Marfan’s syndrome (also known as Marfan’s syndrome, or Marfan’s Syndrome), is an autosomal dominant connective tissue disorder. Patients can die prematurely due to cardiovascular pathology. The disease was first reported in 1896 by Antoine Marfan in France, and the causative gene mutation fragment was identified in 1991, but no cure for the disease has been found to date. Current treatment is limited to symptomatic treatment and improvement of quality of life.
First of all, let’s understand the complex name “autosomal dominant connective tissue disorder”.
1. “Autosomal” means that the disease has nothing to do with gender, and that men and women are equally likely to have the disease. It also has nothing to do with ethnicity or geography. It is now recognized that the abnormal gene is fibrillin-1 (FBN1), which is located on 15q21.1.
2. “Dominant inheritance” means that the disease is a genetic disease, and as long as the abnormal gene is “present” in the patient, the disease is bound to develop, without exception.
However, it should be clear that the manifestations of the disease vary widely from patient to patient, and the degree of clinical manifestations may vary greatly even among brothers.
Approximately 75% of patients inherit the disease from the affected parent. In another 25% of cases, the disease is inherited from a normal parent with an embryonic genetic mutation. This means that children do not necessarily have the disease when their parents have the disease. It is also not necessary that the child has the disease because the parents have the disease themselves.
If one parent has the disease, the chance of the offspring having the disease is 50%, which means that theoretically half of the children will be normal and half will have the disease. If both parents have the disease, the chances of the offspring having the disease are even higher.
3. “Connective tissue disease” means that the disease can involve the connective tissue of the whole body, specifically the cardiovascular system, the skeletal system, the lungs, the eyes, etc.
Let’s describe the common abnormalities of patients.
1. Cardiovascular system: It can lead to heart failure or aortic aneurysm rupture and endanger life. It is common to have decreased activity endurance, chest tightness, panic, shortness of breath and other symptoms. “Ultrasound examination of the heart can basically clarify the severity of the lesion, such as aortic dilatation to form aortic aneurysm, aortic regurgitation, and the presence of aortic coarctation (aortic tear).
2. Skeletal muscular system: Patients are more prone to fracture. Common abnormalities include elongated limbs, spider fingers (toes), arms extended flat on both sides of the fingertip distance more than the body length, hands drooping over the knees. Long head deformity, narrow face. Little subcutaneous fat, underdeveloped muscles, low muscle tone, and a powerless physique. The ligaments, tendons and joint capsules are elongated and relaxed, and the joints are hyperextended. Sometimes funnel chest, chicken chest, kyphosis, scoliosis, etc. are seen.
3.Eye: mainly high myopia, cataract, etc.
4.Lungs: mainly pulmonary maculopathy (may have spontaneous pneumothorax), bronchiectasis, emphysema, asthma. “Orthopantomogram or CT of the chest can clarify the lesion.
How to diagnose Marfan’s syndrome?
The initial diagnosis of the disease is based on the above clinical manifestations, but the manifestations vary greatly from patient to patient, and only very few patients have more than one of the above abnormalities. Most patients have only 1-3 of these abnormalities, so not all patients can be diagnosed by doctors. Therefore, as long as one person in the family has the disease, others who are related by blood are recommended to see a doctor for examination and consultation.
2. The same family can be diagnosed definitively by genetic tests, and abnormalities in the FBN1 gene (fibrillin-1 on 15q21.1 ) can be found in about 80% of the population. And the current genetic diagnosis only requires one blood draw, which is very easy and safe.
3. Prenatal diagnosis.
For couples with a sick father and a normal mother, prenatal diagnosis technology is available to select a healthy fertilized egg for implantation into the mother’s uterus through in vitro fertilization and genetic diagnosis. However, this technology does not yet provide 100% assurance that the fetus is free of the disease.
Although prenatal diagnosis is theoretically available for mothers with the disease, doctors often do not recommend pregnancy or childbirth because of the greater threat of death to the mother during pregnancy.
What about patients who have already been diagnosed?
1. Once a patient is diagnosed with Marfan’s syndrome, it is recommended that he or she be examined by a regular cardiologist, orthopedist, ophthalmologist, or respiratory physician immediately. The usual tests include cardiac ultrasound, chest X-ray or chest CT, and slit lamp examination of the eye.
2. Cardiovascular system: It is the most serious lesion of the disease. Common aortic dilatation (increasing year by year, forming aortic aneurysm), aortic valve closure insufficiency, heart enlargement, mitral valve closure insufficiency, arrhythmia, etc.. Long-term untreated heart failure and aortic coarctation can occur and become life-threatening.
Oral treatment with a “beta-blocker” (e.g., betalactam) is recommended for all patients to help reduce aortic tone and slow the heart rate, thereby slowing aortic dilation, at a dose to be determined by the cardiologist.
Antibiotics are recommended to prevent infective endocarditis in those with mitral valve insufficiency before undergoing any procedure with risk of infection, such as dental or urologic procedures.
It is recommended that all patients undergo regular lifelong (usually at least once a year) cardiac ultrasound examinations to assess the diameter of the aorta, and cardiac function classification.
When the aortic diameter is dilated to 125 px or more (112.5 px or more is also recommended), consult a cardiac surgeon for surgical treatment.
Even if there is no obvious discomfort, it is recommended that such patients avoid strenuous sports for life to reduce the chance of eye, bone, and cardiac system damage.
3. Lesions of the skeletal system: Thoracic deformities (funnel chest or chicken chest), scoliosis, and multiple fractures can often occur. Such conditions are difficult to prevent. It is recommended to consult an orthopedic surgeon at the onset.
4. Ophthalmology: Patients are often nearsighted and may present with lens dislocation or retinal detachment, which can be treated symptomatically by an ophthalmologist.
5.Lung: Spontaneous pneumothorax can occur in about 10% of patients during their lifetime and often occurs after strenuous exercise, so patients are not recommended to participate in strenuous sports (e.g. basketball, high jumping, diving, etc.).
6, fitness and sports advice: moderate exercise and fitness (such as walking, jogging, climbing, swimming, etc.) is beneficial to enhance the muscle and bone strength of patients and exercise heart function, please choose different types of sports according to your respective physical and fitness status. Competitive sports (such as long-distance running, weightlifting, ball games, etc.) should be avoided, and patients with attrition should stop exercising as soon as possible when there is obvious fatigue or a significant increase in heart rate during the activity (there is no clear indicator for this, so you need to gradually understand your own body and decide for yourself).
7, diet: a healthy diet, especially foods high in vitamins and minerals, helps the production of connective tissue.
8, smoking: smoking can reduce the synthesis of elastin, and further aggravate the lack of connective tissue throughout the body. Therefore, you should strictly quit smoking.
9, marriage and childbirth: as mentioned above, whether to marry, childbirth depends entirely on personal wishes. But please consider carefully before giving birth, your child may suffer more than you.
For couples where the father is sick and the mother is normal, prenatal diagnosis technology is available to select a healthy fertilized egg for implantation into the mother’s uterus by means of in vitro fertilization and genetic diagnosis. However, this technology is not widely available and there is no 100% guarantee that the fetus will be free of the disease.
Although prenatal diagnosis is theoretically available for mothers with the disease, doctors often do not recommend pregnancy or childbirth because of the greater threat of death to the mother during pregnancy.