Clinical and Molecular Overview of Hypertrophic Cardiomyopathy through JPH-2 Mutations and Presentation in Clinical Case Study
Authors
Yeung, Justin
Issue Date
2013
Type
Thesis
Language
en_US
Keywords
Alternative Title
Abstract
Hypertrophic Cardiomyopathy (HCM) is a disease which presents a distinct
morphological change in cardiac tissue. Pathology of the disease widely ranges from
being largely asymptomatic to the sudden onset of cardiac death. The disease’s etiology
stems from genetic mutations in various components of the sarcomere such as the myosin
binding regions. One particular mutation affecting calcium handling in the sarcoplasmic
reticulum, JPH-2, manifests as a possible mechanism for the onset of sudden death and
histological features consistent with myocardial disarray. This thesis aims to understand
junctional complex gene’s, JPH-2, maintenance of the dyadic cleft and how mutants
variants result in pathogenesis of HCM.
Hypertrophic Cardiomyopathy’s clinical presentation is highlighted in the
subsequent case study, of Paco Sanchez. The case study seeks to emphasis the use of
laboratory diagnostics and treatment of HCM. The social effects of HCM and treatment
beyond the use of medicine are of importance in handling the onset of such disease.
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