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Advanced Research in Hypertrophic Cardiomyopathy
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Advanced Research in Hypertrophic Cardiomyopathy

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 31 October 2025 | Viewed by 3602

Special Issue Editors

Dr. Said Alsidawi

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Guest Editor
Department of Cardiovascular Medicine, Mayo Clinic, Phoenix, AZ 85054, USA
Interests: hypertrophic cardiomyopathy; the role of myosin inhibitors in positive cardiac remodeling; valvular heart disease research
Dr. Juan Farina

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Guest Editor
Department of Cardiovascular Medicine, Mayo Clinic, Phoenix, AZ 85054, USA
Interests: cardiology research; research methodologies and biostatistics
Dr. Celestino Sardu

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Guest Editor
Department of Medical, Surgical, Neurological, Metabolic and Aging Sciences, University of Campania "Luigi Vanvitelli", Piazza Miraglia, 80138 Naples, Italy
Interests: clinical cardiology; myocardial infarction; cardiovascular genetics; clinical electrophysiology; molecular cardiology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue will focus on everything new in the risk stratification and management of hypertrophic cardiomyopathy, addressing the following:

  • New trends in the treatment of hypertrophic cardiomyopathy (HCM) and the role of myosin inhibitors;
  • Advantages and disadvantages of traditional and new therapies for HCM: septal reduction therapy vs. myosin inhibitors;
  • Risk of arrhythmias while on myosin inhibitors;
  • Treatment on the horizon for hypertrophic cardiomyopathy beyond myosin inhibitors;
  • Gene therapy for hypertrophic cardiomyopathy;
  • Contemporary trends in the risk stratification of sudden cardiac death in HCM;
  • New research on understanding the genetic nature of HCM, focusing on the management and follow up of patients with genetically positive/phenotypically negative HCM profiles.

Dr. Said Alsidawi
Dr. Juan Maria Farina
Dr. Celestino Sardu
Guest Editors

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 100 words) can be sent to the Editorial Office for announcement on this website.

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-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomedicines 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 2600 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

  • hypertrophic cardiomyopathy
  • myosin inhibitors
  • genetic therapy
  • risk stratification

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Published Papers (6 papers)

