Preprint Review Version 1 This version is not peer-reviewed

Genotype-Phenotype Correlations in Inherited Cardiomyopathies, Their Role in Clinical Decision-Making and Implications in Personalized Cardiac Medicine in Multi-omics as Well as Disease Modelling Eras

Version 1 : Received: 8 August 2024 / Approved: 9 August 2024 / Online: 9 August 2024 (12:13:29 CEST)

How to cite: Taleb, Y. S.; Memon, P.; Jalbani, A. A.; AlMutairi, N.; Al Mukhaylid, S.; Alanazi, N.; Al-Garni, A.; Altaweel, M.; Aamir Khan, M.; Farooq Sabar, M.; Iqbal, Z. Genotype-Phenotype Correlations in Inherited Cardiomyopathies, Their Role in Clinical Decision-Making and Implications in Personalized Cardiac Medicine in Multi-omics as Well as Disease Modelling Eras. Preprints 2024, 2024080682. https://doi.org/10.20944/preprints202408.0682.v1 Taleb, Y. S.; Memon, P.; Jalbani, A. A.; AlMutairi, N.; Al Mukhaylid, S.; Alanazi, N.; Al-Garni, A.; Altaweel, M.; Aamir Khan, M.; Farooq Sabar, M.; Iqbal, Z. Genotype-Phenotype Correlations in Inherited Cardiomyopathies, Their Role in Clinical Decision-Making and Implications in Personalized Cardiac Medicine in Multi-omics as Well as Disease Modelling Eras. Preprints 2024, 2024080682. https://doi.org/10.20944/preprints202408.0682.v1

Abstract

Inherited cardiomyopathies are a diverse group of heart muscle diseases caused by genetic mutations that result in structural and functional abnormalities of the myocardium. Understanding genotype-phenotype correlations in these conditions is vital for personalized cardiac medicine, enabling targeted therapeutic strategies and predictive diagnostics. This review explores the major types of inherited cardiomyopathies—hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM)—and provides detailed insights into how different genetic mutations manifest as clinical features. The integration of multi-omics approaches and advanced disease modeling techniques has enhanced our ability to dissect these correlations. The review also discusses the implications of these findings for personalized medicine, including tailored therapeutic strategies, predictive diagnostics, and future research directions.

Keywords

Cardiomyopathy; Multi-omics techniques; personalized medicine; genetic testing

Subject

Medicine and Pharmacology, Cardiac and Cardiovascular Systems

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