Doença genética do tecido conjuntivo causada por mutações no gene FBN1. O tecido conjuntivo é o material entre as células do corpo que dá forma e força aos tecidos. Os sintomas incluem prolapso da válvula mitral, miopia, aumento aórtico limítrofe e não progressivo e achados cutâneos e esqueléticos que se sobrepõem aos observados na síndrome de Marfan. O tratamento é baseado nos sintomas individuais.
Introdução
O que você precisa saber de cara
A Síndrome MASS é uma condição genética rara que atinge o tecido conjuntivo, estrutura responsável por sustentar os órgãos do corpo. Ela é causada por alterações no gene FBN1 e pode gerar prolapso da valva mitral no coração, miopia, estatura desproporcionalmente alta e dedos longos. O tratamento é focado nas manifestações individuais de cada paciente, demandando vigilância cardiológica e ortopédica periódica. No Brasil, a condição não conta com um Protocolo Clínico e Diretrizes Terapêuticas (PCDT) próprio nem remédios exclusivos dispensados pelo SUS, sendo acompanhada pela rede de saúde conforme os sintomas.
Doença genética do tecido conjuntivo causada por mutações no gene FBN1. O tecido conjuntivo é o material entre as células do corpo que dá forma e força aos tecidos. Os sintomas incluem prolapso da válvula mitral, miopia, aumento aórtico limítrofe e não progressivo e achados cutâneos e esqueléticos que se sobrepõem aos observados na síndrome de Marfan. O tratamento é baseado nos sintomas individuais.
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 4 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 11 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.
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.
Variantes genéticas (ClinVar)
4.741 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 332 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 MASS
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Com ensaio aberto em 1 país. O ponto verde marca onde há vaga agora.
Pesquisa e ensaios clínicos
1 ensaios clínicos encontrados.
Publicações mais relevantes
Perioperative Anesthetic Management of Giant Mediastinal Tumors: Current Advances and Evidence-Based Strategies.
Perioperative anesthetic management of giant mediastinal tumors presents significant challenges in cardiothoracic anesthesia due to the risk of mediastinal mass syndrome. This comprehensive review synthesizes recent evidence on risk stratification, evolving anesthetic techniques, and innovative support technologies. Contemporary evidence challenges traditional dogma, demonstrating that positive pressure ventilation and neuromuscular blockade can be safely applied under appropriate monitoring in selected patients. Risk stratification incorporating tumor size (≥0.5 ratio), airway compression (>50%), and hemodynamic parameters enables individualized management approaches. Extracorporeal membrane oxygenation has evolved from rescue therapy to prophylactic support, with clear guidelines for deployment. Tumor-specific protocols address unique challenges, including tumor lysis syndrome in lymphomas, myasthenic crisis in thymomas, and coagulopathy in germ cell tumors. The integration of advanced monitoring, prophylactic extracorporeal membrane oxygenation strategies, and evidence-based protocols provides a framework for safe management while expanding surgical feasibility for these complex cases.
Safe Resection of a Giant Mediastinal Liposarcoma with Severe Cardiac Compression.
Dedifferentiated liposarcomas of the mediastinum are exceedingly rare, and surgical resection is the primary treatment of choice. Mediastinal mass syndrome (MMS) is an oncological emergency characterized by compression or invasion of the heart, great vessels, or trachea by a large mediastinal tumor, particularly during the induction of anesthesia. We report a case of a giant dedifferentiated liposarcoma in the anterior mediastinum, surgically resected due to severe cardiac compression and presenting as an oncological emergency. A 70-year-old male presented with palpitations, generalized fatigue, and chest tightness. Chest radiography revealed an enlarged mediastinal shadow, prompting referral to our hospital. CT revealed a rapidly growing, giant anterior mediastinal tumor measuring 22 × 14.5 × 8.5 cm. The mass caused significant cardiac compression and extended into the pleural cavity. A CT-guided percutaneous biopsy confirmed a dedifferentiated liposarcoma. Given the patient's presentation of tachycardia and relatively low blood pressure secondary to the large tumor, a semi-urgent surgical resection was planned. Surgical resection was performed with veno-arterial extracorporeal membrane oxygenation (VA-ECMO) on standby, anticipating potential hemodynamic decompensation during the induction of general anesthesia and surgery. Remarkably, the patient's hemodynamics remained stable throughout the induction of general anesthesia, without requiring VA-ECMO support. A clamshell incision allowed for complete tumor resection, including a portion of the pericardium. Postoperatively, the patient recovered uneventfully, except for transient paroxysmal atrial fibrillation and heart failure. The final pathological diagnosis confirmed dedifferentiated liposarcoma, with tumor cells affecting the pericardial and anterior chest wall surgical margins. The patient received postoperative radiation therapy and adjuvant chemotherapy and has remained free of recurrence for 1 year after surgery. We successfully performed semi-urgent surgery in a patient with a rapidly growing, giant anterior mediastinal mass causing severe cardiac compression, with VA-ECMO on standby. As MMS constitutes an oncologic emergency, careful assessment of subjective symptoms and imaging findings is required to determine the need for preparing or initiating extracorporeal life support.
