Raras
Buscar doenças, sintomas, genes...
Síndrome Marfan
ORPHA:558CID-10 · Q87.4CID-11 · LD28.01OMIM 154700DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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.

Pesquisas ativas
15 ensaios
91 total registrados no ClinicalTrials.gov
Publicações científicas
5.984 artigos
Último publicado: 2026
Medicamentos
10 registrados
PERINDOPRIL, ALISKIREN, LOSARTAN

Tem tratamento?

10 medicamentos registrados
Ver detalhes, fases e interações →
PERINDOPRILALISKIRENLOSARTANNEBIVOLOLATENOLOLLOSARTAN POTASSIUMDOXYCYCLINEDOXYCYCLINE ANHYDROUSIRBESARTANPROPRANOLOL

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
15.0
Worldwide
Início
All ages
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PR, SC, RS, ES +10CID-10: Q87.4
🇧🇷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
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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
20 sintomas
❤️
Coração
19 sintomas
😀
Face
13 sintomas
👁️
Olhos
9 sintomas
💪
Músculos
5 sintomas
🫁
Pulmão
4 sintomas

+ 48 sintomas em outras categorias

Características mais comuns

90%prev.
Aneurisma da aorta
Muito frequente (99-80%)
90%prev.
Fadiga crônica
Muito frequente (99-80%)
90%prev.
Pneumotórax espontâneo
Muito frequente (99-80%)
90%prev.
Constituição esguia
Muito frequente (99-80%)
80%prev.
Ectasia dural
Frequente (79-30%)
78%prev.
Aneurisma da raiz da aorta
Muito frequente (99-80%)
130sintomas
Muito frequente (5)
Frequente (36)
Ocasional (45)
Muito raro (7)
Sem dados (37)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 130 características clínicas mais associadas, ordenadas por frequência.

Aneurisma da aortaAortic aneurysm
Muito frequente (99-80%)90%
Fadiga crônicaChronic fatigue
Muito frequente (99-80%)90%
Pneumotórax espontâneoSpontaneous pneumothorax
Muito frequente (99-80%)90%
Constituição esguiaSlender build
Muito frequente (99-80%)90%
Ectasia duralDural ectasia
Frequente (79-30%)80%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico5.984PubMed
Últimos 10 anos200publicações
Pico2025119 papers
Linha do tempo
2026Hoje · 2026🧪 1997Primeiro ensaio clínico📈 2025Ano 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

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

FBN1Fibrillin-1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

SecretedSecreted, extracellular space, extracellular matrix

VIAS BIOLÓGICAS (2)
Post-translational protein phosphorylationRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
295.9 TPM
Artéria coronária
63.8 TPM
Aorta
63.1 TPM
Tecido adiposo
54.3 TPM
Esôfago - Junção
48.0 TPM
OUTRAS DOENÇAS (14)
geleophysic dysplasia 2Weill-Marchesani syndrome 2, dominantMASS syndromeectopia lentis 1, isolated, autosomal dominant
HGNC:3603UniProt:P35555

Medicamentos e terapias

PERINDOPRILPhase 3

Mecanismo: Angiotensin-converting enzyme inhibitor

ALISKIRENPhase 3

Mecanismo: Renin inhibitor

LOSARTANPhase 3

Mecanismo: Type-1 angiotensin II receptor antagonist

NEBIVOLOLPhase 3

Mecanismo: Beta-2 adrenergic receptor antagonist

ATENOLOLPhase 3

Mecanismo: Beta-1 adrenergic receptor antagonist

LOSARTAN POTASSIUMPhase 3

Mecanismo: Type-1 angiotensin II receptor antagonist

DOXYCYCLINEPhase 2

Mecanismo: Matrix metalloproteinase-1 inhibitor

DOXYCYCLINE ANHYDROUSPhase 2

Mecanismo: Matrix metalloproteinase 7 inhibitor

IRBESARTANPhase 2

Mecanismo: Type-1 angiotensin II receptor antagonist

PROPRANOLOLPhase 2

Mecanismo: Beta-2 adrenergic receptor antagonist

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

4,741 variantes patogênicas registradas no ClinVar.

