马方综合征

定义 英文原文（暂无中文）

Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.

别名

MFS

基本事实

遗传方式

常染色体显性

发病年龄

各年龄段

患病率

1-5 / 10 000（Europe）

相关基因 1来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

临床表型 68

近两年的全球研究 2,809L2

2024/10 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-10
  Allopurinol for Marfan Aortopathy: Pharmacogenomic Safety and Sex-Stratified Trial Design Warrant Consideration
  Cardiovascular drugs and therapy · DOI · Europe PMC
• 2026-10
  Ventricular Arrhythmias in Marfan Syndrome: Prevalence and Clinical Correlates in a Multicenter Cohort
  Circulation. Arrhythmia and electrophysiology · DOI · Europe PMC
• 2026-10
  Selective Endovascular Aortic Repair in Connective Tissue Disease Patients Within a Multidisciplinary Program Achieves Comparable Outcomes in High-Risk Patients
  Journal of vascular surgery · DOI · Europe PMC
• 2026-10
  Decision-Making in IVF: Restrictions on PGT-M Positive Embryo Transfers-A Qualitative Study
  Journal of genetic counseling · DOI · Europe PMC
• 2026-09
  Molecular heterogeneity and diagnostic performance of phenotype-driven multigene panel testing in patients with marfanoid habitus
  Journal of applied genetics · DOI · Europe PMC
• 2026-09开放获取
  SCTS Annual Meeting 2025: Abstracts
  Journal of cardiothoracic surgery · DOI · Europe PMC
• 2026-09
  Accuracy of intraocular lens power calculation in pediatric aphakia with the Artisan iris-claw lens
  Graefe's archive for clinical and experimental ophthalmology = Albrech · DOI · Europe PMC
• 2026-09开放获取
  Health-related quality of life, psychological well-being and physical activity in patients with mild-to-moderate ascending aortic dilation - a cross-sectional case-control study
  BMC cardiovascular disorders · DOI · Europe PMC
• 2026-09综述开放获取
  Standardizing the Yamane flanged intrascleral haptic fixation: A framework for efficacy, complication mitigation, and reproducible training
  World journal of methodology · DOI · Europe PMC
• 2026-09综述病例报告开放获取
  Tangier Disease
  Current atherosclerosis reports · DOI · Europe PMC
• 2026-09
  Exome-wide screening discovers novel pathogenic variants in Vietnamese primary congenital glaucoma patients
  Genes & genomics · DOI · Europe PMC
• 2026-09综述开放获取
  Congenital Chest Wall Deformities in Children: A Narrative Review
  Children (Basel, Switzerland) · DOI · Europe PMC
• 2026-09综述
  Introducing Allopurinol to the Medical Treatment of Marfan Syndrome: Advantages, Limitations, and Potential Extension to other Aortopathies
  Cardiovascular drugs and therapy · DOI · Europe PMC
• 2026-09综述开放获取
  Smooth Muscle Cell Plasticity as a Central Determinant of Plaque Stability
  Current atherosclerosis reports · DOI · Europe PMC
• 2026-09
  Cautionary Data on Antihypertensives in Aortic Diseases
  Hypertension (Dallas, Tex. : 1979) · DOI · Europe PMC
• 2026-09开放获取
  ADAR1 and ADAR2 Expression in the Thoracic Aortic Wall Correlates with Aneurysm Severity and Dissection Risk: Insights into A-to-I RNA Editing Dysregulation in Marfan Syndrome-Derived vSMCs
  International journal of molecular sciences · DOI · Europe PMC
• 2026-09病例报告开放获取
  Light Adjustable Lens (LAL) using Yamane intrascleral flanged fixation for traumatic aphakia: A case report
  American journal of ophthalmology case reports
• 2026-09
  TRPV4 is Associated with a Marfan Syndrome-Related Mechanosensitive Gene Program in Aortic Smooth Muscle Cells
  Biochemical genetics · DOI · Europe PMC
• 2026-09综述
  FBN1-related connective tissue disorders: unraveling cardiovascular, skeletal, and ocular complications through TGF-β signaling dysregulation and genotypic correlations
  Molecular aspects of medicine · DOI · Europe PMC
• 2026-09开放获取
  Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey
  Journal of community genetics · DOI · Europe PMC

境外已获批用于本病的药物 0L2

欧盟与美国均未检索到已获批用于本病的药物。

数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。

在中国开展的临床试验 3L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。

登记为可入组 1

• 招募中NCT07672210
  PregnAncy-Related Aortic DISsEction in China
  观察性 · 2026/03/17DeltaHealth Hospital · Shanghai
  中国研究中心 4 个：Beijing、Guangzhou、Shanghai、Wuhan

中国境外的在招试验 19L2

CT.gov 报告命中 19 项，此处取回并展示最近的 15 项。

• 尚未开始招募NCT07793747
  Serum Asprosin, Metabolic Syndrome, and Cardiometabolic Risk in Rheumatoid Arthritis
  观察性 · 2026/10Assiut University
• 尚未开始招募NCT07803198
  Asprosin in Behect Patients
  观察性 · 2026/09/01Assiut University
• 尚未开始招募NCT07358533
  Metabolic Obesity in Normal Weight (MONW): Diagnostic Markers Stud
  观察性 · 2026/09Pomeranian Medical University Szczecin
  波兰
• 尚未开始招募NCT07591844
  Effect of Periodontal Therapy on Asprosin in Stable Angina
  不适用 · 干预性 · 2026/05/20Ondokuz Mayıs University
  土耳其
• 尚未开始招募NCT07495267
  Nutritional Ketosis Marfan
  不适用 · 干预性 · 2026/03/13Washington University School of Medicine
• 尚未开始招募NCT07419386
  Clinical and Psychosocial Factors Associated With Physical Activity Level in Adults With Marfan Syndrome
  观察性 · 2026/02/22University of Oviedo
  西班牙
• 尚未开始招募NCT07169669
  Multicentre Longitudinal Study of Bone Mineralisation Characteristics in Marfan Syndrome and Ehlers-Danlos Syndrome
  观察性 · 2025/10/31IRCCS Policlinico S. Donato
• 招募中NCT06546137
  National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry
  观察性 · 2025/04/30Hospital do Coracao
  巴西
• 尚未开始招募NCT06735313
  Changes in Salivary Asprosin, IL-39, IL-40 and IL-1β Levels in Diabetic Patients with Periodontitis
  不适用 · 干预性 · 2025/01/10Necmettin Erbakan University
  土耳其
• 尚未开始招募NCT06592560
  Asprosin in Breast Cancer
  观察性 · 2024/10Marina Hanna Thabet Ghobrial
• 招募中NCT06782230
  ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and Shared Criteria
  观察性 · 2024/08/31IRCCS Policlinico S. Donato
  意大利
• 招募中NCT06720883
  Robotically Assisted Surgery For Perihilar Cholangiocarcinoma: A Prospective Study
  观察性 · 2024/06/07Azienda Ospedaliera di Padova
  意大利
• 招募中NCT05809323
  Marfan Syndrome Moderate Exercise Trial II
  不适用 · 干预性 · 2023/09/01Baylor College of Medicine
  美国
• 招募中NCT05838235
  Adapted Physical Activity Program (APA) for Effort Rehabilitation of Children and Teenagers With Marfan Syndrome
  不适用 · 干预性 · 2023/04/24University Hospital, Toulouse
  法国
• 招募中NCT05702476
  Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment
  观察性 · 2023/01/09IRCCS Policlinico S. Donato
  意大利

外部标识与链接