marfan Syndrome.
Journal of refractive surgery (Thorofare, N.J. : 1995)Type A aortic dissection during pregnancy and postpartum: Experience in 60 patients over 25 years.
The Journal of thoracic and cardiovascular surgeryAnaesthetic Management of a Patient with Marfan Syndrome Undergoing Elective Ventral Hernia Repair.
Healthcare (Basel, Switzerland)Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.
Diagnostics (Basel, Switzerland)Robotic navigation assistance for spinal fixation in Marfan syndrome: a case report addressing anatomical challenges.
Journal of spine surgery (Hong Kong)Characterisation of Type-1 Fibrillinopathies in a Sri Lankan Cohort: Genotype-Phenotype Correlations and Novel FBN1 Variants.
Molecular syndromologySurgical approach to ocular complications of Marfan syndrome.
Current opinion in ophthalmologyOnline 1-session Empowered Relief in Marfan syndrome and related diseases: a single-arm feasibility and pilot efficacy study.
Scientific reportsPulmonary Vascular Abnormalities and Spontaneous Pneumothorax in Loeys-Dietz Syndrome.
Pathology internationalMarfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity.
American journal of medical genetics. Part AMaternal and neonatal outcomes in Marfan syndrome: a nationwide registry.
Heart (British Cardiac Society)A 4-Decade Population-Based Registry of Thoracic Aortic Dissection Causing Sudden Death in the Young.
JACC. AdvancesDistal anastomotic new-entry tear after type A aortic dissection repair: Incidence patterns and long-term outcomes by extent of aortic replacement.
JTCVS openA de novo variant of the COL3A1 gene: causality of vascular Ehlers-Danlos syndrome.
Advances in laboratory medicineGiant coronary button aneurysms two decades after Bentall procedure in Marfan syndrome: A CT perspective.
Journal of cardiovascular computed tomographyShould We Replace the Non-Aneurysmal Aortic Arch During Elective Valve-Sparing Aortic Root Replacement in Marfan Patients?
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic SurgerySuccessful creation of an arteriovenous fistula and pathological evaluation of the radial artery in an end-stage kidney disease patient with Marfan syndrome: a case report.
CEN case reportsCorrigendum to "Tissue material properties, whole-bone morphology and mechanical behavior in the Fbn1 C1041G/+ mouse model of Marfan Syndrome" [Matrix Biol. Plus 23 (2024) 100155].
Matrix biology plusSpontaneously resolved pseudoaneurysm after valve-sparing aortic root replacement in Marfan syndrome: a case report.
Cardiology in the youngArytenoid dislocation in a patient with Marfan syndrome after undergoing aortic arch surgery.
BMJ case reportsPERADIGM: Phenotype embedding similarity-based rare disease gene mapping.
PLoS geneticsConcomitant Aortic Root Replacement in Total Arch Replacement With Frozen Elephant Trunk for Type A Aortic Dissection: A Propensity-Weighted Analysis.
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic SurgeryMyeloperoxidase aggravates thoracic aortic aneurysm formation in Marfan disease.
Cardiovascular researchType B Aortic Dissection in Patients Aged 30 Years or Younger: A Retrospective Multicentre Study.
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic SurgeryPectus Excavatum-A Frequent but Often Neglected Entity in Sports Cardiology.
Diagnostics (Basel, Switzerland)Predicting Actual Lens Position to Generate a Novel Intraocular Lens Power Calculation Formula for Marfan Syndrome.
Journal of refractive surgery (Thorofare, N.J. : 1995)Underlying Aortopathies in Pregnancy: Early Detection, Management, and Advanced Planning.
Cardiology in reviewZonular compromise: A narrative review of indicators and management strategies.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyComplex mitral valve repair in a patient with surgically corrected pectus excavatum: a case report.
Journal of cardiothoracic surgeryModified Nuss procedure versus Ravitch in concurrent repair of pectus deformity and open-heart surgery.
