Marfan syndrome  马凡氏综合征

Marfan syndrome is caused by variants in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for connective tissue in the body.
马凡氏综合征是由名为纤维蛋白原-1 的基因变异引起的。纤维蛋白原-1 在体内起着构建结缔组织的重要作用。

The gene variant also causes the long bones of the body to grow too much. People with this syndrome have tall height and long arms and legs. How this overgrowth happens is not well understood.
该基因变异还会导致身体长骨过度生长。患有这种综合征的人身高较高，手臂和腿也较长。这种过度生长是如何发生的尚不清楚。

Other areas of the body that are affected include:
受影响的体内其他部位包括：

• Lung tissue (there may be a pneumothorax, in which air can escape from the lung into the chest cavity and collapse the lung)
  肺组织（可能出现气胸，其中空气会从肺部逸出到胸腔，并使肺塌陷）
• The aorta, the main blood vessel that takes blood from the heart to the body may stretch or become weak (called aortic dilation or aortic aneurysm)
  主动脉，将血液从心脏输送到身体的主要血管，可能会扩张或变弱（称为主动脉扩张或主动脉瘤）
• The heart valves  心脏瓣膜
• The eyes, causing cataracts and other problems (such as a dislocation of the lenses)
  眼睛，导致白内障和其他问题（例如晶状体脱位）
• The skin  皮肤
• Tissue covering the spinal cord
  脊髓覆盖组织
• The joints  关节

In most cases, Marfan syndrome is passed down through families (inherited). However, up to 30% of people have no family history, which is called "sporadic." In sporadic cases, the syndrome is believed to be caused by a new gene change.
大多数情况下，马凡氏综合征是遗传的。然而，多达 30% 的患者没有家族史，这被称为“散发性”。在散发性病例中，该综合征据信是由新的基因变化引起的。

People with Marfan syndrome are often tall with long, thin arms and legs and spider-like fingers (called arachnodactyly). The length of the arms is greater than height when arms are stretched out.
马凡氏综合征患者通常身材高挑，手臂和腿部细长，手指像蜘蛛腿（称为蜘蛛指）。手臂伸直时，手臂长度大于身高。

Other symptoms include:  其他症状包括：

• A chest that sinks in or sticks out, called funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)
  胸部塌陷或突出，称为漏斗胸(pectus excavatum)或鸡胸(pectus carinatum)
• Flat feet  扁平足
• Highly arched palate and crowded teeth
  高拱形腭和拥挤的牙齿
• Hypotonia of muscles (low muscle tone)
  肌张力低下（肌肉张力低）
• Joints that are too flexible (but the elbows may be less flexible)
  关节过于灵活（但肘关节可能不太灵活）
• Learning disability  学习障碍
• Movement of the lens of the eye from its normal position (dislocation)
  眼睛晶状体从正常位置移动（脱位）
• Nearsightedness  近视
• Small lower jaw (micrognathia)
  小下颌（小下颌畸形）
• Spine that curves to one side (scoliosis)
  向一边弯曲的脊柱(脊柱侧弯)
• Thin, narrow face   瘦长、狭窄的脸

Many people with Marfan syndrome suffer from chronic muscle and joint pain.
许多患有马凡氏综合征的人会遭受慢性肌肉和关节疼痛。

The health care provider will perform a physical exam. The joints may move around more than normal. There may also be signs of:
医护人员将进行体格检查。关节活动可能比正常情况更灵活。还可能有以下迹象：

• Aneurysm  动脉瘤
• Collapsed lung  肺部塌陷
• Heart valve problems   心脏瓣膜问题

An eye exam may show:
眼科检查可能显示：

• Defects of the lens or cornea
  晶状体或角膜缺陷
• Retinal detachment  视网膜脱离
• Vision problems   视力问题

The following tests may be performed:
以下检查可能会进行：

• Echocardiogram  超声心动图
• Fibrillin-1 mutation testing (in some people)
  (某些人)纤连蛋白-1 基因突变检测

An echocardiogram or another test should be done every year to look at the base of the aorta and possibly the heart valves. Depending on the results, you may need this test less often than yearly.
每年应进行一次超声心动图或其他检查，以观察主动脉根部和心脏瓣膜。根据结果，您可能不需要每年都进行此检查。

