什么是马凡氏综合征?
马凡氏综合征是一种遗传性疾病. It occurs because of a mutation (change) in one of your genes that develops before you’re born. 这是一种结缔组织紊乱, meaning it affects the structures (connective tissues) that hold different parts of the body together. It can affect many different organs and tissues throughout your body. 马凡氏综合征并不常见. 专家估计，每5000人中只有1人受到影响.
Your symptoms will vary depending on the type of gene mutation you have. But in general, Marfan syndrome often affects the following body parts:
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血管
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骨头
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眼睛
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心
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肺
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皮肤。
什么导致马凡氏综合征?
纤维蛋白1 （FBN1）基因突变导致马凡氏综合征. The FBN1 gene helps provide your connective tissues with strength and flexibility.
马凡氏综合征如何影响心脏?
People with Marfan syndrome may have a higher risk of these 心 problems:
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主动脉瘤 是在你身体最大的血管（主动脉）壁上的凸起。.
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Mitral valve prolapse happens when the valve (gate) between your 心’s upper and lower left 心 chambers (ventricles) doesn’t close properly.
马凡氏综合征心脏症状
Many people with Marfan syndrome who have 心 problems experience no symptoms. 如果你有二尖瓣脱垂，你的专科医生可能会注意到 心杂音 当他们用听诊器听你的胸部时. This may lead to a mitral valve prolapse diagnosis before you ever experience symptoms.
If mitral valve prolapse progresses without treatment, you may experience these symptoms:
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乏力
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脚部、脚踝和腿部肿胀
动脉瘤患者没有任何症状. You typically won’t know you have an aortic aneurysm unless your specialist notices the aneurysm during 成像 for something else.
马凡氏综合征特征
马凡氏症患者通常又高又瘦. 他们通常也会有异常长的四肢、手指和脚趾.
马凡氏综合征是如何遗传的?
你通过常染色体显性模式遗传马凡氏综合征. This means just one parent needs to have the gene mutation for a child to inherit the syndrome. If you have Marfan syndrome, you have a 50% chance of passing the syndrome to your child.
马凡氏综合征基因检测
You should receive genetic testing for Marfan syndrome if someone in your family has the condition. Genetic screening of all your family members is an important part of Marfan syndrome treatment. Detecting and diagnosing the condition early can lead to earlier detection of potential complications and better long-term management.
马凡氏综合征何时出现?
It’s more common to notice symptoms of Marfan syndrome in teens and adults. Parents with a known history of Marfan syndrome may choose to have their children screened for the condition at an earlier age. But it’s not one of the conditions that specialists screen for routinely in all infants.
马凡氏综合征的检测与诊断
Diagnosing Marfan syndrome involves a blood test for an FBN1 gene mutation. Some people get this blood test because they have a known family history of Marfan syndrome. Others get it when their specialist notices signs of Marfan syndrome, 比如心脏杂音或视力改变.
找一位主动脉疾病外科医生
马凡氏综合征治疗
Marfan syndrome treatment varies widely depending on what symptoms you have. 如果你有轻微的症状, you won’t need any treatment other than routine screenings to check for complications:
因为马凡氏综合征的症状范围很广, 您的护理涉及到一个多元化的专家团队：
Screening with all of these specialists will help ensure that you find complications of Marfan syndrome early. 此外，您可能需要 成像:
马凡氏综合征的主动脉夹层
An 主动脉夹层 是动脉瘤的并发症吗. It occurs when a small tear in your aorta causes blood to leak between your aortic wall's inner and outer layers. 如果眼泪破裂，可能会导致危及生命的出血.
The size of the aortic aneurysm affects your risk of 主动脉夹层. Your cardiologist will monitor you to evaluate your risk of 主动脉夹层. They may perform procedures to repair the aortic aneurysm if your dissection risk is high.
马凡氏综合症预期寿命
马凡氏综合征会导致寿命缩短. Treatment with a multispecialty team of experts can significantly improve your life expectancy. Your treatment team will help you understand how your symptoms and the potential complications of Marfan syndrome could affect your lifespan.
为什么选择大发娱乐?
At U of U Health, you have access to an entire team of specialists who collaborates on your care. 大发娱乐治疗从出生到成年的病人, 共同制定最有效的管理计划. Our team meets regularly to discuss the best care options for each patient. 如果需要，您可以在一次就诊期间看到多位专家.
Our physicians are involved in national and international groups to study Marfan syndrome and other genetic diseases. 大发娱乐研究并掌握最新的治疗方法, 不断为您大发娱乐提供最新的产品, 最有效的治疗方法.
安排预约
成人先天性心脏病专家 管理影响心脏的马凡氏综合征患者. 呼叫 801-585-7676 to schedule an appointment with the adult congenital 心 disease team. Referrals aren’t required, but you may want to check if your insurance requires one.
认识大发娱乐的病人
主动脉疾病的临床试验
TREO临床研究
The purpose of this research is to help determine the long-term performance of the TREO Abdominal Stent-Graft as a treatment for patients with AAA.
这项研究已不再招募，但仍在进行中.
其他临床试验
The 主动脉瓣疾病 Program has additional clinical trials in progress:
- GREAT：血管内主动脉治疗全球注册
- stabable: Nectero EAST系统临床研究（正在招募）
