{"id":{"repo_id":"unr","oai_identifier":"oai:scholarwolf.unr.edu:11714/653"},"canonical_url":"https://search.dev.ndltd.org/etd/unr/oai:scholarwolf.unr.edu:11714/653","repository":{"repo_id":"unr","name":"University of Nevada - Reno","base_url":"https://scholarwolf.unr.edu/server/oai/request"},"display":{"title":"Hypertrophic Cardiomyopathy: A Review of Clinical and Molecular Characteristics and Effects and A Clinical Case Study","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.","abstract_html":"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.","abstract_has_math":false,"creators":["Freitas, Natalie E."],"institution":"University of Nevada, Reno","degree_name":"Biochemistry","degree_level":"Honors Thesis","degree_discipline":null,"degree_department":null,"school":null,"contributors":[],"advisors":["Baker, Josh E."],"committee_chairs":[],"committee_members":[],"year":2014,"date_issued":"2014","date_published":"2014","updated_at":"2026-07-27T21:47:36Z","subjects":[],"languages":["en_US","English"],"rights":["In Copyright(All Rights Reserved)"],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"http://hdl.handle.net/11714/653","outbound_label":"Handle","outbound_source":"dc:identifier.uri"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor.advisor","label":"Advisor","values":["Baker, Josh E."]},{"key":"dc:creator","label":"Author","values":["Freitas, Natalie E."]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date.accessioned","label":"Dc Date Accessioned","values":["2017-01-24T23:09:19Z"]},{"key":"dc:date.available","label":"Dc Date Available","values":["2017-01-24T23:09:19Z"]},{"key":"dc:date.issued","label":"Date","values":["2014"]},{"key":"dc:type","label":"Dc Type","values":["Thesis"]},{"key":"thesis:degree_level","label":"Degree Level","values":["Honors Thesis"]},{"key":"thesis:degree_name","label":"Degree Name","values":["Biochemistry"]},{"key":"thesis:institution_name","label":"Thesis Institution Name","values":["University of Nevada, Reno"]}]},{"id":"language_rights","label":"Language and Rights","entries":[{"key":"dc:language","label":"Dc Language","values":["English"]},{"key":"dc:language.iso","label":"Language (ISO)","values":["en_US"]},{"key":"dc:rights","label":"Dc Rights","values":["In Copyright(All Rights Reserved)"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier.uri","label":"Identifier URI","values":["http://hdl.handle.net/11714/653"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description","label":"Description","values":["The University of Nevada, Reno Libraries will promptly respond to removal requests related to content that violates intellectual property laws, data protections, or has been uploaded without creator consent. Takedown notices should be directed to our ScholarWolf team (scholarwolf@library.unr.edu) with information about the object, including its full URL and the nature of your complaint."]},{"key":"dc:description.abstract","label":"Abstract","values":["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."]},{"key":"dc:format","label":"Dc Format","values":["PDF"]},{"key":"dc:title","label":"Title","values":["Hypertrophic Cardiomyopathy: A Review of Clinical and Molecular Characteristics and Effects and A Clinical Case Study"]}]}],"canonical_facts":{"dc:contributor.advisor":["Baker, Josh E."],"dc:creator":["Freitas, Natalie E."],"dc:date.accessioned":["2017-01-24T23:09:19Z"],"dc:date.available":["2017-01-24T23:09:19Z"],"dc:date.issued":["2014"],"dc:description":["The University of Nevada, Reno Libraries will promptly respond to removal requests related to content that violates intellectual property laws, data protections, or has been uploaded without creator consent. Takedown notices should be directed to our ScholarWolf team (scholarwolf@library.unr.edu) with information about the object, including its full URL and the nature of your complaint."],"dc:description.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."],"dc:format":["PDF"],"dc:identifier.uri":["http://hdl.handle.net/11714/653"],"dc:language":["English"],"dc:language.iso":["en_US"],"dc:rights":["In Copyright(All Rights Reserved)"],"dc:title":["Hypertrophic Cardiomyopathy: A Review of Clinical and Molecular Characteristics and Effects and A Clinical Case Study"],"dc:type":["Thesis"],"thesis:degree_level":["Honors Thesis"],"thesis:degree_name":["Biochemistry"],"thesis:institution_name":["University of Nevada, Reno"]},"updated_at":"2026-07-27T21:47:36Z"}