Brief overview Marfan syndrome
- Diagnosis: A suspected diagnosis usually results from the findings of the physical examination; genetic testing is necessary to confirm the diagnosis.
- Prognosis: Life expectancy is often normal nowadays, but regular check-ups, especially with a cardiologist, are very important.
- Symptoms: Changes in the heart, especially dilatation of the aorta, changes in the skeleton, for example tall stature and spider fingers, changes in the eye.
- Causes and risk factors: Caused by genetic changes, usually inherited from one parent, but sometimes developing spontaneously.
- Treatment: The disease is not curable, treatment aims to prevent or contain complications.
- Prevention: Since it is a genetic change, it is not possible to prevent the disease.
What is Marfan syndrome?
A spontaneously developed Marfan syndrome is present in about 25 to 30 percent of those affected. In total, one to five out of 10,000 people in the population are affected by Marfan syndrome. There is no difference between the sexes.
The mutation that causes Marfan syndrome is located on chromosome 15 and affects the so-called FBN1 gene. This gene is responsible for the formation of a connective tissue protein, fibrillin-1. Fibrillin-1 is important for the stability of connective tissue. If its formation is limited by the mutation, the connective tissue loses stability.
How does the doctor diagnose Marfan syndrome?
Marfan syndrome is often diagnosed by a pediatrician. Overall, however, various specialists play a role in diagnosis, treatment and consultation. In addition to the pediatrician, these include human geneticists, cardiologists, orthopedists and ophthalmologists. Prior to diagnosis, the physician asks the parents or the affected person in detail about the history of the disease (anamnesis). For example, he will ask whether any family members already suffer from Marfan syndrome, whether heart palpitations occur at times, or whether there is myopia.
The doctor then examines the patient physically. He looks particularly closely at the skeleton. He pays attention to the length of the individual bones, the shape of the rib cage and the shape of the face. He then listens to the heart and lungs. People with Marfan syndrome often experience cardiac arrhythmias or murmurs over the aorta.
In order to make the diagnosis of Marfan syndrome, the so-called gene criteria are also important. These list various symptoms of the disease in varying degrees of severity. The diagnosis is considered confirmed when a certain number of criteria are met.
In addition, a genetic Marfan syndrome test is possible. In this, the genetic material is analyzed and the mutation responsible for the disease is searched for. If cases of Marfan syndrome have occurred in a family, appropriate diagnosis is possible before birth.
Complementary tests for Marfan syndrome
People with Marfan syndrome often have particularly long, narrow fingers. Spider fineness can be detected with two simple tests:
- In the second test, the affected person grasps his own wrist with his hand. In people with spider fingers, the end phalanx of the little finger overhangs that of the thumb (Walker sign).
Marfan diagnosis in childhood
In principle, the diagnosis of Marfan syndrome is already possible in babies or children. However, it may be more difficult to make because many signs are not yet pronounced in childhood and only develop over time.
What is the life expectancy in Marfan syndrome?
The course of Marfan syndrome varies greatly from person to person. Some affected individuals have hardly any signs, while others have the full range of possible symptoms. However, life expectancy and quality of life are almost unrestricted in Marfan syndrome today. This is true at least if the sufferers receive optimal medical care. Untreated, the life expectancy of people with Marfan syndrome averages about 40 to 50 years.
Complications of the cardiovascular system
About 80 out of 100 sufferers survive the aortic rupture thanks to this emergency operation. Aortic dissection is particularly common around the age of 30. Regular check-ups with a cardiologist can reduce the risk.
In addition, patients often suffer from damage to the heart valves, such as aortic valve insufficiency and mitral valve insufficiency. These promote cardiac arrhythmias. Furthermore, they are at risk of developing inflammation of the heart (endocarditis) and heart failure.
Complications in other organs
Frequently, Marfan syndrome also causes changes in the eye. These mainly affect the lens, which is often displaced (lens ectopy). As a result, affected individuals are at risk of blindness. Another risk factor for blindness is myopia. It is caused by an eyeball that is too long. This change also favors retinal detachment.
In addition, in some people with Marfan syndrome, the intraocular pressure is elevated (“glaucoma”) or the lens is clouded (“cataract”). Regular check-ups by an ophthalmologist are therefore advisable.
In the course of life, a so-called duraectasia forms in some cases. This is a dilation of the meninges, usually at the level of the lumbar spine. It is often asymptomatic. In some cases, however, it causes pain when the dilated meninges press on the exiting spinal cord nerves.
Symptoms
Symptoms in Marfan syndrome vary widely and differ in severity in individual patients. Even in the same family, the signs may differ significantly in affected family members. Despite the same mutation, one affected person may have hardly any symptoms, while a sibling shows the full picture of Marfan syndrome. Various organ systems are affected by the disease. The most common are changes in the cardiovascular system, the skeleton and the eye.
Changes in the skeleton
In addition, many affected individuals have deformities of the rib cage such as a chicken or funnel chest. As further skeletal changes, they often suffer from scoliosis, a curvature and twisting of the spine. Deformities of the feet (flat feet, bowed feet or flat feet) also occur.
The head is often longer than usual in people with Marfan syndrome (long skull). The face is also affected in some cases because the facial bones, especially the zygomatic bone and upper jaw, are underdeveloped. Often the eyelid axis slopes to the side. The palate is particularly high in some affected individuals and there is malocclusion of the teeth.
Causes and risk factors
Dominant means that the disease always appears: in principle, every person has two copies of each gene. in some cases, however, one healthy gene copy is sufficient. A disease then only appears if both genes are altered. This is not the case with Marfan syndrome: affected individuals always become ill, even if only one of the two gene copies shows a change. In this case, the still intact gene is not able to compensate for the defect.
When a patient with Marfan syndrome has a child, he or she inherits either the altered or the healthy gene. This means that the probability of transmission is 50 percent. Due to autosomal dominant inheritance, a child born to a parent with Marfan syndrome therefore has a 50 percent chance of developing the disease.
Parents who already have a child with Marfan syndrome or know that one of their partners suffers from Marfan syndrome should seek advice from a human geneticist before planning a pregnancy.
Treatment
The most important thing here is cardiological monitoring. During the annual ultrasound examination of the heart, the doctor checks how much the aorta is dilated and how quickly the vessel widens. Beta-blockers, drugs that lower blood pressure, counteract aortic dilatation. However, surgery may be needed to prevent aortic rupture.
Other surgeries that may be necessary for Marfan syndrome include.
- a scoliosis correction
- a correction of the chest
- a lens removal
Prevention
Since Marfan syndrome is genetic, the disease cannot be prevented. In order to prevent complications or to alleviate the health consequences, those affected should attend regular check-ups with the various specialists. If acute symptoms occur or existing symptoms worsen significantly, it makes sense to see a doctor immediately.
Experts also advise against heavy physical exertion, such as very heavy lifting or even strength or contact sports. The reason is that such stresses increase the likelihood of an aortic rupture.
