A 30-Year-Old Woman With Recurrent Shoulder Subluxation: Osmosis USMLE Study Question

October 15, 2021

The patient has described a history of joint hypermobility (hyperextension and recurrent subluxation), skin hyperextensibility, and tissue fragility (easy bruising and poor wound healing), which are signs for Ehlers-Danlos syndrome (EDS). EDS encompasses multiple connective tissue disorders that tend to result from defects in collagen synthesis or function. This patient meets criteria for classic EDS, caused by a genetic defect in collagen V. Apart from the defining symptoms, EDS can result in various complications, including valvular abnormalities. These abnormalities are somewhat rare, but mitral valve prolapse and aortic root dilatation are the most common complications, each affecting about 6% of patients with EDS. Of the given choices, this answer best describes the murmur of mitral valve prolapse; none of the answers correspond to the high-pitched early diastolic murmur of aortic regurgitation that might be observed in a patient with aortic root dilatation.

Major Takeaway: EDS, a group of connective tissue disorders affecting collagen function, causes joint hypermobility, skin hyperextensibility, and tissue fragility; additional complications include valvular disease like mitral valve prolapse.

Read more clinical information on EDS.

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