What are the symptoms of Marfan syndrome?

Jan 20, 2025 Source: Cainiu Health

Dr. Tian Hongbo

Introduction

In general, Marfan syndrome refers to a type of autosomal dominant hereditary connective tissue disorder. The symptoms mainly include cardiovascular system abnormalities, skeletal system disorders, ocular symptoms, skin abnormalities, and symptoms related to muscles and joints. These symptoms may appear individually or simultaneously, and their severity may vary.

Generally speaking, Marfan syndrome refers to Marfan syndrome, which is an autosomal dominant hereditary connective tissue disorder. The symptoms mainly include cardiovascular symptoms, skeletal system abnormalities, ocular symptoms, skin abnormalities, and symptoms related to muscles and joints. The specific manifestations are as follows:

1. Cardiovascular Symptoms

Patients with Marfan syndrome may have aortic root dilation and aortic valve insufficiency, presenting with heart murmurs, palpitations, and dyspnea. Some patients may experience severe pain and even shock.

2. Skeletal System Abnormalities

Patients with Marfan syndrome are typically tall and slender, with disproportionately long limbs and fingers and toes, presenting the classic "spider-like" digital changes. Joint laxity and spinal deformities such as scoliosis or kyphosis may also occur, resulting in an overall appearance different from that of unaffected individuals.

3. Ocular Symptoms

Marfan syndrome patients may develop lens dislocation or subluxation, leading to blurred vision, myopia, or astigmatism. If accompanied by poor development of the extraocular muscles, diplopia or strabismus may occur.

4. Skin Abnormalities

Patients with Marfan syndrome may exhibit spider angiomas, rashes, purpura, and other skin symptoms. Due to connective tissue abnormalities, the skin becomes fragile, prone to injury and inflammation, and wound healing is delayed.

5. Muscular and Joint Symptoms

Patients with Marfan syndrome may experience decreased muscle tone, underdeveloped muscles, joint laxity, and elongated joint capsules, leading to muscle weakness, fatigue, joint hyperextensibility, and joint dislocations.

These symptoms may appear individually or simultaneously, with varying severity. Patients should undergo regular physical examinations to detect and manage potential health issues as early as possible.

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When do eye problems occur in Marfan syndrome?

In general, Marfan syndrome, also known as Marchesani syndrome, is associated with varying individual differences in the timing of eye-related problems. Some patients experience rapid growth and development and may encounter eye issues during childhood or adolescence. Others have slower growth rates and may not notice eye-related problems until the disease progresses to a certain stage.

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Why does Marfan syndrome cause arterial dissection?

Marfan syndrome, also known as Marfan syndrome, is associated with an increased risk of arterial dissection due to several factors including genetic predisposition, fragile connective tissue, aortic root aneurysm, abnormal vascular wall structure, and hemodynamic changes. Therefore, patients with Marfan syndrome need to closely monitor their cardiovascular health and promptly diagnose and treat potential risks of arterial dissection.

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What is the progression of Marfan syndrome from childhood to adulthood?

Marfan syndrome is a hereditary connective tissue disorder whose progression is typically associated with the patient's growth and development, including childhood, adolescence, and adulthood, gradually manifesting a series of symptoms as age increases. Currently, there is no specific treatment for Marfan syndrome; however, interventions such as medication and surgery can be employed to slow disease progression and reduce the risk of complications.

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What are the cardiac characteristics of Marfan syndrome?

In general, Marfan syndrome refers to a genetic disorder that is inherited in an autosomal dominant pattern. Cardiac features of Marfan syndrome include aortic root dilation, aortic valve insufficiency, cardiac valve abnormalities, cardiomegaly, and arrhythmias. Patients should undergo regular physical examinations to detect and address potential health issues at an early stage.