TYK135

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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


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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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