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Advancements in the Epidemiology, Diagnosis and Treatment of Hypertrophic Cardiomyopathy
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Advancements in the Epidemiology, Diagnosis and Treatment of Hypertrophic Cardiomyopathy

A special issue of Journal of Cardiovascular Development and Disease (ISSN 2308-3425).

Deadline for manuscript submissions: closed (30 September 2025) | Viewed by 23794

Editor

Dr. Christos G. Mihos

E-Mail Website
Guest Editor
Echocardiography & Non-Invasive Cardiovascular Laboratory, Division of Cardiology, Mount Sinai Medical Center, Miami Beach, FL 33140, USA
Interests: cardiomyopathy; cardiovascular physiology; hypertrophic cardiomyopathy; speckle-tracking echocardiography; strain echocardiography; valvular heart disease
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Hypertrophic cardiomyopathy is a heterogeneous clinical disorder with a variable morphologic expression and an increasingly recognized prevalence in the cardiovascular patient community. In the past decade, we have seen exponential growth in the available modalities for patient diagnosis and risk stratification, as well as in treatment options ranging from medical therapy to percutaneous and surgical interventions. The aim of this Special Issue is to highlight this progress from the perspective of international experts across multi-disciplinary modalities via review articles, brief editorials, case reports, or original research. We encourage all interested authors to submit their work and share their experiences of this growing and complex patient population.

Dr. Christos G. Mihos
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Cardiovascular Development and Disease is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • alcohol septal ablation
  • CHF
  • heart failure
  • HOCM
  • hypertrophic cardiomyopathy
  • mavacamten
  • mitral valve regurgitation
  • septal myectomy
  • systolic anterior motion

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Published Papers (5 papers)

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Research

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14 pages, 2225 KB  
Article
Genetic Spectrum, Clinical Characteristics, and Molecular Pathogenesis of Hypertrophic Cardiomyopathy Requiring Heart Transplantation
by Sofiya Andreeva, Lyubov Korneva, Mariya Marusova, Yulia Sazonova, Alexandra Gudkova, Anna Streltsova, Svetlana Fetisova, Maria Simonenko, Anna Fanta, Andrei Semenov, Maria Bortsova, Lubov Mitrofanova, Olga Moiseeva, Alexandr Bobylev, Lidiya Gavrilova, Ivan Vikhlyantsev, Petr Fedotov and Anna Kostareva
J. Cardiovasc. Dev. Dis. 2025, 12(12), 499; https://doi.org/10.3390/jcdd12120499 - 17 Dec 2025
Cited by 1 | Viewed by 1070
Abstract
Hypertrophic cardiomyopathy (HCM) progressing to end-stage heart failure and heart transplantation (HT) is a rare clinical scenario with an insufficiently explored genetic background. In this single-center retrospective cohort study, we aimed to characterize the genetic spectrum, variants of HCM adverse remodeling, and aspects [...] Read more.
Hypertrophic cardiomyopathy (HCM) progressing to end-stage heart failure and heart transplantation (HT) is a rare clinical scenario with an insufficiently explored genetic background. In this single-center retrospective cohort study, we aimed to characterize the genetic spectrum, variants of HCM adverse remodeling, and aspects of molecular pathogenesis of this subgroup. The study included 14 patients (9 females), among whom 10 developed a dilated/hypokinetic phenotype and 4 a restrictive phenotype. In 13 patients (93%), at least one pathogenic or likely pathogenic genetic variant was identified. Dilated remodeling/hypokinesis