🧬 FBN1: NM_000138.5(FBN1):c.4210+1G>C ()
🧬 FBN1: NM_000138.5(FBN1):c.1147+5G>A ()
🧬 FBN1: NM_000138.5(FBN1):c.6629_6639del (p.Cys2210fs) ()
🧬 FBN1: NM_000138.5(FBN1):c.7828G>T (p.Glu2610Ter) ()
🧬 FBN1: NM_000138.5(FBN1):c.3713A>C (p.Asp1238Ala) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 7,305 variantes classificadas pelo ClinVar.

2192
1826
3287
Patogênica (30.0%)
VUS (25.0%)
Benigna (45.0%)
VARIANTES MAIS SIGNIFICATIVAS
FBN1: NM_000138.5(FBN1):c.6629_6639del (p.Cys2210fs) [Pathogenic]
FBN1: NM_000138.5(FBN1):c.7828G>T (p.Glu2610Ter) [Likely pathogenic]
FBN1: NM_000138.5(FBN1):c.1599G>C (p.Glu533Asp) [Likely pathogenic]
FBN1: NM_000138.5(FBN1):c.3590-1G>A [Likely pathogenic]
FBN1: NM_000138.5(FBN1):c.7699+5G>T [Pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 36
2Fase 24
·Pré-clínico20
Medicamentos catalogadosEnsaios clínicos· 10 medicamentos · 20 ensaios
Carregando informações de tratamento...

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

🟢 Recrutando agora

9 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

91 ensaios clínicos encontrados, 15 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
2.853 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 2.853

#1

Marfan Before Marfan? Iconodiagnostic Analysis of a Possible Marfan Spectrum Phenotype in an Etruscan Sculpture.

Clinical genetics2026 Mar 06

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.

#2

Downregulation of S100a8 mitigates fibrosis in skeletal muscles affected by Marfan syndrome.

Molecular therapy. Nucleic acids2026 Mar 12

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.

#3

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.

Orphanet journal of rare diseases2026 Feb 04

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.

#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.

Stem cell research2026 Mar

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.

#5

Pharmacotherapy Risks in Rare Genetic Diseases: Cross-Referencing ACMG Secondary Findings v3.2 List With Clinical Databases.

Clinical and translational science2026 Jan

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

Ver todas no PubMed

📚 EuropePMC3.498 artigos no totalmostrando 194

2026

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 &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
2025

Bentall Procedure: A Standard for Managing Large Aortic Root Aneurysm in Marfan Syndrome.

Clinical case reports
2026

Direct Carotid Artery Exposure for Mechanical Thrombectomy in a Patient with Marfan Syndrome and Prior Total Arch Replacement.

NMC case report journal
2026

Beyond the tear: the enduring role of aortic pathology in the era of genomic medicine.

Open heart
2026

Extreme Late Presentation of Marfan Aortopathy: Clinical, Surgical, and Decision-Making Challenges.

JACC. Case reports
2026

Refinement 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 A
2026

SPP1high fibrogenic macrophages mediate protective fibrotic remodeling and promote vascular stability in hypertension-associated aortic dissection.

BMC medicine
2026

A 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 Echocardiography
2026

Novel Generation-Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling.

Case reports in genetics
2026

Genotype-Guided Risk Stratification of Mitral Valve Surgery in Marfan Syndrome.

Journal of the American College of Cardiology
2026

Peripheral arterial lesions detected by vascular ultrasound and their association with aortic events in heritable thoracic aortic diseases.

International journal of cardiology. Heart &amp; vasculature
2026

Cardiovascular Events in Patients with Marfan Syndrome.

The Annals of thoracic surgery
2026

PINCH proteins orchestrate vascular mural cell homeostasis through integrated signaling and transcriptional networks.

Angiogenesis
2026

Two Cases of Successful Kidney Transplantation From a 39-Year-Old Male Deceased Donor With Marfan Syndrome: A Case Series.

The American journal of case reports
2026

Marfan Before Marfan? Iconodiagnostic Analysis of a Possible Marfan Spectrum Phenotype in an Etruscan Sculpture.

Clinical genetics
2026

Impact of 18F-FDG-PET/CT in Managing a Case of Fungal Prosthetic Valve Endocarditis.

Molecular imaging and radionuclide therapy
2026

A case report by scientist parents of a paediatric patient diagnosed with Marfan syndrome at 24 weeks of pregnancy.

