How can I tell if I have Marfan syndrome?

Marfan syndrome has two main features: one is vision problems caused by lens dislocation, which can affect one or both eyes. Second, it is accompanied by congenital cardiovascular malformations.

The aorta becomes thin and elongated, which can lead to a bulge in the walls of the blood vessels (aneurysm). Stretching of the aorta causes a crack in the aortic valve, which can lead to a sudden tear in the middle of the aortic wall (aortic dissection), which can be life-threatening and dangerous. The identification of the pathogenic gene of Marfan syndrome can accurately and quickly identify the genetic cause of the patient's disease, and find and design the best plan according to the pathogenic gene.

Prerequisites for the diagnosis of Marfan syndrome.

In selected cases, if there is no family or genetic history, at least two major criteria for different systems and one-third organ involvement are required; If a mutation in the gene known for Marfan syndrome is detected, the diagnosis is made by the presence of one primary criterion and a second systemic involvement in one system.

Conditions to be differentiated from Marfan syndrome.

1. Congenital contracture spider dactyly;

2. Familial thoracic aortic aneurysm, formerly known as Edheim cystic mid-layer necrosis;

3. Familial aortic dissection;

4. Familial lens dislocation;

5. Familial equine-like body type;

6. Familial mitral valve prolapse syndrome;

7. Shprintzen-Goldberg syndrome.

For family members of selected cases: diagnosis is made by the presence of one primary criterion in the family history, one primary criterion of one system, and involvement of a second system.

Cardiac ultrasonography or CT scan.

Marfan syndrome is an inherited connective tissue disorder in which a genetic mutation occurs on chromosome 15. People with Marfan syndrome can be tested to prevent extreme events, and it is recommended that people with a family history of Marfan syndrome should go to the cardiovascular surgery department for a check-up. Early detection through cardiac ultrasonography or CT examination to avoid heart failure, aortic rupture and myocardial infarction.

5. If Marfan syndrome is to be further diagnosed, an MRI is required.

Magnetic resonance imaging (MRI) refers to magnetic resonance imaging (MRI), which is a type of imaging equipment made by using the phenomenon of nuclear magnetic resonance for medical examination. Magnetic resonance imaging can not only examine the facial features, but also check for lesions such as cardiac agent macrovascular malformation, which is one of the main tests for judging Marfan syndrome.

Summary. Hello, the easiest way to suspect Marfan syndrome is echocardiology**, which can be performed by anyone who has doubts, and MRI (magnetic resonance imaging) is required to confirm the diagnosis. There are many diagnostic methods for Marfan syndrome, such as the patient will have chicken breast, then pectus excavatum, when pectus excavatum appears, surgical correction is required, and then the proportion of the upper volume is reduced compared to the lower amount, or the ratio of the span length ratio of the upper limb to the height is greater than that, these can all appear, because the clinical manifestations are because of the slenderness of the fingers and the slenderness of the toes; Then there is scoliosis of 20°, or the spine moves forward; Then the abduction of the elbow joint is reduced, not completely, less than 170°; Then the ankle joint is displaced, and the flat foot is formed; Then there is acetabular protrusion and hip inversion, which can generally be determined by X-ray.

Most patients with Marfan syndrome have a high degree of myopia, and if these criteria are met, Marfan syndrome can be diagnosed.

Counseling on how to test for suspected Marfan syndrome.

Hello, the easiest way to suspect Marfan syndrome is echocardiology**, which can be performed by anyone who has doubts, and MRI (magnetic resonance imaging) is required to confirm the diagnosis. There are many diagnostic methods for Marfan syndrome, such as the patient will have chicken breast, then pectus excavatum, when pectus excavatum appears, surgical correction is required, and then the proportion of the upper volume is reduced compared to the lower amount, or the ratio of the span length ratio of the upper limb to the height is greater than that, these can all appear, because the clinical manifestations are because of the slenderness of the fingers and the slenderness of the toes; Then there is scoliosis of 20°, or the spine moves forward; Then the abduction of the elbow joint is reduced, not completely, less than 170°; Then the ankle joint is displaced, and the flat foot is formed; Then there is acetabular protrusion and hip inversion, which can generally be determined by X-ray. Most patients with Marfan syndrome have a high degree of myopia, and if these criteria are met, Marfan syndrome can be diagnosed.

