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Hypertrophic Cardiomyopathy—Current Challenges and Future Perspectives

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A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Cardiology".

Deadline for manuscript submissions: closed (16 February 2023) | Viewed by 24523

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Special Issue Editors

Dr. Emanuele Monda

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Guest Editor

1. Inherited and Rare Cardiovascular Diseases Unit, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy
2. Institute of Cardiovascular Science, University College London, London, UK
Interests: myocardial diseases; cardiomyopathies; genetic cardiovascular disease; rare cardiovascular diseases; congenital heart diseases
Special Issues, Collections and Topics in MDPI journals

Prof. Dr. Francesco Pelliccia

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Guest Editor

Department of Cardiovascular Sciences, Sapienza University, Rome, Italy
Interests: interventional cardiology; takotsubo syndrome; MINOCA; hypertrophic cardiomyopathy

Special Issue Information

Dear Colleagues,

Hypertrophic cardiomyopathy (HCM) is a myocardial disease characterized by left ventricular hypertrophy not solely explained by abnormal loading conditions. HCM is a condition that ranges from benign to severe disease with complication (e.g., sudden cardiac death, heart failure, or atrial fibrillation).

The aetiology of HCM is heterogeneous, with mutations in sarcomeric genes responsible for up to 40–60% of cases. However, several other conditions (e.g., metabolic, infiltrative, and neuromuscular) can be associated with an HCM phenotype, often requiring a tailored diagnostic approach and treatment.

Current research is focused on identifying diagnostic markers and molecular targets to early identify the specific cause of HCM and start a tailored treatment, when available.

This Special Issue aims to identify the gaps in the diagnosis and management of HCM based on a combination of original research and review papers.

Potential topics include:

The epidemiology of HCM;
The pathophysiology of HCM, both sarcomeric and rare aetiologies;
The role of genetics in the diagnosis of HCM;
Diagnostic approaches, including multimodality imaging and novel techniques;
Medical and surgical treatments;
Specific aetiologies of HCM (e.g., Fabry disease, cardiac amyloidosis, and glycogenosis);
Paediatric HCM.

Dr. Emanuele Monda
Prof. Dr. Francesco Pelliccia
Guest Editors

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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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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
left ventricular hypertrophy
genetics
multimodality imaging
diagnosis
treatment
personalized medicine
cardiac amyloidosis
Fabry disease
glycogen storage disorders
RASopathies
lysosomal storage disorders
mitochondrial disorders

Published Papers (11 papers)

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Editorial

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5 pages, 212 KiB

Open AccessEditorial

Hypertrophic Cardiomyopathy—Current Challenges and Future Perspectives

by Emanuele Monda, Giuseppe Limongelli and Francesco Pelliccia

J. Clin. Med. 2023, 12(18), 6093; https://doi.org/10.3390/jcm12186093 - 21 Sep 2023

Viewed by 793

Abstract

Hypertrophic cardiomyopathy (HCM) is a myocardial disorder characterized by left ventricular (LV) hypertrophy, which cannot be entirely attributed to loading conditions such as valve or congenital heart disease or hypertension [...] Full article

(This article belongs to the Special Issue Hypertrophic Cardiomyopathy—Current Challenges and Future Perspectives)

Research

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10 pages, 477 KiB

Open AccessArticle

by Emyal Alyaydin, Julia Kirsten Vogel, Peter Luedike, Tienush Rassaf, Rolf Alexander Jánosi and Maria Papathanasiou