Cardiology in the young
2026

Alterations 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 medicine
2026

Myocardial crypts in FBN1-positive Marfan syndrome.

Revista espanola de cardiologia (English ed.)
2026

The Current State of Endovascular Aortic Repair in Heritable Thoracic Aortic Disease.

Annals of vascular surgery
2026

Endovascular 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 international
2026

Severe elastic fiber fragmentation/loss is correlated with Marfan syndrome in patients with an ascending aortic aneurysm.

Vascular diseases (Paris, France)
2025

Arteriopathies: Too big to be true.

Annals of pediatric cardiology
2026

TikTok as a Platform for Patient Education and Health Information in Rare Genetic Diseases: Cross-Sectional Study.

JMIR formative research
2026

Downregulation of S100a8 mitigates fibrosis in skeletal muscles affected by Marfan syndrome.

Molecular therapy. Nucleic acids
2026

Stanford Type B Aortic Dissection in a Twin Pregnancy With Marfan Syndrome: A Rare Obstetric Emergency-A Case Report.

Case reports in obstetrics and gynecology
2026

Divergent Paths: A Survey of Cardiologist and Obstetrician Decision-Making in High-Risk Pregnancies with Cardiovascular Disease.

International journal of women's health
2026

Advances in Marfan syndrome care: the limits of type B dissection.

The Annals of thoracic surgery
2025

Case Report: Challenges in the surgical treatment of Marfan-associated aortic aneurysms: a literature review starting from a clinical case.

Frontiers in surgery
2026

Genetic testing in thoracic aortic disease: diagnostic performance of the 2024 ESC algorithm.

European heart journal
2026

Telomere length in patients with Marfan Syndrome.

International journal of cardiology
2026

Management strategies for acute type A aortic dissection during pregnancy: a single-center retrospective experience.

BMC pregnancy and childbirth
2026

Secondary Thoracoabdominal Aortic Replacement Following Total Arch Repair With a Sutureless Integrated Stented Graft in Marfan Syndrome: A Case Report.

The American journal of case reports
2026

Early onset scoliosis in syndromic and neuromuscular disorders: A multidisciplinary approach.

Journal of clinical orthopaedics and trauma
2026

Impact 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 drugs
2026

Contemporary Outcomes of Thoracic Endovascular Aortic Repair in Patients with Syndromic Genetic Aortopathy: A Multi-Centre National Study.

Annals of vascular surgery
2026

Refractive Growth in Marfan Syndrome Patients with Ectopia Lentis After Intraocular Lens Implantation.

Journal of cataract and refractive surgery
2026

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.

Orphanet journal of rare diseases
2026

Diagnosis and management of heritable thoracic aortic diseases.

Heart (British Cardiac Society)
2026

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 research
2026

What's new about angiotensin receptor blocker (ARB) therapy for Marfan syndrome: A narrative review.

Vascular medicine (London, England)
2026

Development of a zebrafish model of Loeys-Dietz syndrome through tgfbr2b knockdown.

Journal of human genetics
2025

Diastolic Function and Left Atrial Mechanics in Children With Marfan and Loeys-Dietz Syndrome.

CJC pediatric and congenital heart disease
2026

Marfan Syndrome-Comprehensive Dental/Surgical Management: Clinical Case Report.

International journal of clinical pediatric dentistry
2025

Transcatheter closure of paravalvular leak after Bentall surgery in a Marfan patient: a rare case report.

Frontiers in cardiovascular medicine
2026

Thoracic Endovascular Aortic Repair for Type B Aortic Dissections in Patients With Marfan Syndrome.

JACC. Case reports
2026

Giant left ventricular pseudoaneurysm after ventricular assist device explantation in Marfan syndrome.

European heart journal
2026

Pain Hypersensitivity in a Mouse Model of Marfan Syndrome.

Antioxidants (Basel, Switzerland)
2026

[Comparison of outcomes between emergency surgery and conservative treatment for acute type A aortic intramural hematoma].

Zhonghua yi xue za zhi
2026

Management 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 techniques
2025

Bronchomalacia Complication Following a Bentall Procedure in a Patient With Marfan Syndrome.

Cureus
2026

People With Marfan Syndrome Utilize an Ankle Dominant Strategy to Perform the Sit-to-Stand Task.

