Familial Hypertrophic Cardiomyopathy and Sustainable Healthcare: Genetic Insights, Clinical Implications, and Future Therapeutic Strategies for Global Health
Abstract
Familial Hypertrophic Cardiomyopathy (FHC) is a genetic disorder characterized by abnormal thickening of the heart muscle, often leading to serious cardiovascular complications, including heart failure and sudden cardiac death. This review provides a comprehensive overview of the molecular mechanisms underlying FHC, emphasizing the role of sarcomeric protein mutations and their impact on cardiac function. Advances in genetic screening, particularly in identifying at-risk individuals, are discussed alongside the evolving landscape of clinical diagnostics, including imaging techniques and biomarker assessments. We also examine the latest therapeutic approaches, ranging from pharmacological treatments to innovative interventions like gene therapy and myectomy. The implications for personalized medicine, risk stratification, and long-term management are explored, aiming to improve patient outcomes and quality of life. Future research directions and challenges in bridging the gap between genotype and phenotype are highlighted
References
Wolf, C. M. (2019). Hypertrophic cardiomyopathy: genetics and clinical perspectives. Cardiovascular diagnosis and therapy, 9(Suppl 2), S388.
Lopes, L. R., Ho, C. Y., & Elliott, P. M. (2024). Genetics of hypertrophic cardiomyopathy: established and emerging implications for clinical practice. European Heart Journal, 45(30), 2727-2734.
Mazzarotto, F., Olivotto, I., Boschi, B., Girolami, F., Poggesi, C., Barton, P. J., & Walsh, R. (2020). Contemporary insights into the genetics of hypertrophic cardiomyopathy: toward a new era in clinical testing?. Journal of the American Heart Association, 9(8), e015473.
Sharma, B., & Choudhary, K. (2025). Genetic insights and clinical implication of inherited hypertrophic cardiomyopathy. Multidisciplinary Reviews, 8(1), 2025008-2025008.
Marian, A. J., & Roberts, R. (1995). Recent advances in the molecular genetics of hypertrophic cardiomyopathy. Circulation, 92(5), 1336-1347.
Kraker, J., Viswanathan, S. K., Knöll, R., & Sadayappan, S. (2016). Recent advances in the molecular genetics of familial hypertrophic cardiomyopathy in South Asian descendants. Frontiers in Physiology, 7, 499.
Packard, E., de Feria, A., Peshin, S., Reza, N., & Owens, A. T. (2022). Contemporary therapies and future directions in the management of hypertrophic cardiomyopathy. Cardiology and therapy, 11(4), 491-507.
Ottaviani, A., Mansour, D., Molinari, L. V., Galanti, K., Mantini, C., Khanji, M. Y., ... & Ricci, F. (2023). Revisiting diagnosis and treatment of hypertrophic cardiomyopathy: current practice and novel perspectives. Journal of Clinical Medicine, 12(17), 5710.
Maron, B. J., Maron, M. S., & Semsarian, C. (2012). Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. Journal of the American College of Cardiology, 60(8), 705-715.
Efthimiadis, G. K., Pagourelias, E. D., Gossios, T., & Zegkos, T. (2014). Hypertrophic cardiomyopathy in 2013: Current speculations and future perspectives. World journal of cardiology, 6(2), 26.
Pradeep, R., Akram, A., Proute, M. C., Kothur, N. R., Georgiou, P., Serhiyenia, T., ... & Mostafa, J. A. (2021). Understanding the genetic and molecular basis of familial hypertrophic cardiomyopathy and the current trends in gene therapy for its management. Cureus, 13(8).
Kawashiri, M. A., Hayashi, K., Konno, T., Fujino, N., Ino, H., & Yamagishi, M. (2014). Current perspectives in genetic cardiovascular disorders: from basic to clinical aspects. Heart and vessels, 29, 129-141.
Kim, K. H., & Pereira, N. L. (2021). Genetics of cardiomyopathy: clinical and mechanistic implications for heart failure. Korean Circulation Journal, 51(10), 797.
Stafford, F., Thomson, K., Butters, A., & Ingles, J. (2021). Hypertrophic cardiomyopathy: genetic testing and risk stratification. Current cardiology reports, 23, 1-9.
Geske, J. B., Ommen, S. R., & Gersh, B. J. (2018). Hypertrophic cardiomyopathy: clinical update. JACC: heart failure, 6(5), 364-375.
Semsarian, C., Ingles, J., Maron, M. S., & Maron, B. J. (2015). New perspectives on the prevalence of hypertrophic cardiomyopathy. Journal of the American College of Cardiology, 65(12), 1249-1254.
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