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Research

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11 pages, 742 KiB  
Article
Incidence and Predictors of Right Ventricular Reverse Remodeling in Patients with Transthyretin Amyloid Cardiomyopathy Treated with Tafamidis
by Nicoleta Nita, Dominik Felbel, Michael Paukovitsch, Felix von Sanden, Elene Walter, Rima Melnic, Wolfgang Rottbauer, Dominik Buckert and Johannes Mörike
Biomedicines 2025, 13(5), 1211; https://doi.org/10.3390/biomedicines13051211 - 16 May 2025
Viewed by 357
Abstract
Background/Objectives: In patients with transthyretin amyloid cardiomyopathy (ATTR-CM), the effect of tafamidis on right ventricular (RV) dysfunction has been poorly investigated. The purpose of this study was to evaluate the effect of tafamidis on RV free wall global longitudinal strain (RV FW-GLS) [...] Read more.
Background/Objectives: In patients with transthyretin amyloid cardiomyopathy (ATTR-CM), the effect of tafamidis on right ventricular (RV) dysfunction has been poorly investigated. The purpose of this study was to evaluate the effect of tafamidis on RV free wall global longitudinal strain (RV FW-GLS) and right ventricular and pulmonary artery (RV-PA) coupling over 12 months of treatment. Methods: Ninety-three patients with ATTR-CM treated with 61 mg of tafamidis daily who underwent multimodality imaging evaluation at baseline by cardiovascular magnetic resonance (CMR) and speckle-tracking echocardiography were retrospectively studied. The 12-month follow-up included an echocardiographic assessment of RV FW-GLS and RV-PA coupling. RV reverse remodeling was defined as a >10% improvement in RV FW-GLS and/or in RV-PA coupling from baseline. RV-PA coupling was assessed using the tricuspid annular plane systolic excursion/ pulmonary artery systolic pressure (TAPSE/PASP) ratio. Results: Over 12 months of tafamidis treatment, RV reverse remodeling was documented in 22.6% of patients. In these patients, RV FW-GLS improved significantly from 14.5 ± 2.1% to 17.3 ± 2%, p < 0.001, whereas the TAPSE/PASP ratio improved from 0.42 ± 0.05 mm/mmHg to 0.54 ± 0.07 mm/mmHg, p = 0.001. Patients who experienced RV reverse remodeling were at an earlier stage of disease prior to tafamidis treatment with less dilated RV and less severe RV-PA uncoupling (TAPSE/PASP ratio: 0.43 ± 0.06 mm/mmHg vs. 0.39 ± 0.06 mm/mmHg, p = 0.040). CMR-derived baseline RV end-systolic volume (HR 0.83, 95% CI 0.73–0.94, p = 0.005) and NT-proBNP (HR 0.989, 95% CI 0.988–0.999, p = 0.024) were the strongest independent predictors of RV reverse remodeling, followed by PASP (HR 0.82, 95% CI 0.69–0.98, p = 0.030). Conclusions: Patients with ATTR-CM treated with tafamidis at an earlier stage of the disease experienced RV reverse remodeling with significant improvement in RV FW-GLS and RV-PA coupling. Full article
(This article belongs to the Special Issue Advanced Research in Hypertrophic Cardiomyopathy)
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11 pages, 427 KiB  
Article
Temporal Patterns of Holter-Detected Arrhythmias in Hypertrophic Cardiomyopathy Patients Treated with Mavacamten
by Amro Badr, Kaitlin Roehl, Mustafa Suppah, Humam Abo Abdullah, Reza Arsanjani, Konstantinos C. Siontis, Jeffrey B. Geske, Steve R. Ommen, John R. Giudicessi and Said Alsidawi
Biomedicines 2025, 13(4), 1005; https://doi.org/10.3390/biomedicines13041005 - 21 Apr 2025
Viewed by 596
Abstract
Background: Hypertrophic cardiomyopathy (HCM) is a genetic cardiomyopathy marked by increased left ventricular wall thickness, leading in some cases to left ventricular outflow tract (LVOT) obstruction, heart failure, and arrhythmias. Mavacamten, a selective allosteric inhibitor of cardiac myosin, has demonstrated benefits in improving [...] Read more.
Background: Hypertrophic cardiomyopathy (HCM) is a genetic cardiomyopathy marked by increased left ventricular wall thickness, leading in some cases to left ventricular outflow tract (LVOT) obstruction, heart failure, and arrhythmias. Mavacamten, a selective allosteric inhibitor of cardiac myosin, has demonstrated benefits in improving hemodynamics and reducing LVOT obstruction. However, its impact on arrhythmic burden remains unclear, with reports of early atrial fibrillation (AF) risk contrasting with long-term reductions in arrhythmias. This study assesses the temporal patterns of Holter-detected arrhythmias in HCM patients treated with mavacamten. Methods: This retrospective study included HCM patients from three Mayo Clinic sites. Baseline demographic, clinical, and echocardiographic data were collected. Holter monitoring was performed at baseline, short-term (<6 months), and long-term (>6 months) follow-up. Arrhythmic events, including premature atrial contractions (PACs), premature ventricular contractions (PVCs), and supraventricular tachycardia (SVT), were analyzed using standardized rates per 24 h. Statistical comparisons utilized the Wilcoxon signed-rank test. Results: Twenty-seven patients (56% female, median age 66 years) were included. PACs, PVCs, and SVT duration transiently but not significantly increased at short-term follow-up but returned to baseline at long-term follow-up. No sustained or high-risk ventricular arrhythmias were observed. Conclusions: Mavacamten is associated with transient arrhythmic fluctuations early in treatment, followed by stabilization. These findings support its long-term electrophysiological safety and underscore the need for early rhythm monitoring. Further research should explore its role in arrhythmic risk stratification in HCM patients. Full article
