Marfan

1. Marfan Syndrome Mac Simonson and Thomas Evans Top: Normal hands and wrist Bottom: Person with Marfan Syndrome (Elongated finger and forearm bones)

2. Inheritance • Marfan Syndrome is inherited in an autosomal dominant pattern • Most cases of this syndrome are inherited, but 30% of the time the symptomatic person has no family history (called a sporadic case from a spontaneous new gene defect) • No sex predilection is known • Autosomal dominant: DD orDd • People withMarfansyndrome have a 50-50 chance of passing it on to each child they have

3. Prevalence • Worldwide 1 in 5,000 people have the syndrome • One of the most common single-gene malformation syndromes • For reasons not completely understood, Marfan Syndrome is more common in China than in the rest of the world

4. Diagnosis • Causes an increase in protein production of TGFB • affecting: the skeletal system, cardiovascular system, eyes (causes cataracts), skin, long tissue, aorta (stretching it or causing it to become weak), and the tissue covering spinal cord • Caused by defects in the fibrillin -1 gene on chromosome 15 which plays the role of the building block for elastic tissue • The defect causes too much growth in the long bones of the body causing great height with long arms and long legs • Can be diagnosed prenatally or well into adulthood • Dilation or dissection of the aorta at the level of the sinuses ofvalsava, ectopialentis, lumbosacralduralectasia, determined by CT scan or MRI • Diagnosis is based on family history and the presence of characteristic clinical findings in the ocular, skeletal, and cardiovascular system

5. Physical Symptoms • Wingspan is significantly larger than height • “Spider”-like fingers (arachnodactyly) • Funneled chest (pectusexcavatum) or pigeon breast (pectuscarinatum), • flat feet • Highly arched palate and crowded teeth • Hypotonia, too flexible of joints, learning disability, dislocation of lens of eyes, nearsightedness, small lower jaw (micrognathia), scoliosis, thin, narrow face • hyper-mobile joints

6. Treatments • Treatment options for Marfan Syndrome are very limited. There are currently no treatments for the underlying cause of Marfan Syndrome, only medicine, aortic or ocular surgery to treat symptoms, and “beta blockers” to slow the heart rate • There are currently no notable prospective treatments being developed to treat Marfan Syndrome • Various gene-replacement therapies in the future could yield a cure to this disease, though they would need to be administered while in fairly early development

7. Living With • Marfan Syndrome is highly lethal due to medical complications accompanying height and aortic frailty; average life expectancy is 30-40 years • Several famous people are suspected to have had Marfan Syndrome, such as Abraham Lincoln and Mary Queen of Scotts • Everyday Life with Marfan: adults may feel angry or afraid, concerned with passing on the syndrome to future generations, the physical, emotional and financial implications • Limitations: Most are not able to participate in most sports: competitive/contact • Support Organizations: • IFMSO- International Federation of Marfan Syndrome Organization • National Marfan Foundation Marfan Syndrome

8. Bibliography http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001455 http://www.marfan.org/marfan/2406/Diagnosis http://ghr.nlm.nih.gov/condition/marfan-syndrome#treatment http://www.genome.gov/19519224 http://emedicine.medscape.com/article/946315-overview http://genetics.emedtv.com/marfan-syndrome/is-there-a-cure-for-marfan-syndrome.html http://radiographics.rsna.org/content/27/4/989/F32.expansion?ck=nck http://www.primehealthchannel.com/marfan-syndrome-pictures-symptoms-treatment-and-life-expectancy.html http://www.hughston.com/hha/a_12_2_4.htm