Current approaches and future perspectives on hypertrophic cardiomyopathy

Authors

DOI:

https://doi.org/10.11606/issn.1679-9836.v103i6e-222662

Keywords:

Sudden cardiac death, Hypertrophic Cardiomyopathy, Heart Failure

Abstract

Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disorder characterized by significant myocardial hypertrophy and varying degrees of fibrosis, affecting approximately 0.2% of the general population, with a higher prevalence in those with cardiac conditions. Despite its frequency, HCM remains underdiagnosed due to its broad clinical spectrum. The disease is equally prevalent in men and women, presenting in forms ranging from mild to severe, and it is the leading cause of sudden cardiac death in adolescents and young adults, particularly athletes. Recent advances in genetic engineering and biotechnology have significantly improved the understanding, diagnosis, and treatment of HCM, emphasizing the importance of early diagnosis in preventing severe complications. This review synthesizes findings from a narrative literature review, highlighting advances in risk stratification, gene therapy, biomarker utilization, and the need for further research to make these innovations more widely available in clinical practice. The study also examines the disease's pathophysiology, genetics, diagnostic methods, and treatment strategies, underlining the importance of personalized approaches to managing HCM.

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Author Biographies

  • Hanin El Husseini El Husseini, Positive University

    Medical student at Universidade Positivo, Curitiba, Paraná. Class representative for 2021-2022 and 2022-2023. Coordinator of the women's futsal team for the Medicine program at Universidade Positivo: 2022-2023. Member of the board of the Academic Center of Medicine Zilda Arns (CAZA): 2022-2023. National Coordinator of Programs (CNP) for NCDs (Non-Communicable Chronic Diseases) and Healthy Lifestyle Habits at IFMSA-Brazil: 2022-2023. Vice-President of LASEMP (Academic League of Semiology of PUC-PR): 2022-2023. Director of Internships at LAPSI (Academic Psychiatry League of Curitiba): 2023-2024. Vice-President of the Academic Center of Medicine Zilda Arns (CAZA): 2023-2024. Local Coordinator of IFMSA-Positivo: 2021-present. Vice-President of LAOFT-IPO (Academic League of Ophthalmology of IPO Hospital): 2023-present. Academic Director of LANNCx INC (Academic League of Neurology and Neurosurgery of INC Hospital): 2024-present. General Coordinator of Internships and Experiences at CLEV-UP: 2023-present.

    Research Projects: one in progress and two completed.

  • Eise Souza do Vale, Positive University

    Medical student at Positivo University, currently affiliated with the Academic League of Transplants and Organs and Tissues of PUCPR (LATOT), Academic League of Medicine in Remote Areas of UFPR (LIMAR), Academic League of Orthopedics of HUC (LOTHUC), Academic League of Entrepreneurship and Innovation of PUCPR (LAEMPIS), Academic League of Anesthesiology of the Workers' Hospital (LAAHT), Academic League of Vascular and Endovascular Surgery of HUEM (LACVE), Academic League of Cardiology of the Brazilian Red Cross Hospital (LACCruz), and serving as a board member of the Academic League of Medical Semiology of PUCPR (LAEMPIS). Voluntary intern at Erasto Gaertner Hospital, Emergency Room at the Workers' Hospital, and Doctors of the Street. Affiliated with the Brazilian Society of Clinical Medicine, Brazilian Society of Cardiology, and Brazilian Society of Family and Community Medicine.

  • Erika Resner Zschoerper, Positive University

    7th-semester medical student at Positivo University. Currently serving as a board member of the Academic League of Health and Primary Care (LASAP). Volunteering since 2021 in the social project "Médicos de Rua" in Curitiba. Amid the pandemic, provided telehealth volunteer services for COVID-19 at the Brazilian Red Cross Hospital in Curitiba from 2021 until 2022.

       

     

  • Luiz Antonio Fruet Bettini, Hospital Nossa Senhora das Graças

    Medical degree from the Federal University of Paraná (1981) and a master's degree in Medicine (Cardiology) from the Federal University of Paraná (1993). Currently, he works as a physician at Hospital Nossa Senhora das Graças, as a physician at Gastrocor Ltda, as a physician at Quanta Diagnóstico e Terapia, and as a employee of Universidade Positivo. He is a professor of medicine in the Medicine program, teaching Clinical Medicine and Semiology. He completed a Ph.D. in Public Security from UFPR and the Military Police of Paraná. He has experience in the field of Medicine, with an emphasis on Cardiology, focusing primarily on ischemia, heat, arterial hypertension, military police, and teaching strategies.

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Published

2024-11-04

Issue

Section

Artigos de Revisão/Review Articles

How to Cite

El Husseini, H. E. H., Vale, E. S. do, Zschoerper, E. R., Ferraz, M. L. V. ., Ferreiro, M. R. ., Falkowski , R. S. ., & Bettini, L. A. F. . (2024). Current approaches and future perspectives on hypertrophic cardiomyopathy. Revista De Medicina, 103(6), e-222662. https://doi.org/10.11606/issn.1679-9836.v103i6e-222662