(This article belongs to the Special Issue Advanced Research in Hypertrophic Cardiomyopathy)
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12 pages, 1983 KiB  
Article
Effect of CBC-Derived Inflammatory Indicators in Predicting Chronic Kidney Disease Risk in Hypertrophic Cardiomyopathy Patients
by Changying Zhao, Luqin Yan, Yong Liu, Siyuan Chen, Beidi Lan, Ruohan Liu, Jinqi Xin, Tao Shi and Xiaohong Yang
Biomedicines 2025, 13(4), 997; https://doi.org/10.3390/biomedicines13040997 - 20 Apr 2025
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Abstract
Background: Hypertrophic cardiomyopathy (HCM) is a prevalent condition that often coexists with chronic kidney disease (CKD), significantly impacting patient prognosis. This study aimed to investigate the predictive value of complete blood cell counts derived inflammatory indicators in assessing CKD risk in HCM patients. [...] Read more.
Background: Hypertrophic cardiomyopathy (HCM) is a prevalent condition that often coexists with chronic kidney disease (CKD), significantly impacting patient prognosis. This study aimed to investigate the predictive value of complete blood cell counts derived inflammatory indicators in assessing CKD risk in HCM patients. Methods: This study enrolled HCM patients and categorized them into CKD and non-CKD group based on discharge diagnoses. Analyzed indicators included systemic inflammation response index (SIRI), systemic immune inflammation index (SII), neutrophil-to-lymphocyte ratio (NLR), and platelet-to-lymphocyte ratio (PLR). Least absolute shrinkage and selection operator (LASSO) logistic and multivariable logistic regression were employed to identified independent risk factors for CKD, which were subsequently utilized to develop a nomogram. Results: A total of 1795 HCM patients were included, including 112 (6.24%) individuals assigned to the CKD group. In univariate analyses, NLR (AUC: 0.755; 95%CI: 0.711–0.800) demonstrated superior accuracy compared to others. Eighteen baseline characteristics exhibiting statistical difference were incorporated into LASSO-logistic regression. Six factors were further selected by multivariable logistic regression. The results identified male gender (OR: 2.622; 95% CI: 1.565–4.393, p < 0.001), Hb (OR: 0.972; 95% CI: 0.962–0.981, p < 0.001), Pro-BNP (OR: 1.000; 95% CI: 1.000–1.000, p < 0.001), SIRI (OR: 1.037; 95% CI: 1.026–1.049, p < 0.001), and SII (OR: 1.000; 95% CI: 1.000–1.001, p = 0.003) as risk factors. These five factors were used to construct a nomogram, which exhibited good accuracy and consistency. Conclusions: Male gender, Hb, Pro-BNP, SIRI, and SII were identified as risk factors for CKD risk in HCM patients. A nomogram was developed using these factors, which may facilitate early identification and management of high-risk individuals. Full article
(This article belongs to the Special Issue Advanced Research in Hypertrophic Cardiomyopathy)
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13 pages, 31619 KiB  
Article
PRKAG2 Syndrome: Clinical Features, Imaging Findings and Cardiac Events
by Maria Sudomir, Przemysław Chmielewski, Grażyna Truszkowska, Mariusz Kłopotowski, Mateusz Śpiewak, Marta Legatowicz-Koprowska, Monika Gawor-Prokopczyk, Justyna Szczygieł, Joanna Zakrzewska-Koperska, Mariusz Kruk, Jolanta Krzysztoń-Russjan, Jacek Grzybowski, Rafał Płoski and Zofia T. Bilińska
Biomedicines 2025, 13(3), 751; https://doi.org/10.3390/biomedicines13030751 - 19 Mar 2025
Viewed by 635
Abstract
Background/Objectives: PRKAG2 syndrome (PS) is a rare genocopy of hypertrophic cardiomyopathy (HCM). Our goal was to expand knowledge about PS by analyzing patient clinical, imaging, and follow-up data. Methods: The study included carriers of likely pathogenic or pathogenic PRKAG2 variants identified [...] Read more.
Background/Objectives: PRKAG2 syndrome (PS) is a rare genocopy of hypertrophic cardiomyopathy (HCM). Our goal was to expand knowledge about PS by analyzing patient clinical, imaging, and follow-up data. Methods: The study included carriers of likely pathogenic or pathogenic PRKAG2 variants identified in the years 2011–2022. Cardiac involvement was assessed by electrocardiography, echocardiography, cardiac magnetic resonance imaging, and endomyocardial biopsy (EMB). We recorded concomitant diseases and cardiac events, including the implantation of electronic cardiac devices, arrhythmia, heart failure (HF), and death. Results: Seven patients from four families (median age 43 years) with PRKAG2 variants: Phe293Leu, Val336Leu, Arg302Gln, and His530Arg were included. At the first evaluation, 3 carriers were in New York Heart Association (NYHA) functional class II–III, while the remaining were in NYHA class I. Left ventricular hypertrophy (LVH) was present in 5 patients; 2 had ventricular pre-excitation, one was in atrial flutter and pacemaker-dependent; 2 had bradycardia. Two female carriers had concomitant chronic renal disease. In the EMB of one of the patients, staining for glycogen deposits was positive. Furthermore, we provide a link between the Val336Leu PRKAG2 variant and autophagy identified on EMB. After a median follow-up of 13.1 years, 6 carriers had LVH, 3 required admission for HF, and 1 had sustained ventricular tachycardia with subsequent cardioverter defibrillator implantation, and despite this, died suddenly; there were two de novo pacemaker implantations due to symptomatic bradycardia. Conclusions: PR is a distinctive disorder with an early onset of arrhythmic events, often leading to HF. Full article
(This article belongs to the Special Issue Advanced Research in Hypertrophic Cardiomyopathy)
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Review