Asian cardiovascular & thoracic annalsOutcomes of Four-Point Sutured Scleral-Fixated Intraocular Lens Implantation Using Gore-Tex Suture in Paediatric Eyes.
Clinical & experimental ophthalmologyStructural and functional consequences of aspartate/asparagine-β-hydroxylase variants causing Traboulsi syndrome.
The Journal of biological chemistryAortic root replacement versus preservation in acute type A aortic dissection repair: meta-analysis of reconstructed time-to-event data.
Journal of cardiothoracic surgeryLobar torsion following open surgical repair for type B aortic dissection in a patient with Marfan syndrome.
Journal of cardiothoracic surgerySurgical and Anesthesia-Related Concerns forRobot-Assisted Pediatric Cardiac Surgery.
Journal of cardiothoracic and vascular anesthesiaComplex Dissected Subclavian Artery Aneurysm Repair for a Patient With Marfan Syndrome.
JACC. Case reportsWhat Underlies the Therapeutic Effect of Angiotensin Receptor Blockade in Marfan Syndrome-Related Aortopathy?
Arteriosclerosis, thrombosis, and vascular biologyMultidisciplinary management of acute type A aortic dissection in a pregnant woman with Marfan syndrome.
Kardiochirurgia i torakochirurgia polska = Polish journal of cardio-thoracic surgeryFrom Spine to Syndrome: Incidental Spine MRI Red Flags Leading to PMEPA1-Related Loeys-Dietz Syndrome.
Internal medicine (Tokyo, Japan)Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study.
Journal of translational medicineRole of Angiotensin Receptor Blockers on Cardiovascular Protection in Marfan Syndrome: A Literature Review.
Health science reportsHybrid prosthesis in frozen elephant trunk procedures for hereditary thoracic aortic diseases: a 14-year single-aortic center experience.
Journal of cardiothoracic surgeryGenotype-aortic phenotype correlations in Marfan syndrome: a systematic review and meta-analysis of Fibrillin-1 variants.
Heart (British Cardiac Society)Beyond the Heart: Marfan Syndrome From the Cardiologist's Perspective.
Cardiology in reviewSurgical Outcomes of Lens Removal with or Without Intraocular Lens Implantation in Marfan Syndrome: A Retrospective Cohort Study.
Clinical ophthalmology (Auckland, N.Z.)Mid- and long-term evaluation of an alternative to the Liu' modified Bentall procedure for aortic root aneurysm.
Frontiers in cardiovascular medicineGenotype-first assessment of presentation and penetrance of neurofibromatosis type 1, autosomal dominant polycystic kidney disease, and Marfan syndrome within the All of Us research program cohort.
Genetics in medicine : official journal of the American College of Medical GeneticsTranscription regulation by TBX18 in smooth muscle cells is essential for normal aortic development and homeostasis.
Cardiovascular researchA diagnostic RNA sequencing assay for direct identification and interpretation of pathogenic variants in the FBN1 gene.
Frontiers in molecular biosciences[Marfan Syndrome After Undergoing Genetic Testing Related to the Aorta, Following a Staged Total Aortic Replacement].
Kyobu geka. The Japanese journal of thoracic surgeryPediatric Marfan Syndrome and Heart Transplantation: Insights From the PHIS Database.
Pediatric transplantationMultimodality Imaging for Thoracic Aortic Aneurysms.
Cardiology clinicsGene editing for inherited cardiac conditions: A new frontier in cardiology.
Trends in cardiovascular medicineHigh-fat diet does not exacerbate aortic pathology and enhances metabolic function in Marfan syndrome Fbn1C1041G/+ mice.
Biochimica et biophysica acta. Molecular basis of diseaseInverse Agonist Activity of Angiotensin II Receptor Blocker Is Crucial for Prevention of Progressive Aortic Dilatation in Marfan Syndrome.