was associated with loss-of-function variants in LAMP2 (3) in females, ALPK3homo (1), MYH7 (1), MYBPC3 (1), a heterozygous missense variant in TRIM63 (1), FLNCtv (1), TTNtv (2). For the latter two, electrophoretic analysis of titin isoform composition and protein content in myocardial fragments from explanted hearts confirmed the functional significance of TTN gene variants. The restrictive phenotype in the adult group was associated with carriage of multiple pathogenic sarcomere gene variants: MYL3homo (1), MYBPC3+TPM1 (1), an MYH7 converter domain variant (1), and, in one child, with a TNNT2 variant. This findings support HCM progressing to HT is characterized by a higher frequency of variants in non-sarcomeric genes and Danon disease compared to the general HCM cohort. Full article
(This article belongs to the Special Issue Advancements in the Epidemiology, Diagnosis and Treatment of Hypertrophic Cardiomyopathy)
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13 pages, 2947 KB  
Article
Interventricular Septal Involvement Is Associated with More Impaired Ventricular Function and Mechanics in Apical Hypertrophic Cardiomyopathy
by Christos G. Mihos, Tarec K. Elajami, Deepika Misra, Pranav Venkataraman, Nicholas Gosdenovich and Rafle Fernandez
J. Cardiovasc. Dev. Dis. 2024, 11(3), 74; https://doi.org/10.3390/jcdd11030074 - 21 Feb 2024
Cited by 2 | Viewed by 3173
Abstract
Background: The interventricular septum has an important role in bi-ventricular performance. We hypothesized that septal involvement in apical hypertrophic cardiomyopathy (ApHCM-Mixed) adversely impacts ventricular structure and function when compared with isolated apical hypertrophy (ApHCM-Pure). Methods: A total of 72 patients (ApHCM-Mixed = 36, [...] Read more.
Background: The interventricular septum has an important role in bi-ventricular performance. We hypothesized that septal involvement in apical hypertrophic cardiomyopathy (ApHCM-Mixed) adversely impacts ventricular structure and function when compared with isolated apical hypertrophy (ApHCM-Pure). Methods: A total of 72 patients (ApHCM-Mixed = 36, ApHCM-Pure = 36) with serial 2D and speckle-tracking echocardiographic analyses were identified. Ventricular function and mechanics were characterized by left (LV) and right (RV) ventricular global longitudinal strain (GLS), RV free wall strain, and LV myocardial work indices, and clinical events were adjudicated. Results: Clinical characteristics were similar between groups (mean age, 66 ± 15 years; 49% female; LV ejection fraction, 68 ± 11%). The ApHCM-Mixed group had larger LV mass indexes (141 ± 39 vs. 111 ± 30 g/m2, p < 0.001), worse LV (−9.6 ± 3.1 vs. −14.4 ± 3.4%, p < 0.001) and RV GLS (−14.3 ± 6.7 vs. −19.2 ± 5.2%, p = 0.001), impaired RV free wall strain (−18.5 ± 7.4 vs. −22.4 ± 6.3%, p = 0.02), and lower LV myocardial work indices including global work index (938 ± 306 vs. 1272 ± 339 mmHg%, p < 0.001), when compared with the ApHCM-Pure group. At a mean follow-up of 3.9 years, these differences all persisted. Five deaths were observed, all occurring in the ApHCM-Mixed group (14% vs. 0, p = 0.05), and with four being cardiac-related. This subgroup had a mean LV ejection fraction of 63%, LV GLS of −8.7%, an LV global work index of 875 mmHg%, and RV free wall strain of −15.9%, indicating significant subclinical bi-ventricular dysfunction. Conclusions: ApHCM-Mixed represents a distinct morphology in hypertrophic cardiomyopathy associated with more impaired ventricular function and mechanics when compared with ApHCM-Pure. Full article
(This article belongs to the Special Issue Advancements in the Epidemiology, Diagnosis and Treatment of Hypertrophic Cardiomyopathy)
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Review

