Hypertrophic Cardiomyopathy: A Review of Clinical and Molecular Characteristics and Effects and A Clinical Case Study
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Authors
Freitas, Natalie E.
Issue Date
2014
Type
Thesis
Language
en_US
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Abstract
Hypertrophic cardiomyopathy (HCM) is an autosomal-dominant disease of the
myocardium characterized by left ventricular hypertrophy and myofibrillar disarray.
HCM is considered the most common cause of sudden cardiac death in young athletes.
Mutations of the myosin-binding protein C (cMyBP-C) have been targeted as one of the
most prevalent causes of this disease, and the deactivating effects of such mutant forms
on the quality control ubiquitin-proteasome system (UPS) contribute to cardiac
dysfunction. The E334K mutant cMyBP-C has been shown to destabilize its protein and
lead to the impairment of the UPS, resulting in the clinical arrhythmias and cardiac
dysfunction observed in HCM patients. A case study has been incorporated to illustrate
the clinical manifestations of apical hypertrophic cardiomyopathy (ApHCM). ApHCM is
a rare morphological variant of HCM characterized by nonobstructive hypertrophy
localized at the cardiac apex.
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In Copyright(All Rights Reserved)