Term
| A report in NEJM describes a patient with recurrent syncope and dyspnea. ECG data showed lt. ventricular hypertrophy. Genetic analysis revealed a missense mutation in the troponin T gene resulting in imparited muscle contraction. What functional abnormality would result from this abnormality |
|
Definition
| Reduced displacement of troponin I from the actin fibril |
|
|
Term
| What is the most common reason for familial hypertrophic cardiomyopathy? |
|
Definition
| mutations in beta myosin heavy chain |
|
|
Term
| a 25 yr old male comes to your office complaining of shortness of breath, chest pain, palpitations, lightheadednes with occasional fainting spells. You suspect congestive heart failure, but upon taking a FH, the patient reveals that an uncle and a cousin just "dropped dead" while playing football and basketball, respectively. You decide that an ECG should be done immediately. The ECG reveals a thickened ventricular septal wall of 3.2 cm. What is the most likely cause of this person's symptoms? |
|
Definition
| A mutation in his cardiac troponin T |
|
|
Term
1.Achondroplasia shows autosomal dominant inheritance with complete penetrance. A man with achondroplasia has an unaffected partner of normal height. Their first two children are not affected. Which of the following is correct?
a.The probability that their next child will be affected is 1 in 2.
b.The probability that each of their children will be affected is less than 1 in 2 because the parents of the man with achondroplasia are not affected.
c.The mother of these children has a sister with achondroplasia. This increases the risk that the children could be carriers.
d.If their third child is unaffected, then the probability that their fourth child will be affected is 1 in 8. |
|
Definition
| a.The probability that their next child will be affected is 1 in 2. |
|
|
Term
2. A 5-year-old boy measures than the 5th percentile in height for age. On physical examination most of his decreased height is due to very short legs. However, his trunk and head appear normally proportioned for age. He is of above average intelligence and becomes an orthopedic surgeon. His parents and relatives are not affected by this disorder. Which of the following genes is most likely mutated in this individual? (concept – genetic mutations causing acondroplasia)
a. Fibrillin
b. Collagen
c. Fibroblast growth factor 3
d. Fibroblast growth factor receptor 3
e. Fibroblast growth factor receptor 2 |
|
Definition
|
|
