Audio Transcript Auto-generated
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Marfan Syndrome is a connective tissue disorder,
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meaning that it affects the material between cells of the body,
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which gives tissue form and strength.
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It's estimated to affect between one in 5002 and 2-3 and 10,000 people every year.
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It's an autism, more dominant inherited disorder
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and can have multi system involvement
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varying from person to person.
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However, the most commonly affected systems are the heart and blood vessels,
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skeletal muscle and the eyes
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Martin results.
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As a result,
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Marfan presents itself as a result of a defect
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in the FBI One gene on chromosome number 15.
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The FBN one gene codes for protein fiber Lynn,
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a fiber like protein found in the extra cellular matrix that connects the body cells
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and provides strength and integrity of connective tissues as
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well as has some role in growth factor regulation.
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There are multiple point mutations that affect 16 residues in the micro fiber, all
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Which results in abnormal bonding between 16s in the protein when it folds,
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this causes defective microfiber production,
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diagnosis of Marfan is kind of difficult.
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It's mostly a clinical diagnosis based on presentation and
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a thorough history of the patient and their family.
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There are, however, what is called gentleness ology,
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which is diagnosis based on 2 to 3 prevalent factors
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that are common in the majority of Marfan syndrome.
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These are aortic aneurysm or dissection and dislocation of ocular lenses.
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While there is no universal testing
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if a physician or provider suspects Marfan syndrome,
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the patient should undergo a complete skeletal examination,
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a complete heart examination as well as
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an echo and additionally,
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a slit lamp examination to look for any
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dislocation of the lens or other ophthalmic issues.
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Molecular testing can also aid in diagnosis if there is
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an absence of physical presentations or familial or patient history.
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Clinical science and symptoms are very apparent but
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also have some overlap with other disorders.
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Two diagnostic signs, as mentioned in genesis ology,
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are aortic aneurysm or dissection and dislocation of ocular lenses. However,
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patients with Marfan syndrome can also present with other heart and eye
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manifestations such as mitral valve prolapse,
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which may or may not have associated chest pain or arrhythmia,
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nearsightedness or myopia, and early onset cataracts and glaucoma
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patients also tend to have an overgrowth of long bones such as the arms and legs.
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They have abnormally long and thin limbs as well as fingers
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and they're usually very tall in comparison to family members,
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not necessarily the general public
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scoliosis in these patients is also not uncommon,
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as it neither is
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sunken chest, which is due to an overgrowth of the rib bones.
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These patients may also present with loose
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and flexible joints to an abnormal degree
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flat feet or permanently bent fingers,
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potentially reduced elbow extension and
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other joints may eventually become contracted
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in terms of general appearance.
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They often have stretch marks without an obvious cause
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and can encounter you can encounter hernias as well
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very apparent to onlookers are the facial features of those with Marfan syndrome.
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These include a long, narrow skull, deep set eyes,
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abnormally small jaw which may be recessed, not necessarily every time,
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abnormally flat cheekbones, a downward slant of the eyes,
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a high arched roof of the mouth as well as crowding and misalignment
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with potential mala occlusion of teeth
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after a diagnosis is made here is incredibly
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important for patients to have annual echocardiograms as
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well as annual optimal logic exams to ensure that their heart hasn't gotten too big,
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that their aorta hasn't gotten too large and that they aren't having
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any instances of aortic dissection
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or any other problems with their heart or any difficulty with vision.
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Developmental implications can be really variable from patient to
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patient as every patient has a different presentation.
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Um But some of the most notable are physical development um differences and
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there can be some associated cognitive and
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emotional or social differences as well.
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Most notably in these patients are the physical
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development alterations and their motor development alterations.
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Um
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The increased long bone growth,
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poor muscle tone and fatigue can lead to delays in things like balance,
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coordination and gross motor movements, like walking, crawling,
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etcetera because their bodies are simply unbalanced.
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They also have a propensity for scoliosis which can
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lead to differences um with development of walking,
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crawling, other gross motor skills which require balance and coordination
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and additionally myopia or other
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problems with vision can play a role in physical development as
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they can't exactly see other people doing things to mimic.
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Its also harder to see things like where you're
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going if there's something to grab onto etcetera etcetera.
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So management and therapies of these things is largely preventative.
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And generally if you treat the underlying physical differences,
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you're going to help treat any kind of development,
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motor development issues as well.
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So things like beta blockers and arms are used
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to help decrease heart rate and blood pressure,
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which puts less workload on the heart and gives
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the heart better prognosis in the long run.
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Also saying with avoiding exercises and that
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increased blood pressure and heart rate.
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There are also some prophylactic surgical
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procedures that involve valves and the aorta
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that can be helpful
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as well as valve replacements.
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Um As far as scoliosis goes,
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braces and surgery for visiting correction on the eyes
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can also help with these issues as well.
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So next the cognitive and
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language implications.
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So any differences here,
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you're going to have to think I have to do with the underlying pathology,
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where the heart is over being overworked because
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of partly the sheer size of the body.
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So this leads to not only muscle fatigue but also a mental fatigue.
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And there has been some um studies that
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have shown a link to decreased executive functioning.
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Additionally,
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vision disturbances may alter language development um if Children are unable to
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see how their parents and families mouths move when they speak,
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it's gonna be a lot more difficult for them to
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mimic that and try to make the same sounds.
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So, in terms of management,
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um most of the time treating those underlying cardiac presentations as well as
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maybe vision difficulties are going to
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help improve cognitive functioning as well,
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cognitive and speech functioning as well.
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Speech therapy may also prove to be beneficial for
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any kind of speech delays that may present themselves.
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Some of the most notable developmental
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issues for these patients with Marfan syndrome
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do become social emotional development.
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Um These Children aren't allowed to do things like
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sports that increase their heart rate and blood pressure,
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so they're not allowed to participate in a lot
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of things that Children and their adolescent years do,
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like sports and different teams,
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which they often feel left out on top of a lot
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of times they have been shown to have poor self esteem due
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to their physical appearance and feel that they would fit in better
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and be more well liked if their physical parents were different.
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This results in having
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a really big struggle when it comes to forming their own identity because
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they can't explore different things the way other adolescents their age can.
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And they may not have as many friends as some other Children at this age as
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well management and therapies at this age are
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going to consist of things like counseling,
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maybe talking to a psychologist or a therapist on a regular basis.
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Um as you would any child with poor self esteem and trouble fitting in.
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Mhm.
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So the product knows just for these Children nowadays is actually really good.
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Um Prior to pharmacologic and surgical interventions,
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the life expectancy was about two thirds of someone without Marfan syndrome.
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But now with appropriate management and treatment,
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um the lifespan of someone with Marfan syndrome is similar if
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not the same as someone who does not have Marfan syndrome.
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So while there is no cure for Marfan syndrome,
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some of the treatments that help them have
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a lifespan similar to those people without Marfan syndrome
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include preventative management,
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such as not taking part in those sports using
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different drugs to reduce heart rate and blood pressure,
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prophylactic valve surgery.
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Like we see here where they spare the valve, they don't actually replace it.
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Um As well as bracing for scoliosis and surgery
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if it's really severe enough and correction of vision
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can really help these Children
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here are some resources available to her family's online
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and
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a reference