Marfan Sindrom

Marfan Sindrom. Marfan syndrome is one of the most common inherited disorders of connective tissue It is an autosomal dominant condition occurring once in every 10000 to 20000 individuals There is a wide variability in clinical symptoms in Marfan syndrome with the most notable occurring in eye skeleton connective tissue and cardiovascular systems.

Marfan syndrome most commonly affects the connective tissue of the heart and blood vessels eyes bones lungs and spinal cord However the condition can affect many parts of the body The most serious complications are in the heart and aorta and may include Aortic aneurysm Marfan syndrome can cause the aorta to weaken and widen.

Marfan Syndrome cdc.gov

Marfan syndrome is a disorder of the connective tissue Connective tissue provides strength and flexibility to structures throughout the body such as bones ligaments muscles walls of blood vessels and heart valves Medical TermsOther NamesLearn More Hpo IdArachnodactylyLong slender fingers Spider fingers [ Ascending tubular aorta aneurysmBulging of wall of large artery located Chronic fatigueChronic extreme exhaustionPectus carinatumPigeon chest.

Marfan Syndrome NHLBI, NIH

OverviewSymptomsCausesRisk FactorsComplicationsMarfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body Marfan syndrome most commonly affects the heart eyes blood vessels and skeleton People with Marfan syndrome are usually tall and thin with unusually long arms legs fingers and toes The damage caused by Marfan syndrome can be mild or severe If your aorta — the large blood vessel that carries blood from your heart to the rest of your body — is affected the condition can become lifethreatening Treatment usually includes medications to keep your blood pressure low to reduce the strain on your aorta Regular monitoring to check for damage progression is vital Many people with Marfan syndrome eventually require preventive surgery to repair the aorta The signs and symptoms of Marfan syndrome can vary greatly even among members of the same family because the disorder can affect so many different areas of the body Some people experience only mild effects but others develop lifethreatening complications Marfan syndrome features may include 1 Tall and slender build 2 Disproportionately long arms legs and fingers 3 A breastbone that protrudes outward or dips inward 4 A high arched palate and crowded teeth 5 Heart murmurs 6 Extreme nearsightedness 7 An abnormally curved spine 8 Flat feet Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder Each child of an affected parent has a 5050 chance of inheriting the defective gene In about 25% of the people who have Marfan syndrome the abnormal gene comes from neither parent In these cases a new mutation develops spontaneously Marfan syndrome affects men and women equally and occurs among all races and ethnic groups Because it&#39s a genetic condition the greatest risk factor for Marfan syndrome is having a parent with the disorder Because Marfan syndrome can affect almost any part of your body it may cause a wide variety of complications.