Marfan syndrome is a rare hereditary connective tissue disorder that primarily affects the heart, eyes, and skeletal system. This condition is caused by genetic mutations that lead to abnormalities in the elastic fibers of various tissues in the body, resulting in organ dysfunction and structural weakness. Common symptoms include elongated limbs, cardiovascular abnormalities, and vision problems, which can be life-threatening in severe cases.
This syndrome was first described in 1896 by French physician Antoine Marfan and is now classified as a key type of connective tissue disease. Approximately one in every 5,000 to 10,000 people worldwide is affected, with a similar incidence in both genders. Although there is currently no cure, early diagnosis and regular monitoring can effectively control symptoms and delay the progression of complications.
The primary cause of Marfan syndrome is a mutation in the FBN1 gene, which encodes a protein called fibrillin-1. This protein is an essential component of connective tissue, and when its structure is abnormal, it leads to impaired strength and elasticity of connective tissues throughout the body. About 75-80% of patients have a hereditary form, while the remainder are due to new mutations.
The inheritance pattern is primarily autosomal dominant, meaning that inheriting the mutated gene from just one parent can lead to the condition. However, the severity of the phenotype can vary among individuals, even among members of the same family. Environmental factors such as pregnancy, intense physical activity, or stress may trigger the exacerbation of cardiovascular complications.
Risk factors include:
Symptoms exhibit a high degree of variability and can affect connective tissues throughout the body. Major symptoms can be categorized into three systems:
Other common symptoms include:
The rate of symptom progression varies among individuals; some patients may experience no significant deterioration for decades, but cardiovascular complications can still suddenly worsen. Regular echocardiographic follow-up is an important tool for assessing disease progression.
Diagnosis requires a combination of clinical evaluation and auxiliary examinations. Diagnostic criteria include:
Clinical evaluation includes detailed family history inquiry and a comprehensive physical examination. Cardiac auscultation may reveal murmurs, ophthalmologic examinations may detect abnormal lens positioning, and X-rays may show scoliosis or thoracic abnormalities. Other connective tissue diseases with similar symptoms must be ruled out during diagnosis.
The accuracy of genetic testing is about 90%, but 10-20% of patients may have negative genetic tests yet exhibit typical symptoms, thus diagnosis must integrate multiple indicators. Special populations, such as those suspected of new mutations, may require expanded gene sequencing.
The treatment goal is to control symptoms, prevent complications, and delay disease progression. Non-surgical treatments include:
Surgical treatments primarily include:
Long-term management requires interdisciplinary teamwork, including cardiology, ophthalmology, orthopedics, and genetics specialists. Patients should undergo echocardiographic follow-up every 6 to 12 months and have regular ophthalmologic examinations. Lifestyle modifications such as smoking cessation and blood pressure control are fundamental management components.
Genetic prevention is a key measure. Known family members of patients should receive genetic counseling and testing, and pregnant women may undergo amniocentesis for prenatal diagnosis. High-risk families can utilize genetic counseling to plan reproductive strategies.
Symptomatic prevention includes:
In terms of managing environmental factors, avoiding tobacco exposure is essential to protect cardiovascular health, and controlling comorbidities such as diabetes and hypertension is crucial, as these conditions can accelerate connective tissue degeneration. Regular multidisciplinary team follow-up is key to maintaining quality of life.
Seek immediate medical attention if the following symptoms occur:
For suspected symptoms such as noticeably elongated limbs, scoliosis, or family history, a specialist evaluation should be arranged. If children are significantly taller than their peers and have vision problems, genetic counseling is recommended. For patients under regular follow-up, if the aortic diameter increases by more than 0.3-0.5 cm per year, immediate discussion with a cardiac surgeon regarding treatment plans is necessary.
It is advised to undergo multidisciplinary evaluations every 6-12 months, including tracking cardiac function, vision, and skeletal development. Cases suspected of new mutations should undergo genetic sequencing confirmation to establish personalized management plans.
Typical features of Marfan syndrome include elongated limbs, arachnodactyly, high myopia, or lens dislocation. If there are similar cases in the family or if an individual exhibits symptoms such as cardiac murmurs or scoliosis, it is advisable to seek medical attention for genetic testing and professional evaluation as soon as possible.
Why are cardiac valve abnormalities a fatal risk in Marfan syndrome?Patients often have accompanying aortic aneurysms or aortic dissection, and these structural heart abnormalities can lead to acute heart failure. Regular echocardiographic examinations can detect abnormalities early, and surgical repair of valves or the aorta can significantly reduce mortality risk.
What high-risk activities should be avoided in daily life?Patients should avoid activities that may increase aortic pressure, such as diving, weightlifting, and contact sports. Low-impact aerobic exercises like swimming or cycling are recommended, and it is advisable to consult a physician to develop a personalized exercise plan.
Will symptoms of Marfan syndrome worsen during pregnancy?Pregnancy may lead to increased blood volume and hemodynamic changes, placing additional strain on the aorta and increasing the risk of aortic dissection. A joint assessment of risks by cardiologists and obstetricians is necessary before pregnancy, and some patients may need to consider surgery before contemplating pregnancy.
Are there currently any medications that can directly stop the progression of Marfan syndrome?β-blockers (such as atenolol) can slow the rate of aortic dilation but cannot cure the genetic defect. Studies indicate that transforming growth factor receptor inhibitors may improve connective tissue lesions, but they are still in clinical trial stages and should be evaluated by a physician for use.
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