Marfan syndrome | |
---|---|
Other names | Marfan's syndrome |
Ectopia lentis in Marfan syndrome: Zonular fibers are seen. | |
Specialty | Medical genetics |
Symptoms | Tall thin build; long arms, legs and fingers; flexible fingers and toes[1] |
Complications | Scoliosis, mitral valve prolapse, aortic aneurysm[1] |
Duration | Long term[1] |
Causes | Genetic (autosomal dominant)[1] |
Diagnostic method | Ghent criteria[2] and genetic testing (DNA analysis).[3] |
Differential diagnosis | Loeys–Dietz syndrome, Ehlers–Danlos syndrome |
Medication | Beta blockers, calcium channel blockers, ACE inhibitors[4][5] |
Prognosis | Often normal life expectancy[1] |
Frequency | 1 in 5,000–10,000[4] |
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue.[6][7][1] Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes.[1] They also typically have exceptionally flexible joints and abnormally curved spines.[1] The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm.[1][8] The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected.[1] The severity of the symptoms is variable.[1]
MFS is caused by a mutation in FBN1, one of the genes that make fibrillin, which results in abnormal connective tissue.[1] It is an autosomal dominant disorder.[1] In about 75% of cases, it is inherited from a parent with the condition, while in about 25% it is a new mutation.[1] Diagnosis is often based on the Ghent criteria,[9] family history and genetic testing (DNA analysis).[2][4][3]
There is no known cure for MFS.[1] Many of those with the disorder have a normal life expectancy with proper treatment.[1] Management often includes the use of beta blockers such as propranolol or atenolol or, if they are not tolerated, calcium channel blockers or ACE inhibitors.[4][5] Surgery may be required to repair the aorta or replace a heart valve.[5] Avoiding strenuous exercise is recommended for those with the condition.[4]
About 1 in 5,000 to 1 in 10,000 people have MFS.[4][10] Rates of the condition are similar in different regions of the world.[10] It is named after French pediatrician Antoine Marfan, who first described it in 1896.[11][12]
estimated prevalence of 1 case per 3000 to 5000 individuals