J. Clin. Med. 2023, 12(8), 3024; https://doi.org/10.3390/jcm12083024 - 21 Apr 2023

Cited by 3 | Viewed by 1322

Abstract

(1) Background: The transcoronary ablation of septal hypertrophy (TASH) is an established therapy for hypertrophic obstructive cardiomyopathy (HOCM). Previous studies on this topic are characterised by a consistent male predominance and show a worse prognosis in females. (2) Methods: This study is a retrospective analysis of all TASH procedures conducted between 2006 and 2021 at a tertiary academic centre. A solution of 75 µm microspheres (Embozene^®, Boston Scientific, Marlborough, MA, USA) was used as an embolising agent. The outcomes of interest were left ventricular outflow tract (LVOT) gradient reduction and symptom improvement among males vs. that among females. Secondarily, we analysed the sex-related differences in procedural safety outcomes and mortality. (3) Results: The study population consisted of 76 patients, with a median age of 61 years. Females comprised 57% of the cohort. We observed no sex-related differences in the baseline LVOT gradients at rest or under provocation (p = 0.560 and p = 0.208, respectively). Females were significantly older at the time of the procedure (p < 0.001), had lower tricuspid annular systolic excursion (TAPSE) (p = 0.009), presented a worse clinical status according to the NYHA functional classification (for NYHA ≥ 3, p < 0.001), and were more often on diuretics (p < 0.001). We did not observe sex-related differences in absolute gradient reduction at rest (p = 0.147) and under provocation (p = 0.709). There was a reduction in the NYHA class by a median value of 1 (p = 0.636) at follow-up for both sexes. Postprocedural access site complications were documented in four cases (two of which concerned females), and complete atrioventricular block was noted in five patients (three of which concerned females). The 10-year survival rates were comparable between the sexes (85% in females and 88% in males). The female sex was not associated with enhanced mortality according to multivariate analysis after adjusting for the confounding variables (HR 0.94; 95% CI 0.376–2.350; p = 0.895), but we observed age-related differences in long-term mortality (HR 1.035; 95% CI 1.007–1.063; p = 0.015). (4) Conclusions: TASH is safe and effective in both sexes, irrespective of their clinical differences. Women present at an advanced age and with more severe symptoms. An advanced age at the time of the intervention is an independent predictor of mortality. Full article

(This article belongs to the Special Issue Hypertrophic Cardiomyopathy—Current Challenges and Future Perspectives)

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10 pages, 1635 KiB

Open AccessArticle

Real-World Use and Predictors of Response to Disopyramide in Patients with Obstructive Hypertrophic Cardiomyopathy

by Niccolò Maurizi, Chiara Chiriatti, Carlo Fumagalli, Mattia Targetti, Silvia Passantino, Panagiotis Antiochos, Ioannis Skalidis, Chiara Chiti, Giulia Biagioni, Alessia Tomberli, Sara Giovani, Raffaele Coppini, Franco Cecchi and Iacopo Olivotto

J. Clin. Med. 2023, 12(7), 2725; https://doi.org/10.3390/jcm12072725 - 06 Apr 2023

Cited by 5 | Viewed by 2158

Abstract

Background: Although disopyramide has been widely used to reduce left ventricular outflow obstruction (LVOTO) and to improve symptoms in patients with obstructive hypertrophic cardiomyopathy (oHCM), its use in real world as well as patient characteristics associated with a positive treatment response are still unclear. Methods: From 1980 to 2021, 1527 patients with HCM were evaluated and 372 (23%) had a LVOTO with active follow-up. The efficacy and safety of disopyramide were assessed systematically during 12 months (2-, 6-, and 12-month visits). Responders were patients with a final NYHA = I and a LVOTO < 30 mmHg; incomplete responders were those patients with NYHA > I and a LVOTO < 30 mmHg; and non-responders were symptomatic patients with no change in functional class NYHA and a LVOT gradient > 30 mmHg. Results: Two-hundred-fifty-four (66%) patients were in functional class NYHA I/II and 118 (34%) in NYHA III/IV. A total of 118/372 (32%, 55 ± 16 years) underwent disopyramide therapy. Twenty-eight (24%) patients responded to therapy, 39 (33%) were incomplete responders, and 51 (43%) did not respond. Responder were mainly patients in functional NYHA class I/II (24/28, 86%), whereas incomplete responders and non-responders were more often in functional NYHA class III/IV (50/54 (93%)). An independent predictor of response to disopyramide treatment was the presence of NYHA I/II at the initiation of therapy (HR 1.5 (95% CI 1.1–4.5), p = 0.03). No major life-threatening arrhythmic events or syncope occurred, despite 19 (16%) patients showing reduced QTc from baseline, 19 (16%) having no difference, while 80 (69%) patients had prolonged QTc interval. Thirty-one (26%) patients experienced side effects, in particular, 29 of the anticholinergic type. Conclusions: Disopyramide was underused in oHCM but effective in reducing LVOTO gradients and symptoms in slightly symptomatic patients with less severe disease phenotype with a safe pro-arrhythmic profile. Full article

