Multiple Choice Questions (MCQ)

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Category: Cardiology--->Genetics, Lipids And Tumours
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Question 1# Print Question

You are seeing a 24-year-old man (A) referred by his GP as he is concerned about his risk of Fabry disease which runs in his family, as shown in the pedigree in Figure below

What is his risk of having the condition?

A. 0
B. 1 in 8
C. 1 in 4
D. 1 in 2
E. 1

Question 2# Print Question

You are looking after a 38-year-old man on the ward who was admitted with a STEMI and treated with PCI. His total cholesterol has been found to be 11.8 mmol/L with LDL 7.3 mmol/L, and he has corneal arcus, tendon xanthomata, and a paternal family history of premature cardiovascular disease. 

What is the most likely causative gene?

A. Proprotein convertase subtilisin-kexin type 9 (PCSK9)
B. Low-density lipoprotein receptor (LDLR)
C. Apolipoprotein B-100 (APOB)
D. Sterol 27-hydroxylase (CYP27A1)
E. Low-density lipoprotein receptor adaptor protein 1 (FHCB2/ARH)

Question 3# Print Question

You are seeing a 28-year-old man in clinic. He has long QT sydrome due to a mutation in the KCNH2 gene. He has two sons and a daughter. One son and his daughter have been tested and found to have the same mutation as him.

What is the chance that his younger son also has this mutation?

A. 0
B. 1/3
C. 1/2
D. 2/3
E. 1

Question 4# Print Question

You are referred a 28-year-old man following a private medical assessment which included echocardiography. This is reported as showing increased trabeculation. 

Which one of the following would not be associated with this being a pathological finding?

A. The trabeculations are predominantly in the right ventricle
B. He has exertional dyspnoea
C. The ratio of trabeculated to non-trabeculated myocardium is 2.8
D. There is an ejection fraction of 38%
E. His father died of a cerebrovascular accident

Question 5# Print Question

You are reviewing a 17-year-old girl who has been transferred from the paediatric service. She had pulmonary stenosis treated in infancy. She has learning difficulties and facial dysmorphism.

Which one of the following is not in the differential diagnosis?

A. Holt–Oram syndrome
B. Noonan syndrome
C. 22q11 microdeletion syndrome
D. Loeys–Dietz syndrome
E. Costello syndrome

Category: Cardiology--->Genetics, Lipids And Tumours
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