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16 pages, 856 KiB  
Review
A Narrative Review of Current and Investigational Therapies in Hypertrophic Cardiomyopathy
by Ian Ogurek, Randeep Gill, Vasiliki Tasouli-Drakou, Ronnie Joseph, Arbab Khalid, Nazanin Houshmand and Tahir Tak
Biomedicines 2025, 13(6), 1327; https://doi.org/10.3390/biomedicines13061327 - 29 May 2025
Viewed by 454
Abstract
Hypertrophic cardiomyopathy is the most prevalent inherited cardiac condition, distinguished by an autosomal dominant inheritance pattern. Diagnosis can be achieved through echocardiography, cardiac magnetic resonance imaging, and genetic testing. Recently, significant advancements have occurred in pharmacological and invasive therapies that are transforming the [...] Read more.
Hypertrophic cardiomyopathy is the most prevalent inherited cardiac condition, distinguished by an autosomal dominant inheritance pattern. Diagnosis can be achieved through echocardiography, cardiac magnetic resonance imaging, and genetic testing. Recently, significant advancements have occurred in pharmacological and invasive therapies that are transforming the management of hypertrophic cardiomyopathy, including the introduction of cardiac myosin inhibitors, radiofrequency ablation, and gene editing. Additional trials are being conducted on investigational therapies, with the results anticipated in the near future. This review aims to provide a concise overview of both currently approved and investigational treatments for hypertrophic cardiomyopathy. Full article
(This article belongs to the Special Issue Advanced Research in Hypertrophic Cardiomyopathy)
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24 pages, 2711 KiB  
Review
Integrative Approaches in the Management of Hypertrophic Cardiomyopathy: A Comprehensive Review of Current Therapeutic Modalities
by Marco Maria Dicorato, Gaetano Citarelli, Francesco Mangini, Rossella Alemanni, Miriam Albanese, Sebastiano Cicco, Cosimo Angelo Greco, Cinzia Forleo, Paolo Basile, Maria Cristina Carella, Marco Matteo Ciccone, Andrea Igoren Guaricci and Ilaria Dentamaro
Biomedicines 2025, 13(5), 1256; https://doi.org/10.3390/biomedicines13051256 - 21 May 2025
Viewed by 694
Abstract
Hypertrophic cardiomyopathy (HCM) is often associated with left ventricular outflow tract (LVOT) obstruction, which affects a substantial proportion of patients. This obstruction results from a range of anatomical abnormalities involving both the valvular and subvalvular structures. Pharmacological therapies play a pivotal role in [...] Read more.
Hypertrophic cardiomyopathy (HCM) is often associated with left ventricular outflow tract (LVOT) obstruction, which affects a substantial proportion of patients. This obstruction results from a range of anatomical abnormalities involving both the valvular and subvalvular structures. Pharmacological therapies play a pivotal role in the management of LVOT obstruction, with a range of drug classes exhibiting distinct mechanisms of action. Beta-blockers, including atenolol and nadolol, are considered the first-line treatment due to their ability to reduce heart rate and myocardial contractility and enhance diastolic filling. Non-dihydropyridine calcium channel blockers, such as verapamil and diltiazem, are utilized as second-line agents when beta-blockers are ineffective or contraindicated. Disopyramid, a Class 1A antiarrhythmic agent, is employed for patients who do not respond to initial therapeutic interventions and can reduce LVOT gradients. Recent advancements in cardiac myosin modulators, such as Mavacamten and Aficamten, offer targeted therapies by modulating myosin–actin interactions to reduce LVOT gradients and improve symptoms, with promising results from clinical trials. Although gene therapy is still in its nascent stages, it has the potential to address the genetic basis of HCM by employing techniques such as genome editing, gene replacement, and the modulation of signaling pathways. For patients exhibiting severe symptoms or demonstrating unresponsiveness to medical treatment, invasive therapies, such as septal reduction therapy and alcohol septal ablation, are considered. Ultimately, the treatment and prevention of atrial fibrillation and sudden cardiac death are two key points of HCM management in both obstructive and non-obstructive forms. This review aims to provide an overview of current pharmacological and invasive strategies, as well as emerging therapies, in the management of HCM. Full article
(This article belongs to the Special Issue Advanced Research in Hypertrophic Cardiomyopathy)
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