(This article belongs to the Special Issue Hypertrophic Cardiomyopathy—Current Challenges and Future Perspectives)

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10 pages, 1159 KiB

Open AccessArticle

Association of Types of Sleep Apnea and Nocturnal Hypoxemia with Atrial Fibrillation in Patients with Hypertrophic Cardiomyopathy

by Haobo Xu, Juan Wang, Shubin Qiao, Jiansong Yuan, Fenghuan Hu, Weixian Yang, Chao Guo, Xiaoliang Luo, Xin Duan, Shengwen Liu, Rong Liu and Jingang Cui

J. Clin. Med. 2023, 12(4), 1347; https://doi.org/10.3390/jcm12041347 - 08 Feb 2023

Cited by 1 | Viewed by 1560

Abstract

Background: Data regarding the association between sleep apnea (SA) and atrial fibrillation (AF) in hypertrophic cardiomyopathy (HCM) are still limited. We aim to investigate the association of both types of SA, obstructive sleep apnea (OSA) and central sleep apnea (CSA), and nocturnal hypoxemia with AF in HCM. Methods: A total of 606 patients with HCM who underwent sleep evaluations were included. Logistic regression was used to assess the association between sleep disorder and AF. Results: SA was presented in 363 (59.9%) patients, of whom 337 (55.6%) had OSA and 26 (4.3%) had CSA. Patients with SA were older, more often male, had a higher body mass index, and more clinical comorbidities. Prevalence of AF was higher in patients with CSA than patients with OSA and without SA (50.0% versus 24.9% and 12.8%, p < 0.001). After adjustment for age, sex, body mass index, hypertension, diabetes mellitus, cigarette use, New York Heart Association class and severity of mitral regurgitation, SA (OR, 1.79; 95% CI, 1.09–2.94) and nocturnal hypoxemia (higher tertile of percentage of total sleep time with oxygen saturation < 90% [OR, 1.81; 95% CI, 1.05–3.12] compared with lower tertile) were significantly associated with AF. The association was much stronger in the CSA group (OR, 3.98; 95% CI, 1.56–10.13) than in OSA group (OR, 1.66; 95% CI, 1.01–2.76). Similar associations were observed when analyses were restricted to persistent/permanent AF. Conclusion: Both types of SA and nocturnal hypoxemia were independently associated with AF. Attention should be paid to the screening of both types of SA in the management of AF in HCM. Full article

(This article belongs to the Special Issue Hypertrophic Cardiomyopathy—Current Challenges and Future Perspectives)

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Review

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32 pages, 3422 KiB

Open AccessReview

Revisiting Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Current Practice and Novel Perspectives

by Andrea Ottaviani, Davide Mansour, Lorenzo V. Molinari, Kristian Galanti, Cesare Mantini, Mohammed Y. Khanji, Anwar A. Chahal, Marco Zimarino, Giulia Renda, Luigi Sciarra, Francesco Pelliccia, Sabina Gallina and Fabrizio Ricci

