Question 6#

You see a 34-year-old man for his annual review for hypertrophic cardiomyopathy. 

Which one of the following is not considered a risk factor for sudden death?

A. Non-sustained VT (rate 200 bpm) on 48-hour Holter monitor

Although syncope is considered a risk factor, this is usually excluded when it occurred more than 10 years previously.

Question 7#

You are looking after a 34-year-old man as an inpatient after admission with a type A thoracic aortic dissection. 

Which one of the following would make you think that Loeys–Dietz syndrome is a more likely cause than Marfan syndrome?

A. Dural ectasia

Widely spaced eyes (hypertelorism) is commonly seen in those with Loeys–Dietz syndrome but not with Marfan syndrome, familial aortic aneurysms, or other causes.

Question 8#

Which one of the following genes is not associated with aortic disease?

A. Fibrillin

KCNH2 is one of the more common causes of long QT syndrome and has not been associated with aortopathies.

Question 9#

You see a family in clinic who have a dominantly inherited SCN5A (cardiac sodium channel) mutation.

Which one of the following cardiac problems would you not expect to be due to this?

A. Brugada syndrome

SCN5A, the cardiac sodium channel, is associated with a broad range of conduction and arrhythmic disorders including long QT syndrome, Brugada syndrome, familial AF, and sick sinus syndrome. Catecholaminergic paroxysmal ventricular tachycardia is due to mutations in the cardiac ryanodine receptor, and recessively CASQ, which affect calcium release from the sarcoplasmic reticulum.

Question 10#

You are seeing a 34-year-old man with left ventricular hypertrophy (LVH). He has a family history of LVH, as shown in the pedigree in Figure below

Which one of the following is the most appropriate differential diagnosis of the cause?

A. Sarcomere gene mutation, mitochondrial DNA mutation, or Fabry disease

 Hypertrophic cardiomyopathy is most commonly inherited in an autosomal dominant fashion due to sarcomere gene mutations. This is possible here; penetrance is incomplete, hence the unaffected female. X-linked inheritance with manifesting females is possible as there are no examples of male-to-male transmission; therefore Fabry disease is possible, although less likely. Transmission from a father to a child excludes a mitochondrial DNA mutation. Laminopathy is dominantly inherited but causes dilated cardiomyopathy with conduction defects.