Scenario :
You are a second-year medical student working with a family practice doctor. A 32 year-old male patient comes in, complaining that his heart was racing yesterday while he was sitting and watching television. The patient's family history is unremarkable except that the patient's father's brother died of heart problems at 49 years of age. The doctor sends the patient to get an electrocardiogram; the results of this ECG may indicate long QT syndrome.
Go to OMIM ( http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits ):
Search the database for long QT syndrome 1
Use the item titled “#192500 Long QT syndrome 1; LQT1” to answer the following questions.
Study Questions:
1. What gene is typically mutated in long QT syndrome-1? What are the two diseases that mutations of this gene can cause?
2. How are the two diseases from question 1 distinguished from each other?
3. How is long QT syndrome characterized electrocardiographically?
4. How might Romano-Ward syndrome be expressed in utero?
5. How do the QT intervals (in terms of timing) differ between carriers and non-carriers of LQT?
6. What should be used as the basis of an accurate diagnosis of LQT?
7. For whom, males or females, does the first cardiac event typically occur earlier? What does the term “cardiac event” include?
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