Marfan syndrome

Marfan syndrome: description

Marfan syndrome is a genetic disease that is either transmitted from the parent to the child or occurs spontaneously. A spontaneously arising disease is also called a sporadic disease. This is true for about 25 to 30 percent of Marfan syndrome patients. Overall, one to five out of every 10,000 people in the population are affected by Marfan syndrome. There is no difference between the sexes.

Marfan syndrome: symptoms

The Marfan syndrome signs are very different and different degrees pronounced in individual patients. Even in the same family, the symptoms of Marfan syndrome can be very different in the affected family members. The disease affects various organ systems. Most common are changes in the

• Cardiovascular system
• skeleton
• eye

Marfan syndrome: cardiovascular system

Patients with Marfan syndrome are at an increased risk of sudden death. The reason for this is a frequently occurring tear in the wall of the main artery (aortic dissection). By forming a gap within the aortic wall, the blood is no longer transported into the smaller blood vessels, but seeps into the gaps. The risk of aortic dissection is increased in Marfan syndrome patients because their wall-weakened aorta progressively expands (progressive aortic dilatation).

In addition, patients often suffer from damage to the heart valves such as aortic valve and mitral valve insufficiency. These can lead to cardiac arrhythmia. Furthermore, they are at risk of developing inflammation of the heart (endocarditis) and heart failure.

Marfan syndrome: skeleton

Skeletal changes are often the first sign of Marfan syndrome. The patients are characterized by a tall growth and very narrow, long extremities. The Spinnenfingrigkeit (arachnodactyly) is a well-known symptom. The spider fingers are referred to as such because they are extremely long and narrow.

In addition, many patients have thoracic deformities such as a chicken or funnel chest. As other skeletal changes they often suffer from scoliosis, a bending and twisting of the spine. In addition, some patients have underdeveloped facial bones, such as the zygoma or upper jaw.

The totality of these skeletal changes is also called marfanoid habitus.

Marfan syndrome: eye

The changes in the eye due to Marfan syndrome mainly affect the lens. It is often relocated (lens ectopia). This threatens the patient blindness. Another risk factor for blindness is myopia. It is caused by a too long eyeball. This change can also lead to retinal detachment.

Marfan syndrome: symptoms on other organs

Marfan syndrome can damage other structures in addition to the organ systems mentioned. This includes, among other things, the lungs. Those affected are at an increased risk of suffering from pneumothorax. By this, physicians understand the separation of the lung fur from the pleura and the ingress of air into this gap. This condition can be life-threatening as the lung collapses in the appropriate area.

On the skin of patients with Marfan syndrome, one often sees stretch marks as signs of weak connective tissue.

In the course of life, a so-called Duraektasie can form. This is an extension of the meninges, usually at the level of the lumbar spine. It is often symptomless. In some cases, it can cause pain when the durasack presses on the spinal cord nerves.

Marfan syndrome: causes and risk factors

Marfan syndrome is an autosomal dominant hereditary disease. This means that there is a change (mutation) on one gene of our genetic material that triggers the disease. Autosomal dominant describes that this genetic information is on a non-gender-specific gene complex (autosomal) and always appears in appearance (dominant).

If a patient with Marfan syndrome has a child, they can either inherit the diseased or the healthy gene. Because every human being has a double set of hereditary factors. This means that the transmission probability is 50 percent. A child of a Marfan syndrome patient thus has a disease probability of 50 percent.

Marfan syndrome: damaged connective tissue

The mutation that causes Marfan syndrome lies on the long arm of chromosome 15 (15q21). It affects the so-called FBN1 gene. This gene is responsible for the formation of a connective tissue protein called fibrillin-1. Fibrillin-1 is important for the stability of the connective tissue. If its formation is limited by the mutation, the connective tissue loses stability.

Marfan syndrome: Different expression

The degree of manifestation of Marfan syndrome varies. Physicians then speak of variable expressivity. This means that the symptoms of the patients are different even within a family. Despite the same mutation, one patient may have few symptoms, while a sibling shows the full picture of Marfan syndrome.

Marfan syndrome: examinations and diagnosis

The diagnosis Marfan syndrome is often made by a pediatrician. Overall, various specialists play a role in diagnostics, treatment and counseling. These include the pediatrician, human geneticist, cardiologist, orthopedist and ophthalmologist. Before the diagnosis is finalized, your doctor will first ask you in detail about your medical history (anamnesis). For this he asks you the following possible questions:

• Is a family member suffering from Marfan syndrome?
• Do you have the feeling of racing heart every now and then?
• Have you always been taller than others in your childhood?
• Are you short-sighted?

Marfan Syndrome Physical Examination

Subsequently, your doctor will examine you physically. At first he looks 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. Then he listens to the heart and lungs. Heart rhythm disturbances or flow noises above the main artery may be noticed.

To diagnose Marfan syndrome, the so-called Gent criteria have been developed. It lists various symptoms of the disease in varying degrees. If a certain number of criteria are met, the diagnosis can be made.

In addition, a genetic Marfan syndrome test is possible. It analyzes the genome and looks for the mutation responsible for the disease. If there are cases of Marfan syndrome in the family, appropriate diagnostics can be performed before birth.

Marfan syndrome: Similar diseases

To distinguish from Marfan syndrome are other genetic diseases that can lead to similar symptoms. These include, among others

• Ehlers-Danlos Syndrome
• Loeys-Dietz syndrome
• Sphrintzen-Goldberg syndrome
• MASS syndrome

Marfan syndrome: treatment

Because Marfan syndrome is a genetically-related disease, the cause itself, the mutation, can not be treated. The aim of the therapy is a regular monitoring of patients with different specialists to prevent complications. Most important is cardiac monitoring to prevent sudden death through aortic dissection. This can be achieved by counteracting aortic dilation through the administration of beta-blockers and limiting physical activity. Annual aortic ultrasound can be used to monitor aortic dilatation and correct the aortic root in time for the dissection.

Other surgeries that may be necessary for Marfan syndrome

• scoliosis correction
• thoracic correction
• lens removal

Marfan syndrome: disease course and prognosis

The probability of mutation transfer from one parent to a child is 50 percent. Couples with a Marfan syndrome partner planning to have children should consult with a human geneticist.

Life expectancy and quality of life are almost unrestricted in patients with Marfan syndrome today. While life expectancy was still very limited in the past, it has been increased by 30 years over the last 30 years. However, patients still have an increased risk of aortic dissection, which can lead to sudden death. The aortic dissection is most often observed around the age of 30 years. Regular checks at the treating physicians may reduce the risk of aortic dissection Marfan syndrome be reduced.