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Marfan Syndrome, a.k.a. Marfan's syndrome, Marfan disease, Marfan's disease
Mode Of inheritance-Autosomal Dominant
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Clinical Discription
- located on chromosome 15q21.1
- 1 in 10,000 individuals, and perhaps as many as 1 in 3000-5000 individuals. Estimates suggest that at least 200,000 people in the US have Marfan syndrome or a related connective tissue disorder
- No geographic predilection is known
- Cardiovascular disease (aortic dilatation and dissection) is the major cause of morbidity and mortality.
- Marfan syndrome is pan-ethnic.
- May be Diagnosed prenatally at birth
- Long, lanky frame
- Long, thin limbs
- Armspan significantly greater than body height
- Long, spidery fingers (arachnodactyly)
- Funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)
- Scoliosis
- Visual difficulties
- Flat feet
- Learning disability/school problems
- Thin, narrow face
- Micrognathia (small lower jaw)
- Coloboma of iris
- Hypotonia
Treatment
- Medication
Beta-blocker medications have been shown to slow enlargement of the aorta and delay aortic surgery.
- Heart surgery
- Lifestyle changes
Lifestyle changes, such as avoiding strenuous exercise and contact sports, can help contribute to living with Marfan syndrome.
Detection
- The pedigree should be studied carefully to identify all relatives at risk. These individuals should be approached through the probands or the referring physicians for screening.
- Because of wide clinical variability, even relatives with no apparent outward manifestations should be advised to have detailed ophthalmologic and echocardiographic examinations
- Women should have a thorough cardiovascular evaluation before conception and during pregnancy. Those with an aortic root diameter of less than 40 mm historically tolerate pregnancy well.
- Echocardiogram should be performed every 6-10 weeks during pregnancy.
- Patients with Marfan syndrome have a 50% risk of passing the gene to the offspring regardless of sex.
- Fetal echocardiography with careful limb length measurements by level II ultrasonography should be offered during an at-risk pregnancy at the 20th and 24th weeks of gestation.
- Prenatal molecular diagnosis is possible only if the familys mutation is known or sufficient affected family members are available for genetic linkage analysis. Prenatal and presymptomatic genetic diagnoses have been accomplished using fluorescent polymerase chain reaction and the automated Laser Fluorescence DNA Sequencer.
- Neonatal Marfan syndrome appears to be due to mutations in the FBN1 gene, which is located in exons 23-32 of the epidermal growth factorlike domains in the middle of the protein. Screening for mutations in this region of the fibrillin gene in infants suspected of having neonatal Marfan syndrome can confirm the diagnosis.
Extras
- The disease complicates the daily physical activities of patients and adversely affects their education and employment.
- Patients may be more introverted in their social behavior.
- The risk of transmitting the defect to progeny and the risk associated with childbearing in female patients are major concerns.
- Most patients emphasize the need for accurate information about the illness immediately after knowing the diagnosis. Typically, they find psychosocial support helpful.
- Depression and anxiety levels are usually higher in females than males.
- Most patients accept their disease and consider themselves happy most of the time
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