Arteriosclerosis, thrombosis, and vascular biologySafety of Electroconvulsive Therapy in a Patient With Marfan Syndrome With Associated Cardiac Complications.
The journal of ECTRuptured Internal Mammary Artery Aneurysm in Marfan Syndrome With Hemothorax: Concomitant Aneurysmal Involvement of Multiple Medium-Sized Arteries.
The Canadian journal of cardiologyGrowth Trajectories in Ascending Thoracic Aortic Dilation: Classification and Implications for the Effectiveness of Real-World Imaging Surveillance.
Journal of the American Heart AssociationElucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations.
Haemophilia : the official journal of the World Federation of HemophiliaThree-dimensional distensibility of the aorta derived from four-dimensional cardiovascular magnetic resonance in young and middle-aged adults with Marfan syndrome.
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic ResonancePerioperative Care of a Pediatric Patient With Beals Syndrome.
Journal of medical casesVentricular dispersion and repolarization in Marfan syndrome: A clinical analysis.
Heart rhythm O2Combined Pipeline Embolization and Coiling of an Intracranial Aneurysm in Marfan Syndrome: A Case Report and Literature Review.
Neurosurgery practiceExercise Recommendations for Patients with Marfan Syndrome: An updated review.
European journal of preventive cardiologyBiallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome.
Human genome variationThink classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria.
Molecular genetics and metabolism reportsMitral Valve Aneurysm With Perforation Resulting in Severe Mitral Regurgitation Secondary to Infective Endocarditis: A Report of a Rare Case.
CureusA de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse.
Scientific reportsBentall-De Bono Procedure as a Treatment for Stanford Type A Chronic Aortic Dissection.
CureusSix at Sixty. The revised Ghent nosology for Marfan syndrome turns 15 - what we have gained, what we have missed.
Journal of medical geneticsOpen thoracoabdominal surgery after frozen elephant trunk.
Annals of cardiothoracic surgeryThe Chinese experience with frozen elephant trunk: contemporary institutional outcomes of the Sun procedure.
Annals of cardiothoracic surgerySevere Necrotizing Anterior Scleritis in Marfan Syndrome: A Case of Scleromalacia Perforans.
Clinical case reportsBeyond the usual spectrum: Atrial septal defect in a Marfan syndrome patient with severe aortic pathologies.
Journal of family medicine and primary careRecurrent Cavus Foot in an Adolescent With Marfan Syndrome: A Case Report.
CureusRheumatic and musculoskeletal disorders in musicians: risks, adaptations and management.
RMD openSuperficial siderosis in Marfan syndrome.
Practical neurologyMarfan Europe Network: Together we can!
FEBS lettersDelayed rebound intracranial hypertension following treatment for a spontaneous CSF leak in a patient with Marfan syndrome.
Acta neurologica BelgicaUnbiased Heterojunction Design for Aqueous Humor Metabolic Monitoring of Cardiovascular Complications in Marfan Syndrome.
Small methodsPregnant Patient With Infrarenal Abdominal Aortic Aneurysm Successfully Treated With EVAR.
JACC. Case reportsA Marfan-Associated FBN1 Nonsense Mutation Mouse Model Reveals Adventitial Inflammation During Aneurysm Progression.
bioRxiv : the preprint server for biologySudden death due to aortic dissection: autopsy study (2011-2023).
Journal of forensic and legal medicineCongenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders.
GenesLong-Term Outcomes of Prenatally Diagnosed Fetal Hemivertebra: A 15-Year Single-Center Review.
Children (Basel, Switzerland)Mitral Valve Replacement via Right Thoracotomy in a Patient With Marfan Syndrome and Severe Scoliosis After a Prior Bentall Procedure.
CureusPostoperative Acute Refractory Hypoxemia After Acute Type A Aortic Dissection Surgery: Supporting the Two-Hit Mechanism of Transfusion-Related Acute Lung Injury. A Retrospective Cohort Study.
