Marfan syndrome
| 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 |
| Complications | Scoliosis, mitral valve prolapse, aortic aneurysm |
| Duration | Long term |
| Causes | Genetic (autosomal dominant) |
| Diagnostic method | Ghent criteria and genetic testing (DNA analysis). |
| Differential diagnosis | Loeys–Dietz syndrome, Ehlers–Danlos syndrome |
| Medication | Beta blockers, calcium channel blockers, ACE inhibitors |
| Prognosis | Often normal life expectancy |
| Frequency | 1 in 5,000–10,000 |
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints and abnormally curved spines. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected. The severity of the symptoms is variable.
MFS is caused by a mutation in FBN1, one of the genes that make fibrillin, which results in abnormal connective tissue. It is an autosomal dominant disorder. In about 75% of cases, it is inherited from a parent with the condition, while in about 25% it is a new mutation. Diagnosis is often based on the Ghent criteria, family history and genetic testing (DNA analysis).
There is no known cure for MFS. Many of those with the disorder have a normal life expectancy with proper treatment. 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. Surgery may be required to repair the aorta or replace a heart valve. Avoiding strenuous exercise is recommended for those with the condition.
About 1 in 5,000 to 1 in 10,000 people have MFS. Rates of the condition are similar in different regions of the world. It is named after French pediatrician Antoine Marfan, who first described it in 1896.