Revista de Farmacologia Clínica e Experimental

Abstrato

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

Yaqob Samir Taleb*, Paras Memon, Aftab Jalbani, Nouf Al-Mutairi, Sarah Al-Mukhaylid, Nawaf Al Anazi, Abdulkareem Al-Garni, Muneera Altaweel, Muhammad Aamir Khan, Muhammad Farooq Sabar, Zafar Iqbal*

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 Cardiomyopathy (ACM) 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 modelling 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.