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Plasma SVEP1 Levels Predict Cardiovascular Events in Hypertrophic Cardiomyopathy Beyond Conventional Clinical Risk Models Including NT-proBNP.
Circ Heart Fail
January 2025
Division of Cardiology, Department of Medicine (I.O., K.A., M.P.R., M.S.M., Y.J.S.).
Background: Hypertrophic cardiomyopathy is the most common genetic cardiomyopathy and causes major adverse cardiovascular events (MACE). SVEP1 (Sushi, von Willebrand factor type A, epidermal growth factor, and pentraxin domain containing 1) is a large extracellular matrix protein that is detectable in the plasma. However, it is unknown whether adding plasma SVEP1 levels to clinical predictors including NT-proBNP (N-terminal pro-B-type natriuretic peptide) improves the prognostication in patients with hypertrophic cardiomyopathy.
View Article and Find Full Text PDFCCL2-CCR2 axis in cardiovascular disease: Research advances and challenges.
Sci Bull (Beijing)
January 2025
Xijing Hypertrophic Cardiomyopathy Center, Department of Ultrasound, Xijing Hospital, The Airforce Military Medical University, 127 Changle West Road, Xi'an 710032, China. Electronic address:
Recent development in CRISPR-Cas systems for cardiac disease.
Prog Mol Biol Transl Sci
January 2025
Department of Microbiology, Gargi College, University of Delhi, New Delhi, India. Electronic address:
The CRISPR-Cas system has emerged as a revolutionary tool in genetic research, enabling highly precise gene editing and significantly advancing the field of cardiovascular science. This chapter provides a comprehensive overview of the latest developments in utilizing CRISPR-Cas technologies to investigate and treat heart diseases. It delves into the application of CRISPR-Cas9 for creating accurate models of complex cardiac conditions, such as hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and various arrhythmias, which are essential for understanding disease mechanisms and testing potential therapies.
View Article and Find Full Text PDFNovel c.221+1dup pathogenic variant in AGK gene linked to Sengers syndrome.
Neuromuscul Disord
December 2024
University of Florida College of Medicine - Jacksonville, Jacksonville, FL, USA.
Sengers Syndrome (SS) is a rare autosomal recessive mitochondrial disorder caused by mutations in the acylglycerol kinase (AGK) gene on chromosome 7, also known as cardiomyopathic mitochondrial DNA depletion syndrome (MTDPS10). This disorder disrupts mitochondrial DNA function and energy metabolism, presenting with symptoms such as congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Previous research has shown SS affects oxidative phosphorylation and mitochondrial respiration, implicating the TIM22 complex and carrier import.
View Article and Find Full Text PDFCritical Acute Left Ventricular Outflow Tract Obstruction Due to Cardiac Sarcoma.
JACC Case Rep
January 2025
Department of Cardiovascular Disease, Mayo Clinic, Rochester, Minnesota, USA.
Left ventricular outflow tract (LVOT) obstruction is mostly caused by hypertrophic obstructive cardiomyopathy and subaortic stenosis. Rarely, malignancy can lead to dynamic LVOT obstruction and has only been sporadically documented. We present the first case of dynamic and/or nearly fixed LVOT obstruction caused by a cardiac myxoid spindle cell sarcoma.
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