Diagnosis and Treatment of Obstructive Hypertrophic Cardiomyopathy

Todde, Gaetano; Canciello, Grazia; Borrelli, Felice; Perillo, Errico Federico; Esposito, Giovanni; Lombardi, Raffaella; Losi, Maria Angela

doi:10.3390/cardiogenetics13020008

Cited by 2 publications

(2 citation statements)

References 50 publications

(64 reference statements)

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“…Obstruction can typically occur at two levels: at the left ventricular outflow tract or at the midventricular level [11]. The former is thought to result from dynamic systolic anterior motion of the anterior mitral valve leaflet whereas the latter is believed to be caused by obstruction at the papillary muscle level and has been shown to have a strong association with apical aneurysm formation [12,13]. Left ventricular outflow tract obstruction (LVOTO) can be diagnosed on an echocardiogram and is considered to be significant when the peak gradient is >30 mmHg.…”

Section: What Is Hypertrophic Cardiomyopathy? 21 Classification Of Hy...mentioning

confidence: 99%

Hypertrophic Cardiomyopathy and Chronic Kidney Disease: An Updated Review

Dhuny,

Wu,

David

et al. 2024

Cardiogenetics

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The links between chronic kidney disease (CKD) and cardiac conditions such as coronary heart disease or valvular disease are well established in the literature. However, the relationship between hypertrophic cardiomyopathy (HCM) and CKD is not as frequently described or researched. HCM is the most common form of inherited cardiac disease. It is mainly transmitted in an autosomal dominant fashion and caused by mutations in genes encoding sarcomere proteins. HCM is estimated to affect 0.2% of the general population and has an annual mortality rate of between approximately 0.5 and 1%. Our review article aims to summarize the genetics of HCM; discuss the potential clinical mimics that occur concurrently with HCM and CKD, potential interlinks that associate between these two conditions, the role of renal dysfunction as a poor prognostic indicator in HCM; and based on currently available evidence, recommend a management approach that may be suitable when clinicians are faced with this clinical scenario.

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Section: What Is Hypertrophic Cardiomyopathy? 21 Classification Of Hy...mentioning

confidence: 99%

Hypertrophic Cardiomyopathy and Chronic Kidney Disease: An Updated Review

Dhuny,

Wu,

David

et al. 2024

Cardiogenetics

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“…HCM is a common inheritable cardiac disorder usually following an autosomal dominant inheritance pattern. LVH in the absence of cardiovascular diseases occurs in approximately 1:500 subjects in the general population; when both clinical and genetic diagnoses are considered [2], this prevalence increases to 1 case per 200 [3][4][5]. HCM stems from multiple mutations that affect at least 14 genes [6] responsible for sarcomeric proteins.…”

Section: Introductionmentioning

confidence: 99%

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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Diagnosis and Treatment of Obstructive Hypertrophic Cardiomyopathy

Cited by 2 publications

References 50 publications

Hypertrophic Cardiomyopathy and Chronic Kidney Disease: An Updated Review

Hypertrophic Cardiomyopathy and Chronic Kidney Disease: An Updated Review

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

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