Background: Hypertrophic cardiomyopathy (HCM) is a genetic cardiovascular disorder characterized by unexplained left ventricular hypertrophy, affecting approximately 0.2% of the global population. Around 40% of HCM cases are linked to mutations in sarcomeric protein genes such as β-myosin heavy chain and myosin-binding protein C, which impair calcium signaling and myocardial contractility. Objective: This review aims to explore the therapeutic potential of cardiac myosin inhibitors (CMIs) by assessing their effects on the underlying pathophysiology of HCM, specifically targeting sarcomere function and hypercontractility. Methods: A literature search from 2013 to 2024 using PubMed and Google Scholar identified studies on CMIs in HCM. Relevant trials and reviews were selected based on strict criteria. Two reviewers screened studies, and findings on mechanisms, efficacy, safety, and outcomes were narratively synthesized for analysis. Results: Recent studies have highlighted the role of cardiac fibroblasts and transforming growth factor-β signaling in the development of myocardial fibrosis in HCM. CMIs have shown effectiveness in reducing left ventricular outflow tract gradients, improving exercise tolerance, and lowering biomarkers such as N-terminal pro-b-type natriuretic peptide, without significantly affecting left ventricular ejection fraction (LVEF). Compared to beta-blockers and calcium channel blockers, CMIs offer a targeted approach by modulating sarcomere activity. Conclusion: CMIs represent a promising and mechanism-based treatment for HCM. Their potential to reduce the need for invasive procedures and improve patient outcomes highlights the importance of their integration into clinical practice. Further large-scale trials are needed to establish long-term safety, cost-effectiveness, and broader clinical applicability.
Introduction: Renal cell carcinoma (RCC) usually presents with the classic three signs: flank pain, blood in the urine, and a palpable mass in the abdomen. Presentation of case: We present a case of a 54-year-old woman who exhibited altered bowel habits. Cholecystectomy was scheduled after the identification of gallstones; however, a preoperative CT scan inadvertently disclosed RCC. The tumor affected the renal vein and extended into the ureter. The patient underwent a radical nephrectomy, during which the renal vessels were tied off with Vicryl sutures, and the ureter was cut up to the vesicoureteral junction. Clinical discussion: To our knowledge, this constitutes an uncommon incidental discovery of clear cell carcinoma in a patient lacking typical RCC symptoms, demonstrating intraluminal extension into the ureter. This pattern of dissemination is not delineated in the current literature, nor is it referenced by the existing AJCC staging system. Conclusion: This case may indicate the necessity for reevaluation or alteration of the AJCC guidelines to accommodate intraluminal ureteric extension in clear cell RCC.