How is Marfan syndrome inherited

Marfan Syndrome - what is it?

The illness

Marfan's syndrome is a hereditary disease. Connective tissue does not form normally due to a genetic defect. Connective tissue is found almost everywhere in the body. Many different organs and body structures are therefore affected, such as bones and joints, eyes or heart and blood vessels.

It is estimated that around 1 to 2 in 10,000 people have Marfan's syndrome. The disease is inherited regardless of gender. Men and women are equally affected. If one parent is sick, there is a 50 percent chance that the child will also get sick. In about every fourth person, the disease is not inherited, but the genetic information has changed by chance. Marfan syndrome then occurs again in this family.

Signs and complaints

Various abnormalities occur, which can be differently pronounced: strong, weak or not at all. Many signs are not yet present in childhood and only develop over time. The following symptoms can occur:

  • Heart and vesselsdilated vessels, especially the main artery (aorta) is affected, ruptures of the vessels, heart valve defects, inflamed heart valves, weak heart, heart failure

  • Bones and jointslong, narrow fingers, arms and legs, slim physique, tall stature, crooked spine, deformed sternum, flat, arched, arched feet, flexible joints, long skull, misaligned teeth. It is typical that the end links of the thumb and little finger completely overlap when you grip your own wrist (positive wrist sign).

  • Eyes:Myopia, blindness, detachment of the retina, tearing off or displacement of the lens of the eye, clouding of the lens (cataract at a young age)

  • lung: Collapse of the lungs

  • Skin:Stretch marks, hernia

Above all, a changed aorta and abnormal heart valves reduce the life expectancy of those affected. Without treatment, they live to be around 40 years old on average. With good medical care, they can live to be just as old as other people today.

Investigations

The doctor will interview you and look for signs that could suggest Marfan syndrome during the physical exam. If the results are clear, one can say whether Marfan syndrome is present. It might be important to distinguish whether you have Marfan syndrome or a similar hereditary condition. A genetic test can then be helpful.

Treatments

There is no cure for Marfan's syndrome, but there are good treatment options. A team of specialists specializing in heart diseases (cardiology), Orthopedics and ophthalmology should provide you with regular and permanent care.

Consequences that affect the heart and blood vessels are to be taken particularly seriously. There is a risk that the aorta will expand. If it breaks, there is a risk to life. You may be able to use certain drugs called blood pressure lowering drugs Beta blockers, counteract this and improve survival. Beta blockers are also out of the question as blood pressure medication Sartans (angiotensin receptor blockers) possible.

Sometimes the specialists recommend preventive aortic surgery as well. The medical team removes the dilated vascular site and replaces it with artificial tissue. Whether or not such an operation should be done depends on how much the vessel is dilated and how quickly it is expanding. What other illnesses you have and how the Marfan syndrome ran in your family also plays a role. With preventive surgery, 98 to 99 out of 100 survivors. If the aorta suddenly ruptures, this is an emergency. About 80 out of 100 people survive an emergency operation.

Bacteria can attach themselves more easily to altered heart valves and lead to inflammation of the heart. In certain situations, for example before dental surgery, you should therefore be given an antibiotic as a precaution.

Orthopedic problems can be treated with physiotherapy. Operations on the spine, feet, eyes or lungs alleviate some ailments.

Hormones are sometimes used to limit excessive body growth.

What you can do yourself

  • Let experts take care of your illness in a Marfan consultation.

  • Go to the medical check-ups regularly. In this way you can assess the course of the disease and recognize treatable changes in good time. Frequent blood pressure checks and annual heart exams are particularly important.

  • If symptoms suddenly worsen significantly, seek medical advice immediately.

  • Certain signs, such as chest or abdominal pain, feeling short of breath, or fainting, may indicate an emergency. Call 112.

  • First-degree relatives are more likely to be sick themselves. A targeted investigation can bring clarity here.

  • If you have any questions about the inheritance of the disease, go to a Marfan Syndrome center for detailed evaluation and advice. There you can have your blood or that of your child tested for changes in hereditary characteristics.

  • Get advice when planning a pregnancy.

  • Certain physical loads, such as heavy lifting, weight training, competitive or contact sports, increase the risk of the aorta rupturing. Experts therefore advise against it.

  • You are not alone with your illness, there are support and advice offers that can make your everyday life easier. Find out about self-help organizations and share your experiences with other people affected.

February 2021, published by the German Medical Association and the National Association of Statutory Health Insurance Physicians