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A novel variant in the ABCA1 gene for Tangier Disease with diffuse histiocytosis of bone marrow.
J Clin Lipidol
December 2024
Internal Medicine Department, Coimbra's Healthcare Integrated Delivery System, Praceta Professor Mota Pinto, 3004-561, Coimbra, Portugal.
Tangier disease is an extremely rare autosomal recessive monogenic disorder caused by mutations in the ATP binding cassette transporter A1 gene (ABCA1). It is characterized by severe deficiency or absence of high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA1), with highly variable clinical presentations depending on cholesterol accumulation in macrophages across different tissues. We report a case of a 47-year-old man with very low HDL-C and very high triglyceride levels, initially attributed to the patient's metabolic syndrome, alcohol abuse, and splenomegaly.
View Article and Find Full Text PDFST-elevation myocardial infarction incidence in a high-risk seismic zone.
Am J Emerg Med
January 2025
Instituto Nacional de Cardiología Ignacio Chávez, Coronary Care Unit, Juan Badiano 1, Sección XVI, Tlalpan 14080, Ciudad De México, Mexico.
Introduction: Earthquakes are unpredictable natural events that can elicit acute physiological responses, potentially triggering cardiovascular events. This study investigates the association between seismic activity and ST-elevation myocardial infarction (STEMI) admissions in a tertiary care hospital in an earthquake-prone region over 19 years.
Methods: We analyzed STEMI admissions at a tertiary center in Mexico City from October 2005 to August 2024.
Minimal extra-cardiac atherosclerosis present in young people with sudden cardiac death due to coronary artery disease.
Eur J Prev Cardiol
January 2025
St Vincent's Institute of Medical Research, 9 Princes St Fitzroy VIC 3065 Australia.
Aim: To define the association between severe coronary artery disease and widespread atherosclerosis in younger individuals.
Methods: Individuals aged 1-50 years with sudden cardiac death (SCD) from 2019-23, autopsy-proven to be due to coronary artery disease, were identified using the state-wide EndUCD registry. Presence of extra-coronary atherosclerosis greater than modified American Heart Association class III was assessed in 5 arterial beds (intra-cerebral vessels, aorta, carotid, renal and femoral arteries).
Long-Term Clinical Impact of Paravalvular Leak Following Transcatheter Aortic Valve Implantation.
J Clin Med
January 2025
National Center for Global Health, Istituto Superiore di Sanitá, 00161 Rome, Italy.
Paravalvular leak (PVL) was initially recognized as one of the most common complications after transcatheter aortic valve implantation (TAVI) and has been linked to adverse clinical outcomes, including mortality. This study aims to assess the long-term clinical effects of PVL in patients undergoing TAVI with the latest generation of transcatheter aortic valves, as part of the national observational prospective multicenter study OBSERVANT II. OBSERVANT II included all consecutive patients with severe aortic stenosis who underwent TAVI across 28 Italian centers from December 2016 to September 2018.
View Article and Find Full Text PDFUsefulness of Echocardiographic Parameters of Myocardial Work in Patients with Aortic Stenosis Undergoing Transcatheter Aortic Valve Implantation.
J Clin Med
January 2025
2nd Department of Cardiology, Jagiellonian University Medical College, 31-008 Krakow, Poland.
Myocardial work (MW) is a new echocardiographic parameter used in the assessment of cardiac energy expenditure. The aim of the current study was to evaluate changes in left ventricular MW parameters in patients with severe aortic stenosis undergoing transcatheter aortic valve implantation (TAVI). One hundred and thirty five consecutive patients who underwent TAVI at one center were evaluated before and after the procedure using transthoracic echocardiography (TTE) to assess the following MW indices: global constructive work (GCW), global wasted work (GWW), global work index (GWI) and global work efficiency (GWE).
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