Etiology

1. Kate is born with features that do not look quite normal. Her eyes are wide-set and slightly slanted. Her nose is short and flat, and she keeps her mouth slightly open. There is a straight crease across her palm, and her fifth digit is unusually short. The doctor tells her parents she has an inherited disorder. If you were the doctor what would you diagnosis Kate with? Discuss the etiology of Kate’s disorder? What is the biggest risk factor for this disorder? How can or will this disorder affect Kate? What test could have been completed to diagnosis this disorder before Kate’s birth?

2. Research one autosomal dominant disease, one autosomal recessive disease, and a sex-linked disease. For each disease discuss: 1. Etiology, 2. Signs and Symptoms, 3. Diagnosis, 4. Treatment and Prevention. Provide additional information from an outside source.

3. A 12-year-old child experiences high fever and chills. He also says that his heart feels like its pounding. Two weeks before these symptoms, the child fell off his bike and skinned his knee. This child also has a history of a heart murmur. What disease should be considered and what is the treatment? What congenital heart disease is associated with heart murmurs?

4. A 59-year-old male calls the paramedics after experiencing an episode of chest pain while shoveling snow. He describes his pain as a crushing, tight feeling that radiates to his left arm and jaw. What type(s) of heart disease is this patient experiencing (explain)? What diagnostic test would you expect the physician to order and why? What is the treatment?