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- Francesco Pelliccia
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- Francesco Pelliccia
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, Ruchika Bhargav 1, Aliaa Mousa 1, Sabahat Bokhari 1,*
1 Department of Cardiology, Rutgers Robert Wood Johnson University Hospital, New Brunswick, NJ 08901, USA
Abstract
Hypertrophic cardiomyopathy (HCM) is a multifaceted genetic disorder characterized by left ventricular hypertrophy (LVH) in the absence of alternative causes, with an estimated prevalence ranging from 1 in 200 to 1 in 500 individuals. Since HCM was first characterized in 1869, a plethora of pathogenic mutations have been identified, while ongoing research continues to elucidate the various pathophysiological mechanisms present in individuals with HCM. Comprehensive physical examination findings and multimodality imaging techniques have become crucial for accurately diagnosing and risk stratifying HCM patients. Meanwhile, recent advancements in research have contributed to a more refined definition and heightened recognition of HCM, prompting further investigations into targeted therapeutic strategies. This evolution in understanding provides alternative treatment options for patients, moving beyond traditional approaches such as myectomy or septal ablation. This review aims to systematically explore the genetic and pathophysiological underpinnings of HCM, as well as the application of multimodality imaging in identifying patients at risk for sudden cardiac death (SCD). The discussion also examines contemporary management strategies for HCM, specifically highlighting novel therapies targeting the molecular mechanisms involved in this disease.
Keywords
- hypertrophic cardiomyopathy
- sudden cardiac death
- alcohol septal ablation
- surgical myectomy
- mavacamten
- aficamten
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