Journal of applied biomechanics
2026

Comparison of the Cionni ring and Yamane techniques for intraocular lens implantation in pediatric Marfan syndrome patients with lens subluxation.

BMC ophthalmology
2025

Osteoporosis in Patients With Marfan Syndrome: A Narrative Review of Bone Health and Management.

Cureus
2026

FGF12 induces aberrant mechanosignaling in aortic smooth muscle cells during thoracic aortic aneurysm formation in Marfan syndrome mice.

Experimental &amp; molecular medicine
2025

Degradation of Elastic Fiber Triggers Lacrimal Gland Dysfunction in Marfan Syndrome Mice.

Investigative ophthalmology &amp; visual science
2026

Pharmacotherapy Risks in Rare Genetic Diseases: Cross-Referencing ACMG Secondary Findings v3.2 List With Clinical Databases.

Clinical and translational science
2026

Sutureless Intrascleral One-piece Intraocular Lens Fixation for Ectopia Lentis in Marfan Syndrome.

Journal of refractive surgery (Thorofare, N.J. : 1995)
2026

Type A aortic dissection during pregnancy and postpartum: Experience in 60 patients over 25 years.

The Journal of thoracic and cardiovascular surgery
2025

Anaesthetic Management of a Patient with Marfan Syndrome Undergoing Elective Ventral Hernia Repair.

Healthcare (Basel, Switzerland)
2025

Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.

Diagnostics (Basel, Switzerland)
2025

Robotic navigation assistance for spinal fixation in Marfan syndrome: a case report addressing anatomical challenges.

Journal of spine surgery (Hong Kong)
2025

Characterisation of Type-1 Fibrillinopathies in a Sri Lankan Cohort: Genotype-Phenotype Correlations and Novel FBN1 Variants.

Molecular syndromology
2026

Surgical approach to ocular complications of Marfan syndrome.

Current opinion in ophthalmology
2026

Online 1-session Empowered Relief in Marfan syndrome and related diseases: a single-arm feasibility and pilot efficacy study.

Scientific reports
2026

Pulmonary Vascular Abnormalities and Spontaneous Pneumothorax in Loeys-Dietz Syndrome.

Pathology international
2026

Marfan 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 A
2025

Maternal and neonatal outcomes in Marfan syndrome: a nationwide registry.

Heart (British Cardiac Society)
2026

A 4-Decade Population-Based Registry of Thoracic Aortic Dissection Causing Sudden Death in the Young.

JACC. Advances
2025

Distal anastomotic new-entry tear after type A aortic dissection repair: Incidence patterns and long-term outcomes by extent of aortic replacement.

JTCVS open
2025

A de novo variant of the COL3A1 gene: causality of vascular Ehlers-Danlos syndrome.

Advances in laboratory medicine
2025

Giant coronary button aneurysms two decades after Bentall procedure in Marfan syndrome: A CT perspective.

Journal of cardiovascular computed tomography
2026

Should 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 Surgery
2025

Successful 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 reports
2025

Corrigendum 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 plus
2025

Spontaneously resolved pseudoaneurysm after valve-sparing aortic root replacement in Marfan syndrome: a case report.

Cardiology in the young
2025

Arytenoid dislocation in a patient with Marfan syndrome after undergoing aortic arch surgery.

BMJ case reports
2025

PERADIGM: Phenotype embedding similarity-based rare disease gene mapping.

PLoS genetics
2026

Concomitant 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 Surgery
2026

Myeloperoxidase aggravates thoracic aortic aneurysm formation in Marfan disease.

Cardiovascular research
2026

Type 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 Surgery
2025

Pectus Excavatum-A Frequent but Often Neglected Entity in Sports Cardiology.

Diagnostics (Basel, Switzerland)
2025

Predicting Actual Lens Position to Generate a Novel Intraocular Lens Power Calculation Formula for Marfan Syndrome.

Journal of refractive surgery (Thorofare, N.J. : 1995)
2025

Underlying Aortopathies in Pregnancy: Early Detection, Management, and Advanced Planning.

Cardiology in review
2025

Zonular compromise: A narrative review of indicators and management strategies.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
2025

Complex mitral valve repair in a patient with surgically corrected pectus excavatum: a case report.