J. Clin. Med. 2023, 12(17), 5710; https://doi.org/10.3390/jcm12175710 - 01 Sep 2023

Cited by 4 | Viewed by 3560

Abstract

Sarcomeric hypertrophic cardiomyopathy (HCM) is a prevalent genetic disorder characterised by left ventricular hypertrophy, myocardial disarray, and an increased risk of heart failure and sudden cardiac death. Despite advances in understanding its pathophysiology, treatment options for HCM remain limited. This narrative review aims to provide a comprehensive overview of current clinical practice and explore emerging therapeutic strategies for sarcomeric HCM, with a focus on cardiac myosin inhibitors. We first discuss the conventional management of HCM, including lifestyle modifications, pharmacological therapies, and invasive interventions, emphasizing their limitations and challenges. Next, we highlight recent advances in molecular genetics and their potential applications in refining HCM diagnosis, risk stratification, and treatment. We delve into emerging therapies, such as gene editing, RNA-based therapies, targeted small molecules, and cardiac myosin modulators like mavacamten and aficamten, which hold promise in modulating the underlying molecular mechanisms of HCM. Mavacamten and aficamten, selective modulators of cardiac myosin, have demonstrated encouraging results in clinical trials by reducing left ventricular outflow tract obstruction and improving symptoms in patients with obstructive HCM. We discuss their mechanisms of action, clinical trial outcomes, and potential implications for the future of HCM management. Furthermore, we examine the role of precision medicine in HCM management, exploring how individualised treatment strategies, including exercise prescription as part of the management plan, may optimise patient outcomes. Finally, we underscore the importance of multidisciplinary care and patient-centred approaches to address the complex needs of HCM patients. This review also aims to encourage further research and collaboration in the field of HCM, promoting the development of novel and more effective therapeutic strategies, such as cardiac myosin modulators, to hopefully improve the quality of life and outcome of patients with sarcomeric HCM. Full article

(This article belongs to the Special Issue Hypertrophic Cardiomyopathy—Current Challenges and Future Perspectives)

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14 pages, 1593 KiB

Open AccessReview

Arrhythmic Risk Stratification among Patients with Hypertrophic Cardiomyopathy

by Francesco Santoro, Federica Mango, Adriana Mallardi, Damiano D’Alessandro, Grazia Casavecchia, Matteo Gravina, Michele Correale and Natale Daniele Brunetti

J. Clin. Med. 2023, 12(10), 3397; https://doi.org/10.3390/jcm12103397 - 10 May 2023

Cited by 6 | Viewed by 1859

Abstract

Hypertrophic cardiomyopathy (HCM) is a cardiac muscle disorder characterized by generally asymmetric abnormal hypertrophy of the left ventricle without abnormal loading conditions (such as hypertension or valvular heart disease) accounting for the left ventricular wall thickness or mass. The incidence of sudden cardiac death (SCD) in HCM patients is about 1% yearly in adults, but it is far higher in adolescence. HCM is the most frequent cause of death in athletes in the Unites States of America. HCM is an autosomal-dominant genetic cardiomyopathy, and mutations in the genes encoding sarcomeric proteins are identified in 30–60% of cases. The presence of this genetic mutation carries more than 2-fold increased risk for all outcomes, including ventricular arrhythmias. Genetic and myocardial substrate, including fibrosis and intraventricular dispersion of conduction, ventricular hypertrophy and microvascular ischemia, increased myofilament calcium sensitivity and abnormal calcium handling, all play a role as arrhythmogenic determinants. Cardiac imaging studies provide important information for risk stratification. Transthoracic echocardiography can be helpful to evaluate left ventricular (LV) wall thickness, LV outflow-tract gradient and left atrial size. Additionally, cardiac magnetic resonance can evaluate the prevalence of late gadolinium enhancement, which when higher than 15% of LV mass is a prognostic maker of SCD. Age, family history of SCD, syncope and non-sustained ventricular tachycardia at Holter ECG have also been validated as independent prognostic markers of SCD. Arrhythmic risk stratification in HCM requires careful evaluation of several clinical aspects. Symptoms combined with electrocardiogram, cardiac imaging tools and genetic counselling are the modern cornerstone for proper risk stratification. Full article

(This article belongs to the Special Issue Hypertrophic Cardiomyopathy—Current Challenges and Future Perspectives)

