Question

In: Anatomy and Physiology

Hans Dietz is a 25 year old male patient with a family history of Marfan Syndrome...

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 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 Marfan syndrome. Your answer should link to the clinical sign of the new systolic murmur noted in this patient.

Solutions

Expert Solution

New onset systolic murmur is due to mitral valve prolapse which is common in Marfans syndrome.

Mitral valve prolapse  is a valvular heart disease characterized by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole. On auscultation mitral valve prolapse produces, a mid-systolic click, followed by a late systolic murmur heard best at the apex.

Marfan syndrome is an autosomal dominant syndrome which has defect on chromosome 15 which codes for fibrillin which is a connective tissue protein.

Abnormalities in this protein cause a variety of clinical problems, of which the musculoskeletal, cardiac, and ocular system are common.

Major cardiovascular system criteria are Dilatation of the ascending aorta, with or without regurgitation, and Dissection of the ascending aorta. Minor cardiovascular criteria are Mitral valve prolapse, with or without regurgitation

Major skeletal system criteria are, tall stature, Pectus carinatum, A reduced upper-to-lower segment ratn increased arm span–to–height ratio that is greater than 1.05, positive wrist sign (ie, the thumb and index fingers overlap when encircling the contralateral wrist.

In eyes dislocation of lens is common


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