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Inherited cardiomyopathies caused by mutations resulting in metabolic impairments: searching for novel therapeutic approaches.

Cardiomyopathies are a group of clinically heterogeneous cardiovascular disorders characterized by abnormal cardiac structure and/or function. The two major categories are dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM). The treatment of DCM and HCM is aimed at alleviating symptoms and preventing disease progression, using medications such as beta-blockers, inhibitors of rennin-angiotensin-aldosterone system (RAAS) and diuretics. Due to the lack of specific/targeted treatments for cardiomyopathies, there is an urgent need for treatments focused on disease mechanisms to prevent symptomatic progression rather than with the indirect functional consequences, such as heart failure. Therefore, we will test the leading hypothesis that intervening with the biochemical/metabolic consequences of the specific mutations causing inherited cardiomyopathy, will alleviate the cardiac impairments. To improve our understanding of cardiomyopathies caused by mutations resulting in metabolic derangements, and identify novel therapeutic modalities, new approaches are needed. Our hypothesis will be tested using: (1) induced Pluripotent Stem Cell (iPSC)-derived cardio myocytes  (iPSC-CMs) generated from patients with inherited metabolic cardiomyopathy; (2) respective mouse models, and (3) advanced metabolomics techniques to study the impaired metabolic functions and potential therapeutic interventions.

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