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13 pages, 1571 KiB

Open AccessReview

Alcohol Septal Ablation in Patients with Hypertrophic Obstructive Cardiomyopathy: A Contemporary Perspective

by Felice Gragnano, Francesco Pelliccia, Natale Guarnaccia, Giampaolo Niccoli, Salvatore De Rosa, Raffaele Piccolo, Elisabetta Moscarella, Enrico Fabris, Rocco Antonio Montone, Arturo Cesaro, Italo Porto, Ciro Indolfi, Gianfranco Sinagra, Pasquale Perrone Filardi, Giuseppe Andò and Paolo Calabrò

J. Clin. Med. 2023, 12(8), 2810; https://doi.org/10.3390/jcm12082810 - 11 Apr 2023

Cited by 6 | Viewed by 2027

Abstract

Alcohol septal ablation is a minimally invasive procedure for the treatment of left ventricular outflow tract (LVOT) obstruction in patients with hypertrophic obstructive cardiomyopathy (HOCM) who remain symptomatic despite optimal medical therapy. The procedure causes a controlled myocardial infarction of the basal portion of the interventricular septum by the injection of absolute alcohol with the aim of reducing LVOT obstruction and improving the patient’s hemodynamics and symptoms. Numerous observations have demonstrated the efficacy and safety of the procedure, making it a valid alternative to surgical myectomy. In particular, the success of alcohol septal ablation depends on appropriate patient selection and the experience of the institution where the procedure is performed. In this review, we summarize the current evidence on alcohol septal ablation and highlight the importance of a multidisciplinary approach involving a team of clinical and interventional cardiologists and cardiac surgeons with high expertise in the management of HOCM patients—the Cardiomyopathy Team. Full article

(This article belongs to the Special Issue Hypertrophic Cardiomyopathy—Current Challenges and Future Perspectives)

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8 pages, 647 KiB

Open AccessReview

Clinical and Genetic Screening for Hypertrophic Cardiomyopathy in Paediatric Relatives: Changing Paradigms in Clinical Practice

by Claire M. Lawley and Juan Pablo Kaski

J. Clin. Med. 2023, 12(8), 2788; https://doi.org/10.3390/jcm12082788 - 09 Apr 2023

Cited by 2 | Viewed by 1709

Abstract

Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality in children. While the aetiology is heterogeneous, most cases are caused by variants in the genes encoding components of the cardiac sarcomere, which are inherited as an autosomal dominant trait. In recent years, there has been a paradigm shift in the role of clinical screening and predictive genetic testing in children with a first-degree relative with HCM, with the recognition that phenotypic expression can, and often does, manifest in young children and that familial disease in the paediatric age group may not be benign. The care of the child and family affected by HCM relies on a multidisciplinary team, with a key role for genomics. This review article summarises current evidence in clinical and genetic screening for hypertrophic cardiomyopathy in paediatric relatives and highlights aspects that remain to be resolved. Full article

(This article belongs to the Special Issue Hypertrophic Cardiomyopathy—Current Challenges and Future Perspectives)

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10 pages, 572 KiB

Open AccessReview

Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease

by Marilena Melas, Eleftherios T. Beltsios, Antonis Adamou, Konstantinos Koumarelas and Kim L. McBride

J. Clin. Med. 2023, 12(1), 225; https://doi.org/10.3390/jcm12010225 - 28 Dec 2022

Cited by 7 | Viewed by 2670

Abstract

Hypertrophic cardiomyopathy (HCM) is an inherited myocardial disease with the presence of left ventricular hypertrophy (LVH). The disease is characterized by high locus, allelic and phenotypic heterogeneity, even among members of the same family. The list of confirmed and potentially relevant genes implicating the disease is constantly increasing, with novel genes frequently reported. Heterozygous alterations in the five main sarcomeric genes (MYBPC3, MYH7, TNNT2, TNNI3, and MYL2) are estimated to account for more than half of confirmed cases. The genetic discoveries of recent years have shed more light on the molecular pathogenic mechanisms of HCM, contributing to substantial advances in the diagnosis of the disease. Genetic testing applying next-generation sequencing (NGS) technologies and early diagnosis prior to the clinical manifestation of the disease among family members demonstrate an important improvement in the field. Full article