Marfan syndrome is an inherited connective tissue disease, which is inherited in an autosomal dominant manner, and the patients with the disease are characterized by uneven elongation of limbs, fingers and toes, and their height is significantly beyond ordinary people, accompanied by abnormalities of the cardiovascular system, especially combined heart valve abnormalities and aortic aneurysms, which may also affect other organs including the lungs, eyes, dura mater, etc. Once Marfan syndrome appears, the diet should be light, drink more water, eat more fruits, and eat fruits to keep the stool smooth. Don't eat hot foods such as deer antler velvet and cinnamon, and eat more foods that nourish yin and clear away heat.

1. The musculoskeletal system mainly has slender limbs, spider fingers (toes), the distance between the arms is greater than the length of the body, the hands hang down above the knees, and the upper body is longer than the lower body. Longocedence, narrow face, high palatal arch, large and low ears. There is little subcutaneous fat, underdeveloped muscles, and wrinkles in the chest, abdomen, and arms.

Low muscle tone and weakness. Ligaments, tendons, and joint capsules are elongated and relaxed, and joints are hyperextended. Sometimes pectus excavatum, chicken breast, kyphosis, scoliosis, spina bifida, etc.

2. Eyes mainly include lens dislocation or subluxation, high myopia, cataract, retinal detachment, iris tremor, etc. There are more males than females. 3. Cardiovascular system About 80% of patients have congenital cardiovascular malformations.

Progressive dilation of the aorta, aortic regurgitation, aortic sinus aneurysm, dissection aneurysm, and rupture due to cystic necrosis of the middle layer of the aorta are common. Mitral valve prolapse, mitral regurgitation, and tricuspid regurgitation are also important manifestations. Congenital atrial septal defect, ventricular septal defect, Fallot's tetralogy, patent ductus arteriosus, coarctation of the aorta and so on may be combined.

It can also be combined with various arrhythmias such as conduction block, pre-excitation syndrome, atrial fibrillation, atrial flutter, etc.

1. Skeletal abnormalities.

The most characteristic manifestation of Marfan syndrome is skeletal abnormalities, such as a tall stature and slender limbs. People with Marfan syndrome usually have longer limbs than ordinary people, and their palms, fingers, and toes resemble the limbs of spiders, and when the hands are drooping, they can be longer than the knees.

2. Muscle abnormalities.

After the occurrence of the disease, the patient has less subcutaneous fat, and the muscles are not developed enough, and the abdomen, chest and arms will show certain wrinkles. In addition, patients with Marfan syndrome have low muscle tone, elongation or relaxation of ligaments, tendons and joint capsules, and sometimes symptoms such as chicken breasts and pectus excavatum.

3. Ocular abnormalities.

In patients with Marfan syndrome, the lens of the eye may have subluxation or dislocation, high myopia, cataracts, iris tremor, and retinal detachment, which is more common in men than in women.

4. Cardiovascular abnormalities.

About 80% of patients with this disease are accompanied by congenital cardiovascular malformations, and important manifestations such as progressive arterial dilation, aortic regurgitation, mitral valve prolapse, mitral regurgitation, and tricuspid regurgitation are common.

Summary. Disease analysis: Marfan syndrome is a hereditary disease, mainly caused by heredity, the biggest feature is that the bone development is different from ordinary people, the height is relatively high, it is difficult to complete some difficult actions, affecting the life expectancy of individuals, and will suffer from cardiovascular and cerebrovascular diseases, but the IQ of children with Marfan syndrome is higher than that of ordinary children, after effective **, they can achieve the ability to take care of themselves, so we should follow the principle of early soft tissue release, and then adhere to physical ** Very good results can be achieved.

Hello, I have seen your question and am sorting out the answer, please wait for a while Condition analysis: Marfan syndrome is a hereditary disease, mainly caused by genetics, the biggest feature is that the bone development is different from ordinary people, the height is relatively high, it is difficult to complete some difficult actions, affecting the life expectancy of individuals, and will suffer from cardiovascular and cerebrovascular diseases, but the IQ of children with Marfan syndrome is higher than that of ordinary children. Therefore, we should follow the principle of taking soft tissue release at an early stage, and then adhere to the physical principle to achieve good results.