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24 pages, 1623 KB  
Review
Exploring the Current Status of Risk Stratification in Hypertrophic Cardiomyopathy: From Risk Models to Promising Techniques
by Alexandros Kasiakogias, Christos Kaskoutis, Christos-Konstantinos Antoniou, Stavros Georgopoulos, Dimitrios Tsiachris, Petros Arsenos, Alexandrina Kouroutzoglou, Dimitrios Klettas, Charalambos Vlachopoulos, Konstantinos Tsioufis and Konstantinos Gatzoulis
J. Cardiovasc. Dev. Dis. 2025, 12(3), 101; https://doi.org/10.3390/jcdd12030101 - 14 Mar 2025
Cited by 3 | Viewed by 5586
Abstract
Improving clinical prediction of sudden cardiac death is a crucial step in the management of patients with hypertrophic cardiomyopathy. However, finding the optimal method for risk evaluation has been challenging, given the complexity and the wide variation in clinical phenotypes. This is particularly [...] Read more.
Improving clinical prediction of sudden cardiac death is a crucial step in the management of patients with hypertrophic cardiomyopathy. However, finding the optimal method for risk evaluation has been challenging, given the complexity and the wide variation in clinical phenotypes. This is particularly important, as these patients are often of younger age and defibrillator implantation is associated with a low but tangible long-term risk of adverse events. A number of risk factors, including degree of hypertrophy, presence of syncope and family history of sudden cardiac death, have typically been considered to indicate a higher risk. The European risk score for prediction of sudden cardiac death is widely used; however, it may not apply well in patients with specific forms of the condition, such as those with extreme hypertrophy. Increasing evidence suggests that the presence and extent of myocardial fibrosis assessed with cardiac magnetic resonance imaging should be considered in clinical decision-making. Some research suggests that integrating electrophysiological studies into traditional risk assessment models may further optimize risk prediction and significantly improve accuracy in detecting high risk patients. Novel cardiac imaging techniques, better understanding of the genetic substrate and artificial intelligence-based algorithms may prove promising for risk refinement. The present review article provides an updated and in-depth viewpoint. Full article
(This article belongs to the Special Issue Advancements in the Epidemiology, Diagnosis and Treatment of Hypertrophic Cardiomyopathy)
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24 pages, 1158 KB  
Review
Tailored Therapies for Cardiogenic Shock in Hypertrophic Cardiomyopathy: Navigating Emerging Strategies
by George E. Zakynthinos, Ioannis Gialamas, Vasiliki Tsolaki, Panteleimon Pantelidis, Athina Goliopoulou, Maria Ioanna Gounaridi, Ioanna Tzima, Andrew Xanthopoulos, Konstantinos Kalogeras, Gerasimos Siasos and Evangelos Oikonomou
J. Cardiovasc. Dev. Dis. 2024, 11(12), 401; https://doi.org/10.3390/jcdd11120401 - 11 Dec 2024
Cited by 5 | Viewed by 7686
Abstract
Hypertrophic cardiomyopathy (HCM) is a complex and heterogeneous cardiac disorder, often complicated by cardiogenic shock, a life-threatening condition marked by severe cardiac output failure. Managing cardiogenic shock in HCM patients presents unique challenges due to the distinct pathophysiology of the disease, which includes [...] Read more.
Hypertrophic cardiomyopathy (HCM) is a complex and heterogeneous cardiac disorder, often complicated by cardiogenic shock, a life-threatening condition marked by severe cardiac output failure. Managing cardiogenic shock in HCM patients presents unique challenges due to the distinct pathophysiology of the disease, which includes dynamic left ventricular outflow tract obstruction, diastolic dysfunction, and myocardial ischemia. This review discusses current and emerging therapeutic strategies tailored to address the complexities of HCM-associated cardiogenic shock and other diseases with similar pathophysiology that provoke left ventricular outflow tract obstruction. We explore the role of pharmacological interventions, including the use of vasopressors and inotropes, which are crucial in stabilizing hemodynamics but require careful selection to avoid exacerbating the outflow obstruction. Additionally, the review highlights advancements in mechanical circulatory support devices such as extracorporeal membrane oxygenation (ECMO) and left ventricular assist devices (LVADs), which have become vital in the acute management of cardiogenic shock. These devices provide temporary support and bridge patients to recovery, definitive therapy, or heart transplantation, which remains a critical option for those with end-stage disease. Furthermore, the review delves into the latest research and clinical trials that are refining these therapeutic approaches, ensuring they are optimized for HCM patients. The impact of these treatments on patient outcomes, including survival rates and quality of life, is also critically assessed. In conclusion, this review underscores the importance of a tailored therapeutic approach in managing cardiogenic shock in HCM patients, integrating pharmacological and mechanical support strategies to improve outcomes in this high-risk population. Full article
(This article belongs to the Special Issue Advancements in the Epidemiology, Diagnosis and Treatment of Hypertrophic Cardiomyopathy)
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18 pages, 1816 KB  
Review
Advancements in the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: A Comprehensive Review
by Randeep Gill, Arsalan Siddiqui, Brianna Yee, Michael V. DiCaro, Nazanin Houshmand and Tahir Tak
J. Cardiovasc. Dev. Dis. 2024, 11(9), 290; https://doi.org/10.3390/jcdd11090290 - 18 Sep 2024
Cited by 4 | Viewed by 4715
Abstract
Hypertrophic cardiomyopathy (HCM) is characterized by excessive growth of myocardial tissue, most commonly due to genetic mutations in sarcomere proteins. This can lead to complications such as heart failure, mitral regurgitation, syncope, arrhythmias, sudden cardiac death, and myocardial ischemia. While we have come [...] Read more.
Hypertrophic cardiomyopathy (HCM) is characterized by excessive growth of myocardial tissue, most commonly due to genetic mutations in sarcomere proteins. This can lead to complications such as heart failure, mitral regurgitation, syncope, arrhythmias, sudden cardiac death, and myocardial ischemia. While we have come a long way in our understanding of the pathophysiology, genetics, and epidemiology of HCM, the past 10 years have seen significant advancements in diagnosis and treatment. As the body of evidence on hypertrophic cardiomyopathy continues to grow, a comprehensive review of the current literature is an invaluable resource in organizing this knowledge. By doing so, the vast progress that has been made thus far will be widely available to all experts in the field. This review provides a comprehensive analysis of the scientific literature, exploring both well-established and cutting-edge diagnostic and therapeutic options. It also presents a unique perspective by incorporating topics such as exercise testing, genetic testing, radiofrequency ablation, risk stratification, and symptomatic management in non-obstructive HCM. Lastly, this review highlights areas where current and future research is at the forefront of innovation in hypertrophic cardiomyopathy. Full article
(This article belongs to the Special Issue Advancements in the Epidemiology, Diagnosis and Treatment of Hypertrophic Cardiomyopathy)
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