Marfan syndrome
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Marfan syndrome

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Marfan syndrome Marfan syndrome Presentation Transcript

  • Marfan Syndrome Margaret Pagington
  • Cardiovascular System Aorta The aorta, which is the largest artery in the body, carries blood from the left ventricle. The aorta is made of three different layers of tissue: intima (a thin inner layer), media (an elastic middle layer), and adventitia (a tough outer layer).
  • Aortic Dissection • Aortic dissection occurs when the inner • layer of the aorta (intima) develops a tear. The blood can now rush into the middle layer of the aorta, separating or dissecting the two layers. If the blood ruptures through the outer layer (adventitia), an aortic dissection can be fatal.
  • Aortic Dilation • Aortic dilations are a bulge in the wall of the aorta and can be caused by a dissection of the artery.
  • Valves • • The aortic semilunar valve allows blood to flow from the left ventricle into the aorta and is composed of three flaps or cusps. The mitral valve allows blood to flow from the left atrium to the left ventricle and has two cusps.
  • Mitral Valve Prolapse • Mitral valve prolapse occurs when the mitral valve does not close properly. The cusps of the valve bulge backwards or prolapse into the left atrium.
  • Patient History • 32 year old male patient • Actuary • 6 feet and 5 inches tall • One hundred and forty pounds • Married without children
  • Family History/Lifestyle • Patient has a father with Marfan • • Syndrome (de novo mutation) and a mother who died of small cell lung carcinoma. Patient is not a smoker and drinks only socially. There are no associated occupational issues and patient is not a recreational drug user. Patient has no drug allergies and is
  • Past Medical History • Patient had surgery to implant Harrington rods at age sixteen. o Harrington rods are implanted along the spine to correct instability and deformity. When the spine is unstable, it no longer retains a normal shape during movement. o Patient first sought care due to pain from spinal instability.
  • Continued • During X-rays taken to diagnose and confirm skeletal instability, bilateral protrusio acetabuli was detected.
  • • After further examinations, skin striae and pectus excavatum were both detected.
  • • It was also reported that the patient had reduced elbow extension. Elbow extension is ruled reduced when the angle formed is less than 170 degrees.
  • Diagnosis • The guidelines for Marfan Diagnosis are outlined by the 2010 Revised Ghent Nosology. It relies upon seven different rules. o Rules 5-7 are contingent upon the presence of family history of the condition, which is present with this patient o Rule 6 says that the systemic score
  • 1 2 1 1 1 6
  • Reason for Visit • • • Patient previously had a systemic score of 6 o If mitral valve prolapse is detected, this would increase the score to 7 and a diagnosis can be made. If the patient does have Marfan Syndrome, precautionary measures must be taken in order to diagnose or prevent other heart problems including o aortic regurgitation and mitral valve prolapse, aortic dilation, and aortic dissection The patient was scheduled for a routine diagnosis, but was admitted after experiencing extreme anterior chest pain.
  • Marfan Syndrome • Marfan Syndrome is caused by a mutation of the FBN1 gene on chromosome 15. This gene is responsible for encoding the glycoprotein fibrillin-1. Fibrillin-1 is responsible for the proper formation of the extracellular matrix, which is needed for the structural integrity of connective tissue.
  • Tests • There are several tests that can be • performed to check for heart conditions related to Marfan Syndrome. One of the most important conditions to check for is Mitral valve prolapse since it will confirm the diagnosis of Marfan Syndrome by raising the systemic score to 7. Auscultation
  • Auscultation • Auscultations can be used to listen for specific heart sounds that are related to specific conditions like mitral valve prolapse and aortic regurgitation.
  • Test results • Heart auscultations revealed clear signs of both mitral valve prolapse and aortic regurgitation. Upon evidence of this, the echocardiograms were performed.
  • Transthoracic echocardiogram • Transthoracic echocardiogram is an easy to perform and noninvasive imaging technique that uses sound waves to produce a moving image of the heart. • There are 4 different standard positions of the transducer and each can give several different images o parasternal (long and short axis), apical, subcostal, and suprasternal
  • Parasternal Long Axis • This is a 2-D echocardiogram in the parasternal long axis that shows evidence of a dilation of the aortic root.
  • Color Doppler • This color doppler shows regurgitation through a normal aortic valve that results from dilation of the aortic root.
  • 2-D and M-Mode • These are a 2-D and M-mode images of a mitral valve prolapse.
  • Transesophageal Echocardiogram • Transesophageal echocardiogram can give much clearer images than transthoracic since the transducer is swallowed and is closer to the heart. However, the procedure is much more evasive. • It is commonly used to diagnose aortic dissection
  • Results • As a result of these tests, I have concluded that the patient has mitral valve prolapse, aortic dissection, and aortic dilation that is causing aortic regurgitation. o According to Ghent Nosology, I can now diagnose the patient as having Marfan Syndrome
  • Treatment- Mitral Valve Prolapse • Most patients with mitral valve prolapse do not require treatment unless they have symptoms. If the patient becomes symptomatic: o Medication: beta blockers (these reduce blood pressure and the heart beats with less force) and aspirin (reduces risk of blood clots) o Surgery: Surgery is not very common except with severe prolapse  Valve repair: Valve repair preserves the patient tissue  Valve replacement: The valve is replaced by a
  • Aortic Dissection • Aortic dissection requires surgery. The • surgeons must remove much of the dissected aorta, prevent blood from entering the aortic wall, and reconstruct the aorta with a synthetic tube. If there are aortic valve problems, the valve will be replaced at the same time. The valve is placed within the tube.
  • Aortic Dilation • • Aortic dilation requires surgical management. It should be performed when the aorta is 4.55 cm, the rate of growth is 0.5 cm or more, and there is the presence of aortic regurgitation. An artificial valve, to replace the aortic valve, is mounted on a fabric tube prior to surgery. This graft is used to replace a portion of the aorta.
  • Treatment • The patient does not need surgery for the mitral valve prolapse at present, but must have surgery for the aortic dissection. o A tube graft will replace any dissected tissue and a new mechanical valve will replace the aortic valve. This will also solve the problem of aortic dilation. o After surgery, the patient will have to take beta blockers indefinitely to prevent clots from forming on the valve. This will also help treat the mitral valve prolapse
  • Sources • • • • • • • • • • • • • • • • http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0004320/ http://www.mayoclinic.com/ http://www.massgeneral.org/vascularcenter/services/procedure.aspx?id=2170 http://my.clevelandclinic.org/heart/disorders/aorta_marfan/marfansurgery.aspx http://echocardiographer.org/ http://www.wikiecho.org/ http://www.sharinginhealth.ca/cardiovascular/investigations/physical_exam/valve_locations.j pg http://www.nhlbi.nih.gov/health/health-topics/topics/mar/signs.html http://www.abdominalaneurysm.net/wp-content/uploads/2012/12/ascending-aorticaneurysm.jpg http://www.sts.org/patient-information/aneurysm-surgery/aortic-aneurysms http://www.marfanlife.net/bb3/viewtopic.php?f=47&t=809 http://www.marfan.org/ http://www.english-lss.com/English%20for%20Medical%20Students/PDF %20Files/Microsoft%20Word%20-%20Patient%20Interview%20Guide.pdf http://stanfordhospital.org/cardiovascularhealth/marfan/ http://www.cedars-sinai.edu/Patients/Programs-and-Services/HeartInstitute/Conditions/Aortic-Disease.aspx http://www.genesys.org/GRMCWeb.nsf/1800a6dabae522b98525727c004cf69c/038e699161 90a3458525723d00684213!OpenDocument