Hypertrophic Cardiomyopathy: Current Treatment and Future Options

Sebastian, Sneha Annie; Panthangi, Venkatesh; Singh, K.K.; Rayaroth, Swetha; Gupta, Aditi; Shantharam, Darshan; Rasool, Banan Qasim; Padda, Inderbir; Co, Edzel Lorraine; Johal, Gurpreet

doi:10.1016/j.cpcardiol.2022.101552

Cited by 11 publications

(10 citation statements)

References 129 publications

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“…Echocardiography is pivotal as the primary diagnostic and monitoring tool in HCM [29]. M-mode, 2D, and Doppler transthoracic echocardiography (TTE) are commonly employed techniques, while strain imaging and 3D can help to detect subtle changes in early phenotypes.…”

Section: Clinical Diagnosis and Imaging Toolsmentioning

confidence: 99%

“…The management of HCM requires a collaborative approach, where the patient and the healthcare team work together harmoniously [29]. This partnership entails the active involvement of the patient and relatives in decision-making processes, ensuring their understanding of the benefits, risks, action plans, and ultimate goals concerning their condition.…”

Section: Sudden Cardiac Death Risk Assessment and Preventionmentioning

confidence: 99%

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

Ottaviani,

Mansour,

Molinari

et al. 2023

JCM

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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.

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Section: Clinical Diagnosis and Imaging Toolsmentioning

confidence: 99%

Section: Sudden Cardiac Death Risk Assessment and Preventionmentioning

confidence: 99%

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

Ottaviani,

Mansour,

Molinari

et al. 2023

JCM

View full text Add to dashboard Cite

show abstract

“…Many patients with HCM experience adverse clinical outcomes including heart failure (HF), arrhythmias, and sudden cardiac death. The mortality of patients with HCM was shown to be about 3-fold higher than that of the general population at similar ages[5]. It is the most common cause of sudden cardiac death among young athletes without precedent symptoms.…”

Section: Introductionmentioning

confidence: 99%

A Novel Truncating Variant in MYBPC3 Causes Hypertrophic Cardiomyopathy

Zhang,

Gong,

Cong

et al. 2024

Preprint

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BackgroundFamilial hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease. Related mutations contributing to hypercontractility and poor relaxation in HCM have been incompletely understood. The purpose of this study was to explore and verify a novel variant in cardiac myosin-binding protein C3 (MYBPC3) in a HCM family.MethodsClinical information was collected and cardiac evaluation was performed in the pedigree. Second-generation sequencing technology was used to investigate the proband and his family. Computational prediction of mutation effects at genomic level and 3D visualization of the mutated protein were achieved by in silico analysis.ResultsTypical interventricular septal thickening was detected in all the four HCM patients. A c.1042_1043insCGGCA mutation of MYBPC3 was verified in the proband and family members. Mild phenotype associated with delayed onset and relative favorable prognosis were observed in the pedigree. In silico analysis of the mutation revealed that c.1042_1043insCGGCA led to an early termination of MYBPC protein synthesis at C2 domain, losing the domains that are essential for myosin-and titin-binding.ConclusionThe novel c.1042_1043insCGGCA mutation of MYBPC3 was a genetic basis for HCM.Our gene sequence based computational analysis predicted the pathogenicity of the mutation by correlating MYBPC3 genotypes with clinical phenotypes.

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“…The introduction of the cardiovascular-kidney-metabolic (CKM) syndrome concept provides a new framework for understanding the complex interplay between cardiometabolic syndrome and CKD [9][10][11].…”

Section: Introductionmentioning

confidence: 99%

Cardiometabolic Risk Phenotypes and Chronic Kidney Disease Incidence in Older Adults：A Nationwide Longitudinal Cohort Study

Zeng,

Xiao

2024

Preprint

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Background There is mixed evidence for an association between cardiometabolic risk factors and chronic kidney disease risk (CKD). This study aimed to determine whether different latent classes of cardiometabolic conditions were associated with chronic kidney disease risk. Method Data from 7,195 participants in the China Health and Retirement Longitudinal Study (CHARLS) were analyzed. Latent class analysis was performed using data on obesity, high-density lipoprotein cholesterol, triglyceride, hypertension, diabetes, arthritis or rheumatism, and systemic inflammatory conditions and heart disease. Confounder-adjusted multiple logistic regressions were conducted to estimate CKD incidence by cardiometabolic latent classes. Results Three cardiometabolic classes were identified: relatively healthy cardiometabolic (RHC) phenotype, metabolic syndrome (MetS) phenotype, and cardiovascular disease (CVD) phenotype, which accounted for 66.2%, 19.9%, and 13.8%, respectively. The incidence of CKD was 12.7% in the CVD group, 9.4% in the MetS group, and 5.9% in the RHC group. After adjusting for confounding factors, it was found that the metabolic syndrome type had a 54% increased risk of newly diagnosed CKD compared to the healthy heart type (OR = 1.54, 95% CI: 1.22–1.93), while the cardiovascular type increased by 104% (OR = 2.04, 95% CI: 1.61–2.57). Conclusion Different cardiometabolic phenotypes are associated with an increased risk of new-onset CKD. Gender and age are important factors influencing the strength of this association.

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Hypertrophic Cardiomyopathy: Current Treatment and Future Options

Cited by 11 publications

References 129 publications

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

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

A Novel Truncating Variant in MYBPC3 Causes Hypertrophic Cardiomyopathy

Cardiometabolic Risk Phenotypes and Chronic Kidney Disease Incidence in Older Adults：A Nationwide Longitudinal Cohort Study

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