Clinical and Molecular Overview of Hypertrophic Cardiomyopathy through JPH-2 Mutations and Presentation in Clinical Case Study

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.