Introduction to Marfan syndrome and the significance of its causative gene testing

  Marfan syndrome is a systemic connective tissue disease that mainly involves the cardiovascular system (aortic aneurysm, aortic coarctation, valvular lesions, etc.), eyes (lens ectasia, retinal exfoliation, early onset myopia, etc.) and bones (thin and tall, overgrown limbs, hypermobile joints, thoracic deformity, scoliosis, etc.), but also other organs or systems such as lung, dura mater, skin, etc. It may have different patient different presentations. Among them, lesions of the cardiovascular system such as aortic aneurysm and aortic coarctation are the most important causes that affect the life expectancy of patients.  As a genetic disease, the clinical manifestations of Marfan syndrome are influenced by multiple factors and the mechanisms are complex. However, in short, the disease is autosomal dominant and is theoretically passed on to the next generation through natural reproduction without medical treatment prior to pregnancy at a rate of 50%, with no gender differences. In addition, about a quarter of people with Marfan syndrome are caused by a de novo genetic mutation, which is the cause of the disease in children whose parents do not have the disease. The percentage of children who continue to pass on the disease to their next generation is also 50%, and if left untreated, families with Marfan syndrome may gradually form.  Medical technology has developed rapidly in the last decade or so, and the most important causes of life expectancy in patients with Marfan syndrome – aortic aneurysms and aortic coarctation – have been able to achieve very high surgical success rates in experienced hospitals. As a result, with aggressive and effective treatment, patients with Marfan syndrome can have a life expectancy close to that of a normal person.  Molecular diagnosis (pathogenic gene testing) is recommended for all family members with a family history of the disease, and once a clear genetic mutation locus is identified, the inheritance of that pathogenic locus can be avoided by medical means.  The significance of genetic testing] Early diagnosis and prolonged life span: A small amount of venous blood is taken for genetic testing, which can confirm the diagnosis of the patient at the molecular level and guide the subsequent treatment. Screening for relatives who have a family history but do not exhibit symptoms, to obtain a diagnosis before the onset of the disease and avoid late detection and poor treatment. If genetic testing confirms carrying pathogenic gene mutation loci, avoid strenuous exercise, regular physical examinations (e.g., ultrasound examination of the heart and aorta), and timely surgery if indications for surgery are met to avoid cardiovascular emergencies.  Eugenics, avoiding heredity: the offspring of patients with Marfan syndrome have a 1/2 risk of inheriting the disease. Patients who are clearly diagnosed as carrying a pathogenic gene mutation locus can use modern medical technology to avoid inheritance of this gene mutation locus during pregnancy and childbirth.