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 Case Study ThreeHans Dietz is a 25 year old male patient with a family history of Marfan Syndrome (MFS). He is generally well and enjoys attending regular fitness sessions in his local gymnasium.

Case Study Three

Hans Dietz is a 25 year old male patient with a family history of Marfan Syndrome (MFS).  He is generally well and enjoys attending regular fitness sessions in his local gymnasium.  During a recent gym session, he experienced dizziness followed by a fainting episode.  He presented at the emergency department and a new systolic murmur was heard.  Mr Dietz subsequently underwent screening for cardiovascular abnormalities associated with his family history of Marfan Syndrome.

Question 1

The fibrous structure of the heart is comprised predominantly of connective tissue proteins. 

Describe the microscopic composition of the layers of the mitral valve.  Your answer must include a description of the connective tissue element, the cell types found in each layer and how the layers are arranged (i.e. their structure or architecture).                     3 marks            

Question 2

Upon further evaluation with an echocardiogram (cardiac ultrasound), Mr Dietz was found to have an enlarged (dilated) proximal ascending aorta, mitral valve prolapse with myxomatous changes and elongated chordae.

The patient was noted as having myxomatous changes in the mitral valve leaflets and associated elongation of the chordae tendineae.  Explain what is meant by the term myxomatous changes. Your answer must include a description of the cellular and structural changes that occur within the valve. 2 marks

Question 3

Where on the body would be the ideal position for the clinician to auscultate for a systolic murmur associated with the mitral valve? 2 marks

Question 4

Describe the secondary complications (or consequences) that will occur as a result of the changes in the structure of the mitral valve in a patient with Marfans syndrome.  Your answer should link to the clinical sign noted in this patient of the new systolic murmur.  3 marks


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