Advanced imaging for risk stratification of sudden death in hypertrophic cardiomyopathy

Ramchand, Jay; Fava, Agostina M.; Chetrit, Michael; Desai, Milind Y.

doi:10.1136/heartjnl-2020-316770

Cited by 3 publications

(4 citation statements)

References 5 publications

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“…HCM is characterized by thickening of the heart muscle, with or without left ventricular outflow obstruction, in association with diastolic dysfunction [Figure 1] [5] . Sudden cardiac death is strongly linked to HCM, particularly in young adults and trained athletes [6] .…”

Section: Hcm Phenotypementioning

confidence: 99%

“…Hypertrophied myocardial fibers with disordered muscle bundles and interstitial fibrosis are additional typical diagnostic features. Additionally, luminal narrowing owing to high wall thickness in coronary microvasculature, myocardial ischemia injury, and fibrosis are observed [5,27,29] . Diverse phenotypic expression and naturally variable progression of HCM are reflections of a range of clinical manifestations from dyspnea and/or syncope to sudden cardiac death.…”

Section: Hcm Phenotypementioning

confidence: 99%

“…Hypertrophic Cardiomyopathy (HCM) impacts as many as 1 in every 200 people [1] , affecting approximately 36 million people worldwide [2,3] . HCM is characterized by thickening of the heart muscle, with or without left ventricular outflow obstruction, and is associated with diastolic dysfunction [4,5] . Sudden cardiac death (SCD) is strongly linked to HCM, particularly in young adults and highly trained elite athletes [6] .…”

Section: Introductionmentioning

confidence: 99%

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Hypertrophic cardiomyopathy in MYBPC3 carriers in aging

Ananthamohan,

Stelzer,

Sadayappan

2024

J Cardiovasc Aging

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Hypertrophic cardiomyopathy (HCM) is characterized by abnormal thickening of the myocardium, leading to arrhythmias, heart failure, and elevated risk of sudden cardiac death, particularly among the young. This inherited disease is predominantly caused by mutations in sarcomeric genes, among which those in the cardiac myosin binding protein-C3 (MYBPC3 ) gene are major contributors. HCM associated with MYBPC3 mutations usually presents in the elderly and ranges from asymptomatic to symptomatic forms, affecting numerous cardiac functions and presenting significant health risks with a spectrum of clinical manifestations. Regulation of MYBPC3 expression involves various transcriptional and translational mechanisms, yet the destiny of mutant MYBPC3 mRNA and protein in late-onset HCM remains unclear. Pathogenesis related to MYBPC3 mutations includes nonsense-mediated decay, alternative splicing, and ubiquitin-proteasome system events, leading to allelic imbalance and haploinsufficiency. Aging further exacerbates the severity of HCM in carriers of MYBPC3 mutations. Advancements in high-throughput omics techniques have identified crucial molecular events and regulatory disruptions in cardiomyocytes expressing MYBPC3 variants. This review assesses the pathogenic mechanisms that promote late-onset HCM through the lens of transcriptional, post-transcriptional, and post-translational modulation of MYBPC3 , underscoring its significance in HCM across carriers. The review also evaluates the influence of aging on these processes and MYBPC3 levels during HCM pathogenesis in the elderly. While pinpointing targets for novel medical interventions to conserve cardiac function remains challenging, the emergence of personalized omics offers promising avenues for future HCM treatments, particularly for late-onset cases.

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Section: Hcm Phenotypementioning

confidence: 99%

Section: Hcm Phenotypementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Hypertrophic cardiomyopathy in MYBPC3 carriers in aging

Ananthamohan,

Stelzer,

Sadayappan

2024

J Cardiovasc Aging

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“…When there is diagnostic uncertainty, cardiac MRI can be helpful, with patterns of myocardial edema and late gadolinium enhancement being distinctly different between these entities (Fig. 4a-h, Supplementary videos 4a,b, http://links.lww.com/ HCO/A88, http://links.lww.com/HCO/A89) [38].…”

Section: Hypercontractile Basementioning

confidence: 99%

Imaging of left ventricular outflow tract obstruction in hypertrophic cardiomyopathy

Stewart¹,

Elagizi²,

Gilliland³

2023

Current Opinion in Cardiology

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Purpose of reviewThe current article reviews obstructive forms of hypertrophic cardiomyopathy and associated morphologic cardiac abnormalities. It focuses on echocardiographic imaging of the left ventricular (LV) outflow tract obstruction, its evaluation, prognostication, and differentiation from other conditions mimicking obstructive hypertrophic cardiomyopathy.Recent findingsSymptomatic patients with LV outflow tract (LVOT) gradients at least 50 mmHg on maximally tolerated medical therapy are candidates for advanced therapies. Resting echocardiography may only identify 30% of patients with obstructive physiology. Provocative maneuvers are essential for symptomatic patients with hypertrophic cardiomyopathy (HCM). Exercise echocardiography is recommended if they fail to provoke a gradient. Although dynamic LV tract obstruction is seen with obstructive HCM, it is not specific to this condition and exists in other physiologic and pathophysiologic states. Careful clinical evaluation and imaging techniques aid in the differentiation of HCM from these conditions.SummaryImaging plays an integral role in the diagnosis, prognosis, and risk stratification of HCM patients. Newer imaging technologies, including 3D transthoracic echocardiography, 3D transesophageal, speckle-derived 2D strain, and cardiac MRI, allow for a better hemodynamic understanding of systolic anterior motion and LV tract obstruction. Evolving techniques, that is, artificial intelligence, will undoubtedly further increase diagnostic capabilities. Newer medical therapies are available with the hope that this will lead to better patient management.

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Role of Cardiac Magnetic Resonance in the Diagnosis of Infiltrative, Hypertrophic, and Arrhythmogenic Cardiomyopathies

Almeida¹,

Lopes²,

Ferreira³

et al. 2022

Front. Biosci. (Schol Ed)

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Cardiac magnetic resonance has become a reliable imaging modality providing structural and functional data, and fundamental information about tissue composition. Cardiac magnetic resonance imaging with late gadolinium enhancement, T1-mapping, T2-mapping, T2*-imaging, and extracellular volume, has proved to be a valuable tool in investigating the etiology of heart failure. Such analysis is helpful for the diagnostic evaluation of both ischemic and non-ischemic cardiomyopathies. As primary heart muscle diseases, the ability to characterize the myocardial substrate is essential. Determining the heart failure etiology is fundamental and has implications regarding the prognosis prediction and best treatment. Investigation in cardiac magnetic resonance in heart failure patients has grown in the past decade, and the true value of this imaging modality to detect early disease likely remains underestimated. This review describes the importance of cardiac magnetic resonance for the diagnosis and prognosis of non-ischemic cardiomyopathies, particularly hypertrophic, infiltrative, and arrhythmogenic cardiomyopathies.

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Advanced imaging for risk stratification of sudden death in hypertrophic cardiomyopathy

Cited by 3 publications

References 5 publications

Hypertrophic cardiomyopathy in MYBPC3 carriers in aging

Hypertrophic cardiomyopathy in MYBPC3 carriers in aging

Imaging of left ventricular outflow tract obstruction in hypertrophic cardiomyopathy

Role of Cardiac Magnetic Resonance in the Diagnosis of Infiltrative, Hypertrophic, and Arrhythmogenic Cardiomyopathies

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