Journal of cardiothoracic surgery
2026

Modified Nuss procedure versus Ravitch in concurrent repair of pectus deformity and open-heart surgery.

Asian cardiovascular &amp; thoracic annals
2026

Outcomes of Four-Point Sutured Scleral-Fixated Intraocular Lens Implantation Using Gore-Tex Suture in Paediatric Eyes.

Clinical &amp; experimental ophthalmology
2026

Structural and functional consequences of aspartate/asparagine-β-hydroxylase variants causing Traboulsi syndrome.

The Journal of biological chemistry
2025

Aortic root replacement versus preservation in acute type A aortic dissection repair: meta-analysis of reconstructed time-to-event data.

Journal of cardiothoracic surgery
2025

Lobar torsion following open surgical repair for type B aortic dissection in a patient with Marfan syndrome.

Journal of cardiothoracic surgery
2026

Surgical and Anesthesia-Related Concerns forRobot-Assisted Pediatric Cardiac Surgery.

Journal of cardiothoracic and vascular anesthesia
2026

Complex Dissected Subclavian Artery Aneurysm Repair for a Patient With Marfan Syndrome.

JACC. Case reports
2026

What Underlies the Therapeutic Effect of Angiotensin Receptor Blockade in Marfan Syndrome-Related Aortopathy?

Arteriosclerosis, thrombosis, and vascular biology
2025

Multidisciplinary management of acute type A aortic dissection in a pregnant woman with Marfan syndrome.

Kardiochirurgia i torakochirurgia polska = Polish journal of cardio-thoracic surgery
2025

From Spine to Syndrome: Incidental Spine MRI Red Flags Leading to PMEPA1-Related Loeys-Dietz Syndrome.

Internal medicine (Tokyo, Japan)
2025

Phenotype-driven clustering of ocular manifestations reveals prognostic and genetic heterogeneity in Marfan syndrome: a real-world longitudinal cohort study.

Journal of translational medicine
2025

Role of Angiotensin Receptor Blockers on Cardiovascular Protection in Marfan Syndrome: A Literature Review.

Health science reports
2025

Hybrid prosthesis in frozen elephant trunk procedures for hereditary thoracic aortic diseases: a 14-year single-aortic center experience.

Journal of cardiothoracic surgery
2025

Genotype-aortic phenotype correlations in Marfan syndrome: a systematic review and meta-analysis of Fibrillin-1 variants.

Heart (British Cardiac Society)
2025

Beyond the Heart: Marfan Syndrome From the Cardiologist's Perspective.

Cardiology in review
2025

Surgical Outcomes of Lens Removal with or Without Intraocular Lens Implantation in Marfan Syndrome: A Retrospective Cohort Study.

Clinical ophthalmology (Auckland, N.Z.)
2025

Mid- and long-term evaluation of an alternative to the Liu' modified Bentall procedure for aortic root aneurysm.

Frontiers in cardiovascular medicine
2026

Genotype-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 Genetics
2025

Transcription regulation by TBX18 in smooth muscle cells is essential for normal aortic development and homeostasis.

Cardiovascular research
2025

A diagnostic RNA sequencing assay for direct identification and interpretation of pathogenic variants in the FBN1 gene.

Frontiers in molecular biosciences
2025

[Marfan Syndrome After Undergoing Genetic Testing Related to the Aorta, Following a Staged Total Aortic Replacement].

Kyobu geka. The Japanese journal of thoracic surgery
2025

Pediatric Marfan Syndrome and Heart Transplantation: Insights From the PHIS Database.

Pediatric transplantation
2026

Multimodality Imaging for Thoracic Aortic Aneurysms.

Cardiology clinics
2025

Gene editing for inherited cardiac conditions: A new frontier in cardiology.

Trends in cardiovascular medicine
2026

High-fat diet does not exacerbate aortic pathology and enhances metabolic function in Marfan syndrome Fbn1C1041G/+ mice.

Biochimica et biophysica acta. Molecular basis of disease
2026

Inverse Agonist Activity of Angiotensin II Receptor Blocker Is Crucial for Prevention of Progressive Aortic Dilatation in Marfan Syndrome.

Arteriosclerosis, thrombosis, and vascular biology
2025

Safety of Electroconvulsive Therapy in a Patient With Marfan Syndrome With Associated Cardiac Complications.