(This article belongs to the Special Issue Hypertrophic Cardiomyopathy—Current Challenges and Future Perspectives)

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24 pages, 3791 KiB

Open AccessReview

Review of Contemporary Invasive Treatment Approaches and Critical Appraisal of Guidelines on Hypertrophic Obstructive Cardiomyopathy: State-of-the-Art Review

by Steven Lebowitz, Mariusz Kowalewski, Giuseppe Maria Raffa, Danny Chu, Matteo Greco, Caterina Gandolfo, Carmelo Mignosa, Roberto Lorusso, Piotr Suwalski and Michele Pilato

J. Clin. Med. 2022, 11(12), 3405; https://doi.org/10.3390/jcm11123405 - 14 Jun 2022

Cited by 5 | Viewed by 3547

Abstract

Background: Hypertrophic obstructive cardiomyopathy (HOCM) is a heterogeneous disease with different clinical presentations, albeit producing similar dismal long-term outcomes if left untreated. Several approaches are available for the treatment of HOCM; e.g., alcohol septal ablation (ASA) and surgical myectomy (SM). The objectives of the current review were to (1) discuss the place of the standard invasive treatment modalities (ASA and SM) for HOCM; (2) summarize and compare novel techniques for the management of HOCM; (3) analyze current guidelines addressing HOCM management; and (4) offer suggestions for the treatment of complex HOCM presentations. Methods: We searched the literature and attempted to gather the most relevant and impactful available evidence on ASA, SM, and other invasive means of treatment of HOCM. The literature search yielded thousands of results, and 103 significant publications were ultimately included. Results: We critically analyzed available guidelines and provided context in the setting of patient selection for standard and novel treatment modalities. This review offers the most comprehensive analysis to-date of available invasive treatments for HOCM. These include the standard treatments, SM and ASA, as well as novel treatments such as dual-chamber pacing and radiofrequency catheter ablation. We also account for complex pathoanatomic presentations and current guidelines to offer suggestions for tailored care of patients with HOCM. Finally, we consider promising future therapies for HOCM. Conclusions: HOCM is a heterogeneous disease associated with poor outcomes if left untreated. Several strategies for treatment of HOCM are available but patient selection for the procedure is crucial. Full article

(This article belongs to the Special Issue Hypertrophic Cardiomyopathy—Current Challenges and Future Perspectives)

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Other

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9 pages, 969 KiB

Open AccessOpinion

Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions

by Francesca Girolami, Alessia Gozzini, Eszter Dalma Pálinkás, Adelaide Ballerini, Alessia Tomberli, Katia Baldini, Alberto Marchi, Mattia Zampieri, Silvia Passantino, Giulio Porcedda, Giovanni Battista Calabri, Elena Bennati, Gaia Spaziani, Lia Crotti, Franco Cecchi, Silvia Favilli and Iacopo Olivotto

J. Clin. Med. 2023, 12(7), 2489; https://doi.org/10.3390/jcm12072489 - 24 Mar 2023

Cited by 4 | Viewed by 1914

Abstract

Genetic counselling and genetic testing in hypertrophic cardiomyopathy (HCM) represent an integral part of the diagnostic algorithm to confirm the diagnosis, distinguish it from phenocopies, and suggest tailored therapeutic intervention strategies. Additionally, they enable cascade genetic testing in the family. With the implementation of Next Generation Sequencing technologies (NGS), the interpretation of genetic data has become more complex. In this regard, cardiologists play a central role, aiding geneticists to correctly evaluate the pathogenicity of the identified genetic alterations. In the ideal setting, geneticists and cardiologists must work side by side to diagnose HCM as well as convey the correct information to patients in response to their many questions and concerns. After a brief overview of the role of genetics in the diagnosis of HCM, we present and discuss the frequently asked questions by HCM patients throughout our 20-year genetic counselling experience. Appropriate communication between the team and the families is key to the goal of delivering the full potential of genetic testing to our patients. Full article

(This article belongs to the Special Issue Hypertrophic Cardiomyopathy—Current Challenges and Future Perspectives)

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