Progress in precision medicine is limited by insufficient knowledge of transcriptomic or proteomic features in involved tissues that define pathobiological differences between patients.
Bradley A. Maron+14 more
doaj +2 more sources
Efficient in vivo genome editing prevents hypertrophic cardiomyopathy in mice
Dominant missense pathogenic variants in cardiac myosin heavy chain cause hypertrophic cardiomyopathy (HCM), a currently incurable disorder that increases risk for stroke, heart failure and sudden cardiac death.
D. Reichart+17 more
semanticscholar +1 more source
Mavacamten: a first-in-class myosin inhibitor for obstructive hypertrophic cardiomyopathy
Graphical Abstract Graphical Abstract The path to treatment of obstructive hypertrophic cardiomyopathy. (Top left) Haemodynamic observations demonstrated. Left ventricular (LV) obstruction and symptoms related to LV hypertrophy.
E. Braunwald+4 more
semanticscholar +1 more source
Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy resulting from a mutation in one of several cardiac sarcomeric proteins [...]
Asra K. Butt+7 more
openaire +3 more sources
Expanding the deep-learning model to diagnosis LVNC: Limitations and trade-offs [PDF]
Hyper-trabeculation or non-compaction in the left ventricle of the myocardium (LVNC) is a recently classified form of cardiomyopathy. Several methods have been proposed to quantify the trabeculae accurately in the left ventricle, but there is no general agreement in the medical community to use a particular approach.
arxiv +1 more source
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. The disease is characterized by marked variability in morphological expression and natural history, ranging from asymptomatic to heart failure or sudden cardiac death. Left ventricular hypertrophy and abnormal ventricular configuration result in dynamic left ventricular ...
Murillo de Oliveira Antunes+1 more
openaire +4 more sources
Altered Cardiac Energetics and Mitochondrial Dysfunction in Hypertrophic Cardiomyopathy
Supplemental Digital Content is available in the text. Background: Hypertrophic cardiomyopathy (HCM) is a complex disease partly explained by the effects of individual gene variants on sarcomeric protein biomechanics. At the cellular level, HCM mutations
Sara Ranjbarvaziri+22 more
semanticscholar +1 more source
Machine Learning Methods for Identifying Atrial Fibrillation Cases and Their Predictors in Patients With Hypertrophic Cardiomyopathy: The HCM-AF-Risk Model [PDF]
Hypertrophic cardiomyopathy (HCM) patients have a high incidence of atrial fibrillation (AF) and increased stroke risk, even with low risk of congestive heart failure, hypertension, age, diabetes, previous stroke/transient ischemic attack scores. Hence, there is a need to understand the pathophysiology of AF and stroke in HCM.
arxiv +1 more source
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy
Aims Childhood-onset hypertrophic cardiomyopathy (HCM) is far less common than adult-onset disease, thus natural history is not well characterized. We aim to describe the characteristics and outcomes of childhood-onset HCM.
N. Marston+16 more
semanticscholar +1 more source
Identifying Ventricular Arrhythmias and Their Predictors by Applying Machine Learning Methods to Electronic Health Records in Patients With Hypertrophic Cardiomyopathy(HCM-VAr-Risk Model) [PDF]
Clinical risk stratification for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HC) employs rules derived from American College of Cardiology Foundation/American Heart Association (ACCF/AHA) guidelines or the HCM Risk-SCD model (C-index of 0.69), which utilize a few clinical variables.
arxiv +1 more source