The journal of ECT
2025

Ruptured Internal Mammary Artery Aneurysm in Marfan Syndrome With Hemothorax: Concomitant Aneurysmal Involvement of Multiple Medium-Sized Arteries.

The Canadian journal of cardiology
2026

Growth Trajectories in Ascending Thoracic Aortic Dilation: Classification and Implications for the Effectiveness of Real-World Imaging Surveillance.

Journal of the American Heart Association
2026

Elucidating 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 Hemophilia
2025

Three-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 Resonance
2025

Perioperative Care of a Pediatric Patient With Beals Syndrome.

Journal of medical cases
2025

Ventricular dispersion and repolarization in Marfan syndrome: A clinical analysis.

Heart rhythm O2
2025

Combined Pipeline Embolization and Coiling of an Intracranial Aneurysm in Marfan Syndrome: A Case Report and Literature Review.

Neurosurgery practice
2025

Exercise Recommendations for Patients with Marfan Syndrome: An updated review.

European journal of preventive cardiology
2025

Biallelic CPAMD8 variants in a patient with ectopia lentis associated with extraocular systemic features reminiscent of Marfan syndrome.

Human genome variation
2025

Think 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 reports
2025

Mitral Valve Aneurysm With Perforation Resulting in Severe Mitral Regurgitation Secondary to Infective Endocarditis: A Report of a Rare Case.

Cureus
2025

A de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse.

Scientific reports
2025

Bentall-De Bono Procedure as a Treatment for Stanford Type A Chronic Aortic Dissection.

Cureus
2025

Six at Sixty. The revised Ghent nosology for Marfan syndrome turns 15 - what we have gained, what we have missed.

Journal of medical genetics
2025

Open thoracoabdominal surgery after frozen elephant trunk.

Annals of cardiothoracic surgery
2025

The Chinese experience with frozen elephant trunk: contemporary institutional outcomes of the Sun procedure.

Annals of cardiothoracic surgery
2025

Severe Necrotizing Anterior Scleritis in Marfan Syndrome: A Case of Scleromalacia Perforans.

Clinical case reports
2025

Beyond the usual spectrum: Atrial septal defect in a Marfan syndrome patient with severe aortic pathologies.

Journal of family medicine and primary care
2025

Recurrent Cavus Foot in an Adolescent With Marfan Syndrome: A Case Report.

Cureus
2025

Rheumatic and musculoskeletal disorders in musicians: risks, adaptations and management.

RMD open
2025

Superficial siderosis in Marfan syndrome.

Practical neurology
2025

Marfan Europe Network: Together we can!

FEBS letters
2025

Delayed rebound intracranial hypertension following treatment for a spontaneous CSF leak in a patient with Marfan syndrome.

Acta neurologica Belgica
2025

Unbiased Heterojunction Design for Aqueous Humor Metabolic Monitoring of Cardiovascular Complications in Marfan Syndrome.

Small methods
2025

Pregnant Patient With Infrarenal Abdominal Aortic Aneurysm Successfully Treated With EVAR.

JACC. Case reports
2025

A Marfan-Associated FBN1 Nonsense Mutation Mouse Model Reveals Adventitial Inflammation During Aneurysm Progression.

bioRxiv : the preprint server for biology
2025

Sudden death due to aortic dissection: autopsy study (2011-2023).

Journal of forensic and legal medicine
2025

Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders.

Genes
2025

Long-Term Outcomes of Prenatally Diagnosed Fetal Hemivertebra: A 15-Year Single-Center Review.

Children (Basel, Switzerland)
2025

Mitral Valve Replacement via Right Thoracotomy in a Patient With Marfan Syndrome and Severe Scoliosis After a Prior Bentall Procedure.

Cureus
2025

Postoperative 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 management
2026

Pathologies of the cervical spine in skeletal syndromes and dysplasias.

Orthopaedics &amp; traumatology, surgery &amp; research : OTSR
2025

A pictorial essay of thoracic wall diseases: multiple pathologies in the same anatomical site.

Insights into imaging
2025

Mitochondrial DNA mutations as a potential modifier for the clinical variability of Marfan syndrome.

QJM : monthly journal of the Association of Physicians
2025

Intraoperative Neurophysiological Monitoring in Patients With Marfan Syndrome Scoliosis.

