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Hypertrophic Cardiomyopathy: A Review of Clinical and Molecular Characteristics and Effects and A Clinical Case Study
AuthorFreitas, Natalie E.
AdvisorBaker, Josh E.
Biochemistry and Molecular Biology
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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.