Vascular health and risk managementPathologies of the cervical spine in skeletal syndromes and dysplasias.
Orthopaedics & traumatology, surgery & research : OTSRA pictorial essay of thoracic wall diseases: multiple pathologies in the same anatomical site.
Insights into imagingMitochondrial DNA mutations as a potential modifier for the clinical variability of Marfan syndrome.
QJM : monthly journal of the Association of PhysiciansIntraoperative Neurophysiological Monitoring in Patients With Marfan Syndrome Scoliosis.
Orthopaedic surgeryPersonalized External Aortic Root Support (PEARS) in the Treatment of Marfan Syndrome and Bicuspid Aortic Valve Aneurysms: First Case Series in the American Continent.
Brazilian journal of cardiovascular surgeryEstablishment of a Stacking Machine Learning Model Predicting Cardiac Phenotype in Ectopia Lentis Patients Based on Genotype and Ocular Phenotype.
International journal of medical sciencesStudy on the remodeling of distal residual dissection after surgery in patients with type A aortic dissection and Marfan syndrome.
JTCVS openMitral annular disjunction distance is associated with adverse outcomes in children and young adults with connective tissue disorders.
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic ResonanceComputed tomography angiography diagnosis of Marfan syndrome complicated with fulminant myocarditis under extracorporeal membrane oxygenation support: a case report.
European heart journal. Case reportsTherapeutic Opportunities of Marfan Syndrome: Current Perspectives.
Drug design, development and therapyCombined David procedure and mitral valve repair in Marfan syndrome with mitral annular disjunction.
Multimedia manual of cardiothoracic surgery : MMCTSApoptosis and Brain Dervived Neurotrophic Factor are increased in cortical neurons of Marfan Syndrome mice.
microPublication biologyPsychosocial aspects, chronic pain, fatigue and quality of life in individuals with Stickler syndrome: a scoping review and a cross-sectional questionnaire study.
Disability and rehabilitationBiomechanics of the Aortic Root and Ascending Aorta in Patients With Marfan Syndrome.
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic SurgeryAssociation between Mitral Valve Pathology and Ventricular Ectopy in the Pediatric Marfan Population.
Pediatric cardiologyPhenotyping Fatigue Profiles in Marfan Syndrome Through Cluster Analysis: A Cross-Sectional Study of Psychosocial and Clinical Correlates.
Journal of clinical medicineIndications and Outcomes of Select Vitreoretinal Surgery in Patients With Marfan Syndrome.
Journal of vitreoretinal diseasesPerivascular inflammation in the progression of aortic aneurysms in Marfan syndrome.
JCI insightExploring patient experiences of pain fatigue and physical activity in syndromic heritable thoracic aortic disease using mixed methods.
Scientific reportsUndiagnosed Marfan's Syndrome Presenting with Primary Spontaneous Pneumothorax in a Young, Short, Nonsmoker Adult at Emergency.
The Journal of the Association of Physicians of IndiaSkeletal muscle alterations in Marfan syndrome: a systematic review.
Journal of muscle research and cell motilityMitral Annular Disjunction in Marfan Syndrome: A Multicenter Cardiovascular Magnetic Resonance Study.
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic ResonanceOutcomes of fenestrated-branched endovascular aortic repair of thoracoabdominal aortic aneurysms in patients with heritable thoracic aortic diseases.
JTCVS techniquesHybrid transcatheter aortic valve replacement for mechanical valve dysfunction in a patient with Marfan syndrome and previous Bentall procedure: A novel approach.
JTCVS techniquesPREVALENCE, RISK FACTORS, AND OUTCOMES OF RHEGMATOGENOUS RETINAL DETACHMENTS REPAIR IN MARFAN SYNDROME.
Retina (Philadelphia, Pa.)Elastosis Perforans Serpiginosa Is Not a Cutaneous Manifestation of Marfan Syndrome.