Orthopaedic surgery
2025

Personalized 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 surgery
2025

Establishment of a Stacking Machine Learning Model Predicting Cardiac Phenotype in Ectopia Lentis Patients Based on Genotype and Ocular Phenotype.

International journal of medical sciences
2025

Study on the remodeling of distal residual dissection after surgery in patients with type A aortic dissection and Marfan syndrome.

JTCVS open
2025

Mitral 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 Resonance
2025

Computed tomography angiography diagnosis of Marfan syndrome complicated with fulminant myocarditis under extracorporeal membrane oxygenation support: a case report.

European heart journal. Case reports
2025

Therapeutic Opportunities of Marfan Syndrome: Current Perspectives.

Drug design, development and therapy
2025

Combined David procedure and mitral valve repair in Marfan syndrome with mitral annular disjunction.

Multimedia manual of cardiothoracic surgery : MMCTS
2025

Apoptosis and Brain Dervived Neurotrophic Factor are increased in cortical neurons of Marfan Syndrome mice.

microPublication biology
2026

Psychosocial aspects, chronic pain, fatigue and quality of life in individuals with Stickler syndrome: a scoping review and a cross-sectional questionnaire study.

Disability and rehabilitation
2025

Biomechanics 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 Surgery
2026

Association between Mitral Valve Pathology and Ventricular Ectopy in the Pediatric Marfan Population.

Pediatric cardiology
2025

Phenotyping Fatigue Profiles in Marfan Syndrome Through Cluster Analysis: A Cross-Sectional Study of Psychosocial and Clinical Correlates.

Journal of clinical medicine
2025

Indications and Outcomes of Select Vitreoretinal Surgery in Patients With Marfan Syndrome.

Journal of vitreoretinal diseases
2025

Perivascular inflammation in the progression of aortic aneurysms in Marfan syndrome.

JCI insight
2025

Exploring patient experiences of pain fatigue and physical activity in syndromic heritable thoracic aortic disease using mixed methods.

Scientific reports
2025

Undiagnosed Marfan's Syndrome Presenting with Primary Spontaneous Pneumothorax in a Young, Short, Nonsmoker Adult at Emergency.

The Journal of the Association of Physicians of India
2025

Skeletal muscle alterations in Marfan syndrome: a systematic review.

Journal of muscle research and cell motility
2025

Mitral Annular Disjunction in Marfan Syndrome: A Multicenter Cardiovascular Magnetic Resonance Study.

Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance
2025

Outcomes of fenestrated-branched endovascular aortic repair of thoracoabdominal aortic aneurysms in patients with heritable thoracic aortic diseases.

JTCVS techniques
2025

Hybrid transcatheter aortic valve replacement for mechanical valve dysfunction in a patient with Marfan syndrome and previous Bentall procedure: A novel approach.

JTCVS techniques
2026

PREVALENCE, RISK FACTORS, AND OUTCOMES OF RHEGMATOGENOUS RETINAL DETACHMENTS REPAIR IN MARFAN SYNDROME.

Retina (Philadelphia, Pa.)
2025

Elastosis Perforans Serpiginosa Is Not a Cutaneous Manifestation of Marfan Syndrome.

Cureus
2025

Total aortic arch replacement with frozen elephant trunk in patients with Marfan syndrome.

Annals of cardiothoracic surgery
2026

Aortic Valve-Sparing Root Operation in Patients With Marfan and Loeys-Dietz Syndrome.

The Annals of thoracic surgery
2025

Phenotypic Diversity of Marfan Syndrome.

JACC. Advances
2025

Personalized external aortic root support: The Dutch experience.

The Journal of thoracic and cardiovascular surgery
2025

Bilateral lens subluxation in a child with Marfan syndrome.

Journal of cataract and refractive surgery
2025

Bentall procedure with a continuous suture technique.

Multimedia manual of cardiothoracic surgery : MMCTS
2025

A case of innominate artery aneurysm in a pregnant woman treated by endovascular stent grafting.

Nagoya journal of medical science
2025

Anchor-assisted capsular bag IOL implantation to correct subluxated lenses in children with Marfan syndrome: long-term follow-up.

Journal of cataract and refractive surgery
2026

Giant Intrabdominal Meningocele in a Patient with Marfan Syndrome: Case Description and Surgical Management.

