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 modeling eras
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 targete...
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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Saudi Journal for Health Sciences |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/sjhs.sjhs_95_24 |
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| Summary: | 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, dilated cardiomyopathy, arrhythmogenic cardiomyopathy, and restrictive cardiomyopathy–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. |
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| ISSN: | 2278-1900 |