On Marfan Syndrome: The “Genius Disease” Theory

Men are seven feet five inches tall, with their hands hanging down to their knees, and they look majestic; women have slim waists and slender limbs, and are praised and envied by everyone. The advantages of their body shapes given by nature make them look so outstanding. Little do people know that these "outstanding" phenotypes are most likely due to a congenital genetic disease - Marfan syndrome ( MFS ).

In real life, many Marfan syndrome patients are actually very close to us.

Huo Xuan, the former captain of Henan women's volleyball team and a member of the women's volleyball national team, died in Zhengzhou at the age of 28 due to ineffective rescue for myocardial infarction. Genius violinist Paganini, whose body seemed to be built for violin, was known as the "devil" of music, but was entangled in illness throughout his life. Flora Heyman, a famous American women's volleyball player, died suddenly in a game in Japan at the age of 31. They have one thing in common, that is, they are all patients with Marfan syndrome .

Marfan syndrome, known as the "genius disease", is like a devil in angel's clothing. It gives talents generously, but also reaps lives silently.

1. How to discover Marfan syndrome

(1) Careful observation shows that it has significant disease characteristics

Eyes: Ectopic lenticule occurs.

Bones: Excessive growth, manifested as tall stature, long arms, long legs, long hands, long feet, funnel chest, pigeon chest and scoliosis, etc.

Cardiovascular system: prone to aortic aneurysm, leading to complications such as aortic dissection. If surgery is not performed in time, the aorta will enter a "bomb-like" state. Once it explodes, the most direct consequence is that blood rushes into the chest cavity, causing a large amount of blood loss in the heart. At this time, the heart will lose rhythm within about 10 seconds due to lack of blood. Even if you lie on the operating table, there is basically no chance of rescue. It is extremely dangerous and life-threatening!

Key points: The symptoms of this disease are not consistent in each patient, and many people do not have any obvious abnormalities at first, and the condition gradually worsens with age. If it can be taken seriously in the early stage and a detailed and scientific examination is carried out, early detection, early diagnosis and early treatment can be achieved.

(2) Check family history

Marfan syndrome is an autosomal dominant genetic disease (a disease can be caused by mutations in either the genetic material inherited from the father or the mother). It has a familial inheritance characteristic, with equal incidence rates for both sexes, and can occur in every generation . At the same time, if one parent is ill and carries a pathogenic/likely pathogenic variant, the risk of their children suffering from the disease is theoretically 50% .

Key points: Clinical diagnosis shows that genetic testing can be used to screen family members of Marfan syndrome. The collection of information such as clinical symptoms, risk factors, comorbidities and family history of aortic events can help doctors make clear diagnoses, choose treatment decisions and judge prognosis.

(3) Clinical examinations such as electrocardiogram and echocardiogram

Choose appropriate aortic examination methods and related auxiliary examinations other than cardiovascular examinations. Electrocardiography (ECG) is a must-do examination for patients with acute chest pain. Transthoracic echocardiography (TTE) is the main method for monitoring abnormalities of the patient's cardiac structure and proximal aorta. Of course, there are other auxiliary examinations such as magnetic resonance imaging (MRI) of the entire aorta and even the peripheral arterial system. The doctor will conduct a detailed assessment based on the patient's condition and choose a more targeted examination.

Key points: The three main signs of eye, bone, and cardiovascular diseases and family history are the main diagnostic criteria. A diagnosis can be established if two or more of them are met. The doctor will also arrange a number of related examinations to clarify the stage of disease development.

2. What should I do if I am a patient with Marfan syndrome?

(1) Early treatment

Eye treatment : Ectopic lenticule seriously impairs vision, especially in patients with cataracts, who should undergo lens removal.

Skeletal system treatment : Bracing is the preferred method for non-surgical treatment of scoliosis, and surgical treatment is suitable for patients with obvious spinal curvature.

Cardiovascular system treatment : For patients with mild aortic root dilatation or early aortic aneurysm, beta-blockers (or) angiotensin receptor blockers can be used to reduce cardiac output (CO), or losartan can be taken to reduce the activity of transforming growth factor-β to prevent aortic aneurysm. For surgical patients, ascending aorta replacement with aortic valve prosthesis (Bentall surgery) has become the preferred surgical method for treating cardiovascular diseases in Marfan syndrome.

Key points: Early treatment can slow down the occurrence of severe phenotypic lesions, prolong the life expectancy of patients with Marfan syndrome, and greatly improve their quality of life. The timing and method of surgery should be decided based on the doctor's advice , but patients also have the right to know and choose.

(2) Follow your doctor’s advice and have regular checkups

Marfan syndrome often affects the cardiovascular system and can cause a variety of serious complications. 95% of patients die from cardiovascular complications, most commonly aneurysm rupture and congestive heart failure. Patients should follow their doctor's advice and follow up on the development of cardiovascular diseases such as aortic dilatation.

Key points: If aortic dissection ruptures, the probability of immediate death is 25%, and the probability of death increases by 1% every hour thereafter. This is a serious threat to the patient's life , so it is very important to track and observe the development of cardiovascular diseases such as aortic dilatation.

(3) Eat a healthy diet, exercise moderately, and have an optimistic attitude to rebuild your confidence in life

The diet should be light, low in salt, low in fat, and rich in fiber, and avoid overeating. Indigestible food or excessive eating can increase gastrointestinal blood flow, thereby increasing the cardiovascular burden.

Exercise is important for patients with Marfan syndrome, but it varies from person to person and should be done under the advice of a doctor . Moderate exercise can increase physical tolerance, reduce weight, regulate metabolism and gastrointestinal function, and increase bone density and physical strength.

Maintain a good attitude and avoid excessive psychological pressure caused by mental tension, emotional excitement, anxiety, etc.

Key points: Early diagnosis and early treatment of Marfan syndrome patients are effective ways to reduce morbidity and mortality.

3. How can I prevent it?

(1) Genetic testing

Genetic testing of patients who are clinically diagnosed or suspected of having Marfan syndrome can assist in the clinical diagnosis and differential diagnosis, guide clinical diagnosis and treatment , and select the appropriate time and method of intervention. After a clear pathogenic/potential pathogenic mutation is found in the patient, the mutation can be screened in all of his/her immediate family members to identify high-risk relatives with a high risk of carrying the pathogenic/potential pathogenic mutation , so that relevant clinical examinations can be performed regularly to achieve early intervention and treatment and avoid the occurrence of malignant cardiovascular events. In addition, genetic testing can also guide eugenics. For example, patients with Marfan syndrome who have fertility plans should go to qualified prenatal screening institutions for screening to reduce the risk of disease in their offspring and give birth to healthy babies.

(2) Genetic counseling

According to the autosomal dominant inheritance mode of Marfan syndrome and the results of genetic testing, patients can seek genetic testing and genetic counseling services provided by professional institutions according to their own needs, or they can choose efficient and fast consultation methods such as offline and Internet hospitals, and have doctors develop corresponding diagnosis and treatment plans and provide precision medical services.

Key points: With the rapid development of medical technology today, we no longer have to leave everything to fate, let alone pray for good luck and avoid disaster. As long as we believe in science, look at diseases correctly and objectively, and actively cooperate with doctors for treatment, our health is ultimately in our own hands.

Seeking truth and accuracy, being precise and precise, this is the eternal truth of medicine. In the era of precision medicine, no one is a bystander. Please pay attention to Marfan syndrome.

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