Hematology, Oncology & Pharmacogenetic Engineering Sciences Group (HOPES), Centre for Applied Molecular Biology (CAMB), University of the Punjab, Lahore, Pakistan
Review Article
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
Author(s): 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 and 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 me.. View more»