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Gene Editing in Cardiac Disease: A Review of the Literature
Naitik K Singh1, Madison L Weckerly1, Robert A Abrahams1
1Department of Medicine, New York Medical College, Valhalla, NY.
Insights
Inherited cardiac diseases are genetic conditions causing significant health issues. Gene editing and induced pluripotent stem cell-derived cardiomyocytes show promise for future treatments, but require further research and ethical consideration.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Inherited cardiac diseases, including cardiomyopathies and channelopathies, are significant causes of morbidity and sudden cardiac death.
- Genetic mutations in genes like KCNQ1, KCNH2, and MYBPCF3 lead to conditions such as long QT syndrome, hypertrophic cardiomyopathy, and dilated cardiomyopathy.
- X-linked disorders like Danon and Fabry disease also contribute to systemic cardiomyopathy, underscoring the genetic and phenotypic variability.
Purpose of the Study:
- To review current diagnostic and treatment strategies for inherited cardiac diseases.
- To evaluate the potential of emerging technologies like induced pluripotent stem cell-derived cardiomyocytes (PSC-CMs) and gene editing.
- To discuss the challenges and ethical considerations in translating these advanced therapies into clinical practice.
Main Methods:
- A comprehensive review of over 40 peer-reviewed articles published between 2010 and 2025.
- Analysis of clinical studies, preclinical research, and reviews focusing on genetic mechanisms, disease models, and gene-editing techniques.
- Emphasis on molecular pathology, therapeutic options, and ethical/regulatory issues.
Main Results:
- Induced pluripotent stem cell-derived cardiomyocytes (PSC-CMs) and gene editing present promising therapeutic avenues for inherited cardiac conditions.
- Somatic gene editing is considered feasible for therapeutic applications.
- Translating these advanced therapies requires improvements in delivery methods, rigorous safety testing, and long-term evaluation.
Conclusions:
- Genome-editing and iPSC technologies are powerful tools for understanding and treating inherited cardiac diseases.
- While somatic gene editing shows promise, germline modifications face significant ethical and legal obstacles.
- Further research is essential to overcome challenges in delivery, safety, and long-term efficacy for clinical translation.
Abstract:
Inherited cardiac diseases, including cardiomyopathies and channelopathies, are major contributors to morbidity and sudden cardiac death. Conditions such as long QT syndrome, hypertrophic cardiomyopathy, and dilated cardiomyopathy result from mutations in genes like KCNQ1, KCNH2, and MYBPCF3. X-linked disorders such as danon (lysosomal-associated membrane protein 2) and fabry (generalized lymphatic anomaly) also cause systemic cardiomyopathy. The genetic and phenotypic variability of these disorders highlights the importance of reviewing current diagnostic and treatment strategies. A thorough review of over 40 peer-reviewed articles published between 2010 and 2025 was performed. These included clinical studies, preclinical research, and reviews focusing on genetic mechanisms, disease models, and gene-editing techniques in inherited cardiac conditions. Selected sources emphasized relevance to molecular pathology, therapeutic options, ethical or regulatory issues, minimization, and graft survival. While PSC-CMs and gene editing hold promising therapeutic potential, translating these approaches into human treatments requires improved delivery methods, extensive safety testing, and long-term evaluation. Genome-editing and iPSC technologies are powerful tools for understanding and treating inherited cardiac diseases. Somatic gene editing is generally feasible, whereas germline modifications face ethical and legal obstacles.
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