Vision problems should be treated when possible.
视力问题应尽可能治疗。

Monitor for scoliosis, especially during the teenage years.
监测脊柱侧弯，尤其是在青少年时期。

Medicine to slow the heart rate and lower blood pressure may help prevent stress on the aorta. To avoid injuring the aorta, people with the condition may have to modify their activities. Some people may need surgery to replace the aortic root and valve.
降低心率和血压的药物可能有助于预防主动脉压力过大。为了避免损伤主动脉，患有这种疾病的人可能需要调整他们的活动。有些人可能需要手术来更换主动脉根部和瓣膜。

Pregnant women with Marfan syndrome must be monitored very closely because of the increased stress on the heart and aorta.
患有马凡氏综合征的孕妇由于心脏和主动脉承受的压力增加，必须接受非常密切的监测。

More information and support for people with Marfan syndrome and their families can be found at:
患有马凡氏综合征的人及其家人可以从以下资源获得更多信息和支持：

• The Marfan Foundation -- marfan.org
  马凡氏症基金会 -- marfan.org

Heart-related complications may shorten the lifespan of people with this disease. However, many people live into their 60s and beyond. Good care and surgery may further extend lifespan.
心脏相关并发症可能会缩短患有这种疾病的人的寿命。然而，许多人活到了 60 多岁甚至更久。良好的护理和手术可能会进一步延长寿命。

Complications may include:
并发症可能包括：

• Aortic regurgitation  主动脉瓣关闭不全
• Aortic rupture  主动脉破裂
• Bacterial endocarditis  细菌性心内膜炎
• Dissecting aortic aneurysm (also called aortic dissection) 
  主动脉夹层 (也称为主动脉夹层)
• Enlargement of the base of the aorta
  主动脉根部扩张
• Heart failure  心力衰竭
• Mitral valve prolapse  二尖瓣脱垂
• Scoliosis  脊柱侧弯
• Vision problems   视力问题

Couples who have this condition and are planning to have children may want to talk to a genetic counselor before starting a family.
有这种疾病的夫妇计划生育时，可能需要在开始组建家庭之前咨询遗传顾问。

Spontaneous new gene variants leading to Marfan syndrome (less than one third of cases) cannot be prevented. If you have Marfan syndrome, see your provider at least once every year.
自发产生的导致马凡氏综合征的新基因变异（占病例不到三分之一）无法预防。如果您患有马凡氏综合征，请每年至少去看一次您的医疗提供者。

Aortic aneurysm - Marfan  马凡综合征主动脉瘤

Doyle JJ, Dietz HC. Marfan syndrome. In: Kliegman RM, St. Geme JW, Blum NJ, et al. eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 743.
Doyle JJ，Dietz HC. 马凡综合征。载于：Kliegman RM，St. Geme JW，Blum NJ 等编著。儿科学教科书（Nelson Textbook of Pediatrics）。第 22 版。费城，宾夕法尼亚州：艾思唯尔；2025：第 743 章。

Madan-Khetarpal S, Arnold G, Ortiz D. Genetic disorders and dysmorphic conditions. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 1.
马丹-克赫特帕尔 S，阿诺德 G，奥尔蒂斯 D. 遗传性疾病和畸形疾病。载于：齐特利 BJ，麦克因蒂尔 SC，诺瓦克 AJ，加里森 J，编著。齐特利和戴维斯儿科诊断图谱。 第 8 版。费城，宾夕法尼亚州：艾思唯尔；2023：第 1 章。

Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 239.
帕耶里茨 RE. 结缔组织的遗传性疾病。载于：戈德曼 L，库尼 KA，编著。戈德曼-西塞尔医学。 第 27 版。费城，宾夕法尼亚州：艾思唯尔；2024：第 239 章。

Updated by: Thomas S. Metkus, MD, Assistant Professor of Medicine and Surgery, Johns Hopkins University School of Medicine, Baltimore, MD. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
更新者：托马斯·S·梅特库斯，医学博士，约翰·霍普金斯大学医学院医学与外科助理教授，巴尔的摩，马里兰州。另由大卫·C·达格代尔，医学博士，医学主任，布伦达·科纳韦，编辑总监及 A.D.A.M.编辑团队复核。