Described herein are certain findings in 2 male cousins who underwent cardiac transplantation for severe heart failure (HF), one of the diastolic type (ejection fraction ≈65%), and one of the systolic type (ejection fraction ≈20%), both the consequence of hypertrophic cardiomyopathy (HC), and each had identical disease-causing gene mutations. The implanted heart in one had normal-sized ventricular cavities and no grossly visible ventricular wall lesions (except in one papillary muscle) and the other patient had severely dilated ventricular cavities and multiple extensive ventricular wall scars. The heart mass and the age of onset of symptoms was similar in each patient. A number of other family members had evidence of HC.
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http://dx.doi.org/10.1016/j.amjcard.2013.02.042 | DOI Listing |
Cardiol Rev
October 2024
Department of Cardiology, Royal Devon University Healthcare National Health Service Foundation Trust, Exeter, United Kingdom.
Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disorder characterized by structural and functional abnormalities. Current management strategies, such as medications and septal reduction therapies, have significant limitations and risks. Recently, cardiac myosin inhibitors (CMIs) like mavacamten and aficamten have shown promise as noninvasive treatment options.
View Article and Find Full Text PDFJ Cardiovasc Dev Dis
December 2024
3rd Department of Cardiology, "Sotiria" Chest Diseases Hospital, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece.
Hypertrophic cardiomyopathy (HCM) is a complex and heterogeneous cardiac disorder, often complicated by cardiogenic shock, a life-threatening condition marked by severe cardiac output failure. Managing cardiogenic shock in HCM patients presents unique challenges due to the distinct pathophysiology of the disease, which includes dynamic left ventricular outflow tract obstruction, diastolic dysfunction, and myocardial ischemia. This review discusses current and emerging therapeutic strategies tailored to address the complexities of HCM-associated cardiogenic shock and other diseases with similar pathophysiology that provoke left ventricular outflow tract obstruction.
View Article and Find Full Text PDFMedeni Med J
December 2024
Dr Siyami Ersek Thoracic and Cardiovascular Surgery Training Hospital, Clinic of Cardiology, Istanbul, Turkey.
Objective: Despite significant advances in understanding hypertrophic cardiomyopathy (HCM) in recent years, there is a need to improve risk stratification for patients at high risk of adverse outcomes. The relationship between inflammation and disease severity in HCM patients is known. Recently, a new inflammation parameter called the pan-immune inflammation value (PIV) has been introduced.
View Article and Find Full Text PDFMol Genet Genomics
December 2024
Department of Cardiovascular Medicne, The Second Affiliated Hospital of Nanchang University, No.1 Minde Road, Nanchang, 330006, P.R. China.
Our study examined the relationships and interactions among 30 genes related to the NOD-like receptor protein 3 (NLRP3) inflammasome. We identified 368 interconnections between these 30 genes, with NLRP3 participating in 38 interactions. The potential roles of these genes in atherosclerosis were evaluated based on protein-protein interaction networks and coexpression analysis.
View Article and Find Full Text PDFAm J Cardiol
December 2024
Northwestern University, Feinberg School of Medicine, Chicago IL 60611; The Hypertrophic Cardiomyopathy Program at the Bluhm Cardiovascular Institute, Chicago IL 60611; Bluhm Cardiovascular Institute, Northwestern Memorial Hospital, Chicago IL 60611.
Background: Obstructive hypertrophic cardiomyopathy (HCM) is associated with significant morbidity due to left ventricular outflow tract (LVOT) obstruction. While alcohol septal ablation (ASA) is an established interventional treatment, mavacamten, a novel cardiac myosin inhibitor, has emerged as a non-invasive pharmacological alternative. Understanding the comparative efficacy of these two treatments is important for optimizing patient care.
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