TYK135
Marfan syndrome is associated with all of the following EXCEPT:
a) Progressive aortic root dilation
b) Scoliosis
c) Hypertrophic cardiomyopathy
d) Pectus excavatum
e) Alanto-axial (C1-C2) ligamentous instability
Answer
Answer c.
Hypertrophic cardiomyopathy is characterized by a hypertrophic, nondilated left ventricle in the absence of increased afterload (which could explain the hypertrophy). It may be caused by an autosomal dominant mutation in genes encoding myocardial sarcomeres or as a result of glycogen storage diseases (such as Pompe disease). Marfan syndrome, a defect in the fibrillin-1 gene, is not associated with hypertrophic cardiomyopathy but may present as variable findings involving connective tissue defects, including the options above.
Notes
- This question originally printed in the Pediatric Anesthesiology Review Topics kindle book series, and appears courtesy of Naerthwyn Press, LLC.
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