Complete Resection of a Giant Mediastinal Liposarcoma Extending Into Both Pleural Cavities via Median Sternotomy: A Case Report.
Surgical resection is the primary treatment for giant mediastinal liposarcoma. However, aggressive R0 resection involving major nerves can lead to fatal functional loss. Clinicians must balance oncological radicality with functional preservation, as early diagnosis remains the most critical factor for avoiding highly morbid, extensive surgeries.
Cognitive aids in thoracic emergencies.
This review summarizes anesthetic challenges in up-to-date developments of cognitive aids in thoracic anesthesia emergencies. Recent advancements demonstrate a progression toward structured, algorithm-driven approaches that mitigate cognitive overload, enhance team coordination, and support clinical decision-making during rare, high-stakes events such as massive hemoptysis, tracheobronchial obstruction, mediastinal mass syndrome, or pericardial tamponade. Evidence highlights that cognitive aids - ranging from checklists and flowcharts to simulation-based mnemonics - improve recall, technical performance, and interdisciplinary communication, thereby reducing errors and omissions of essential steps in the acute setting, although they cannot substitute clinical judgement. While several conditions, including massive hemoptysis and mediastinal masses, are supported by structured frameworks, others such as bronchopleural fistula, aortoesophageal fistula, or diaphragmatic rupture still lack standardized tools and yet depend largely on institutional case-based experience and expert opinion. Well-designed cognitive aids facilitate critical priorities such as airway protection, bleeding control, and hemodynamic stabilization, and guide complex multidisciplinary interventions like bronchial artery embolization or thoracic endovascular aortic repair. Their successful use requires appropriate design and thoughtful integration into local practice, simulation training, and crisis resource management. Future efforts should focus on systematic development and validation of specialty-specific tools to optimize patient outcomes and strengthen resilience in thoracic anesthesia crisis management.
Severe respiratory distress with open-mouth breathing in a young Persian cat.
Publicações recentes
Perioperative Anesthetic Management of Giant Mediastinal Tumors: Current Advances and Evidence-Based Strategies.
Safe Resection of a Giant Mediastinal Liposarcoma with Severe Cardiac Compression.
Complete Resection of a Giant Mediastinal Liposarcoma Extending Into Both Pleural Cavities via Median Sternotomy: A Case Report.
Characterisation of Type-1 Fibrillinopathies in a Sri Lankan Cohort: Genotype-Phenotype Correlations and Novel FBN1 Variants.
Cognitive aids in thoracic emergencies.
📚 EuropePMC22 artigos no totalmostrando 57
Perioperative Anesthetic Management of Giant Mediastinal Tumors: Current Advances and Evidence-Based Strategies.
Journal of cardiothoracic and vascular anesthesiaSafe Resection of a Giant Mediastinal Liposarcoma with Severe Cardiac Compression.
Surgical case reportsComplete Resection of a Giant Mediastinal Liposarcoma Extending Into Both Pleural Cavities via Median Sternotomy: A Case Report.
Clinical case reportsCharacterisation of Type-1 Fibrillinopathies in a Sri Lankan Cohort: Genotype-Phenotype Correlations and Novel FBN1 Variants.
Molecular syndromologyCognitive aids in thoracic emergencies.
Current opinion in anaesthesiologySevere respiratory distress with open-mouth breathing in a young Persian cat.
Journal of the American Veterinary Medical AssociationPrenatal diagnosis and postnatal management of perinatal thoracoabdominopelvic tumors: multicenter experience.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyResuscitation of a case of cardiac arrest complicated by resection of a giant mediastinal tumor: a case report and literature review.