Neurocirugia
2025

Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.

Genes
2025

Excessive glycosylation drives thoracic aortic aneurysm formation through integrated stress response.

European heart journal
2025

Cartilage Oligomeric Matrix Protein, a Potential Biomarker for Thoracic Aortic Dissection.

JACC. Basic to translational science
2025

Diverticulitis: A Review.

JAMA
2025

Statistical considerations for predicting outcomes in patients with Marfan syndrome.

The Journal of thoracic and cardiovascular surgery
2025

A Multidisciplinary Aortopathy Clinic: The McGill Experience.

CJC open
2025

Exploring thoracic aorta ECM alterations in Marfan syndrome: insights into aorta wall structure.

Scientific reports
2025

The Reduction of COMP Serves as a Predictor for Warning of Aortic Dissection Progression.

JACC. Basic to translational science
2025

Minimum Core Data Elements for Evaluation of Thoracic Aortic Disease.

JACC. Advances
2025

Combined genome and transcriptome analysis identifies molecular signatures of aortic disease in patients with Marfan syndrome.

Journal of molecular and cellular cardiology plus
2025

Case Report: FBN1 mutation screening in South African patients with Marfan syndrome.

Frontiers in genetics
2025

Large dissecting sinus of Valsalva aneurysm creating a 'triple ventricle' appearance: case report.

European heart journal. Case reports
2025

Growth Arrest of Thoracic Aortic Aneurysms in Aging Marfan Mice.

bioRxiv : the preprint server for biology
2025

Traboulsi syndrome involving aortopathy: further evidence of the phenotypic overlap with Marfan syndrome.

Clinical dysmorphology
2025

Loss of function variants in ADAMTS6 : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS).

medRxiv : the preprint server for health sciences
Ver todos os 3.498 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Marfan Before Marfan? Iconodiagnostic Analysis of a Possible Marfan Spectrum Phenotype in an Etruscan Sculpture.
    Clinical genetics· 2026· PMID 41791873mais citado
  2. Downregulation of S100a8 mitigates fibrosis in skeletal muscles affected by Marfan syndrome.
    Molecular therapy. Nucleic acids· 2026· PMID 41726103mais citado
  3. 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.
    Orphanet journal of rare diseases· 2026· PMID 41639855mais citado
  4. Generation of an induced pluripotent stem cell line, JHUi006-A, from a Marfan Syndrome patient harboring a pathogenic c.5225-2A&#xa0;&gt;&#xa0;C intronic splicing variant.
    Stem cell research· 2026· PMID 41632995mais citado
  5. Pharmacotherapy Risks in Rare Genetic Diseases: Cross-Referencing ACMG Secondary Findings v3.2 List With Clinical Databases.
    Clinical and translational science· 2026· PMID 41527333mais citado
  6. [Pathomorphological features of various etiological forms of aortic aneurysm].
    Arkh Patol· 2026· PMID 41989545recente
  7. Loeys-Dietz Syndrome: 2026 updated care management primer.
    Genet Med· 2026· PMID 41988792recente
  8. First-Trimester Aortic Root Replacement in a Pregnant Woman with Previously Undiagnosed Marfan Syndrome.
    Eur J Case Rep Intern Med· 2026· PMID 41988550recente
  9. Editorial: Advances in molecular genetics of Marfan syndrome and related disorders.
    Front Genet· 2026· PMID 41978774recente
  10. Cataracta Pulverulenta in Marfan Syndrome: An Atypical Ocular Presentation: Case Report.
    Rom J Ophthalmol· 2025· PMID 41971218recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:558(Orphanet)
  2. OMIM OMIM:154700(OMIM)
  3. MONDO:0007947(MONDO)
  4. GARD:16535(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. 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

Síndrome Marfan
Compêndio · Raras BR

Síndrome Marfan

ORPHA:558 · MONDO:0007947
Prevalência
1-5 / 10 000
Herança
Autosomal dominant
CID-10
Q87.4 · Síndrome de Marfan
CID-11
Ensaios
15 ativos
Medicamentos
10 registrados
Início
All ages
Prevalência
15.0 (Worldwide)
MedGen
UMLS
C0024796
EuropePMC
Wikidata
Wikipedia
Papers 10a
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