Block 2 Case 17 Answers

Below is an image from a biopsy of a 17 year old athlete who developed chest pain and dyspnea during a tennis match and passed out. He was rushed to the hospital but was dead on arrival.

http://www.sciencedirect.com/science/article/pii/S1756231709001960

What are the key histologic findings?

   -Marked myofiber hypertrophy

   -Interstitial fibrosis

There is a genetic component to this disease  What is the mutation? Is it autosomal dominant or recessive?

Hypertrophic cardiomyopthy is genetic in many cases: autosomal dominant with mutations in genes of sarcomere proteins

   -35% beta-myosin heavy chain

   -15% myosin binding protein C

What was the cause of his symptoms?

• Due to a septal obstruction and poor compliance there was reduced filling during diastole which lead to a lower cardiac output that was unable to provide sufficient oxygen to vital organs.  Insufficient oxygen to the brain lead to syncope. Inadequate oxygenation of his heart caused his syncope.
• Dyspnea was due to the stifened left  ventricle which impaired blood flow resulting in pressures that backed up fluid into the lungs.