CureusTotal aortic arch replacement with frozen elephant trunk in patients with Marfan syndrome.
Annals of cardiothoracic surgeryAortic Valve-Sparing Root Operation in Patients With Marfan and Loeys-Dietz Syndrome.
The Annals of thoracic surgeryPhenotypic Diversity of Marfan Syndrome.
JACC. AdvancesPersonalized external aortic root support: The Dutch experience.
The Journal of thoracic and cardiovascular surgeryBilateral lens subluxation in a child with Marfan syndrome.
Journal of cataract and refractive surgeryBentall procedure with a continuous suture technique.
Multimedia manual of cardiothoracic surgery : MMCTSA case of innominate artery aneurysm in a pregnant woman treated by endovascular stent grafting.
Nagoya journal of medical scienceAnchor-assisted capsular bag IOL implantation to correct subluxated lenses in children with Marfan syndrome: long-term follow-up.
Journal of cataract and refractive surgeryGiant Intrabdominal Meningocele in a Patient with Marfan Syndrome: Case Description and Surgical Management.
NeurocirugiaGenetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.
GenesExcessive glycosylation drives thoracic aortic aneurysm formation through integrated stress response.
European heart journalCartilage Oligomeric Matrix Protein, a Potential Biomarker for Thoracic Aortic Dissection.
JACC. Basic to translational scienceDiverticulitis: A Review.
JAMAStatistical considerations for predicting outcomes in patients with Marfan syndrome.
The Journal of thoracic and cardiovascular surgeryA Multidisciplinary Aortopathy Clinic: The McGill Experience.
CJC openExploring thoracic aorta ECM alterations in Marfan syndrome: insights into aorta wall structure.
Scientific reportsThe Reduction of COMP Serves as a Predictor for Warning of Aortic Dissection Progression.
JACC. Basic to translational scienceMinimum Core Data Elements for Evaluation of Thoracic Aortic Disease.
JACC. AdvancesCombined genome and transcriptome analysis identifies molecular signatures of aortic disease in patients with Marfan syndrome.
Journal of molecular and cellular cardiology plusCase Report: FBN1 mutation screening in South African patients with Marfan syndrome.
Frontiers in geneticsLarge dissecting sinus of Valsalva aneurysm creating a 'triple ventricle' appearance: case report.
European heart journal. Case reportsGrowth Arrest of Thoracic Aortic Aneurysms in Aging Marfan Mice.
bioRxiv : the preprint server for biologyTraboulsi syndrome involving aortopathy: further evidence of the phenotypic overlap with Marfan syndrome.
Clinical dysmorphologyLoss of function variants in ADAMTS6 : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS).
medRxiv : the preprint server for health sciencesAssociações
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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.
- Marfan Before Marfan? Iconodiagnostic Analysis of a Possible Marfan Spectrum Phenotype in an Etruscan Sculpture.
- Downregulation of S100a8 mitigates fibrosis in skeletal muscles affected by Marfan syndrome.
- A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of life.
- Generation of an induced pluripotent stem cell line, JHUi006-A, from a Marfan Syndrome patient harboring a pathogenic c.5225-2A > C intronic splicing variant.
- Pharmacotherapy Risks in Rare Genetic Diseases: Cross-Referencing ACMG Secondary Findings v3.2 List With Clinical Databases.
- [Pathomorphological features of various etiological forms of aortic aneurysm].
- Loeys-Dietz Syndrome: 2026 updated care management primer.
- First-Trimester Aortic Root Replacement in a Pregnant Woman with Previously Undiagnosed Marfan Syndrome.
- Editorial: Advances in molecular genetics of Marfan syndrome and related disorders.
- Cataracta Pulverulenta in Marfan Syndrome: An Atypical Ocular Presentation: Case Report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:558(Orphanet)
- OMIM OMIM:154700(OMIM)
- MONDO:0007947(MONDO)
- GARD:16535(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q208562(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