Frontiers in oncologyOtherwise, inoperable. The role of ECMO in thoracic surgery - focus on the mediastinum.
Portuguese journal of cardiac thoracic and vascular surgeryA Case of Life-Threatening Contralateral Tension Pneumothorax during Video-Assisted Thoracic Surgery in a Patient with Retrosternal Goiter.
Annals of cardiac anaesthesiaLocal Anesthetic Infiltration, Awake Veno-Venous Extracorporeal Membrane Oxygenation, and Airway Management for Resection of a Giant Mediastinal Cyst: A Narrative Review and Case Report.
Journal of clinical medicinePerioperative management of patients with mediastinal mass syndrome.
Current opinion in anaesthesiologyAcute mediastinal mass syndrome after surgical biopsy of a massive anterior mediastinal tumor: a case report.
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Medicina (Kaunas, Lithuania)Perioperative strategies and management of giant anterior mediastinal tumors: a narrative review.
Mediastinum (Hong Kong, China)Challenges and pitfalls in the perioperative management of mediastinal mass syndrome: an up-to-date review.
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Journal of gynecology obstetrics and human reproduction[Large excoriated pleomorphic liposarcoma].
Revue medicale de LiegeGerm Cell Tumor Complicated by Mediastinal Mass Syndrome: A Report of Cardiac Arrest to Full Recovery.
Cureus[Pre-iliac tumor mass syndrome: An atypical rheumatoid nodule].
Annales de chirurgie plastique et esthetique[Risky confirmation of a diagnosis: case series of three female patients with mediastinal mass syndrome].
Chirurgie (Heidelberg, Germany)Multicenter randomized trial comparing diagnostic sensitivity and cellular abundance with aggressive versus standard biliary brushing for bile duct stenosis without mass syndrome.
EndoscopyDifficult ventilation in a patient with a giant aortic aneurysm: A challenge for the anesthesiologist.
Annals of cardiac anaesthesiaMir155 regulates osteogenesis and bone mass phenotype via targeting S1pr1 gene.
eLifeAnesthetic management of patients undergoing mediastinal mass operation.
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Clinical case reportsGuidance for assessment of the muscle mass phenotypic criterion for the Global Leadership Initiative on Malnutrition (GLIM) diagnosis of malnutrition.
Clinical nutrition (Edinburgh, Scotland)Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
Scientific reports[Comportamiento y decisión cardiovascular en el síndrome de MASS. Reporte de un caso y revisión de la literatura].
Archivos de cardiologia de MexicoMitral Valve Prolapse and Its Motley Crew-Syndromic Prevalence, Pathophysiology, and Progression of a Common Heart Condition.
Journal of the American Heart AssociationYoung Man with Cardiac Arrest Secondary to Undiagnosed Mediastinal Mass: A Case Report.
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Journal of pediatric hematology/oncologyIntraoperative Catastrophe during Benign Mediastinal Tumor Mass Excision: A Case Report.
CureusComputed tomograpy evaluation of ureteral length in children.
Journal of pediatric urologyKrüppel-like factor 3 inhibition by mutated lncRNA Reg1cp results in human high bone mass syndrome.
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GenesIncomplete Mass Phenotype: Description of a New Pathogenic Variant of the Fibrillin-1 Gene.
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Revue medicale de LiegeWnt11 promotes BMP9-induced osteogenic differentiation through BMPs/Smads and p38 MAPK in mesenchymal stem cells.
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Revue medicale de LiegeCase report: Central nervous system involvement of human graft versus host disease: Report of 7 cases and a review of literature.
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Journal of visceral surgeryTumoral calcinosis: Diffuse multifocal form in hemodialysis patients. Two case reports.
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Journal of molecular endocrinologyAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Síndrome MASS e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
A Síndrome MASS é uma alteração genética do tecido conjuntivo decorrente de mutações no gene FBN1. Ela reúne manifestações em diferentes órgãos, com sinais em valvas cardíacas, olhos, pele e esqueleto que se assemelham àqueles vistos na síndrome de Marfan.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
6 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (s.d.). Síndrome MASS. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-mass
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Síndrome MASS
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Genética mendeliana
- fonte: OMIM
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata