Reference no: EM133352681

Case of the Double Jointed Athlete

History of Present Illness: Marty Fanstrom, a 27 year old A-P student, has a genetic disease similar to one suffered by one of our past presidents. This disorder mainly involves hypermobility of the joints, some abnormal skeletal proportions, and cardiac problems. Marty recalls that during his childhood his fingers would often sublux (partially dislocate) on their own. Although this was a nuisance, they always "popped back in". Mary took advantage of being extremely limber and participated in sports such as ballet, tumbling, and gymnastics during junior high and high school. Although he never performed stretching exercises, Marty broke school records with various maneuvers that measured his limberness. However, his hypermobility was not always an asset. Marty currently has chronic knee and shoulder pain. Sleeping is often difficult: if he sleeps lying on his side, he feels like his humerus rolls out of his shoulder socket and pinches some nerves.

Marty has also suffered from palpitations (an awareness of your heart beating) and fatigue. A cardiologist performed a physical examination and echocardiogram and diagnosed Marty with mitral regurgitation and a 3.5-centimeter thoracic aortic aneurysm. Marty states that he does not have any eye problems.

Family History: No known history of any excessive joint mobility, eye problems, or cardiac disease.

Physical Examination:

1. Skeletal Appearance: He is 6'3" in height and somewhat slender, with a slightly depressed chest (pectus excavatum). He has no scoliosis. He demonstrated that his armspan is seven inches longer than his height. His fingers appeared somewhat long. The arches of his feet appeared normal.

2. Cardiac exam: revealed a systolic murmur consistent with mitral regurgitation.

QUESTION:

What other physical findings might have been found, had they been looked for?

What genetic defect does he have?

Is there any medication he should consider taking to slow the onset of the need to have surgery on his aneurysm?