Cardiology>>>>>Genetics, Lipids And Tumours
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
B. Sarcomere gene mutation or laminopathy
C. Sarcomere gene mutation or Fabry disease
D. Fabry disease
E. Sarcomere gene mutation

Correct Answer is C

Comment:

 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.