In this case report, we investigated the potential link between SMAD3/transforming growth factor β (TGF-β) pathway dysregulation and aortic valvular disease. We report a middle-aged female, heterozygous for the R18W novel variant of the SMAD3 gene, with a history of an aortic valve disorder and three aortic valve replacements in a span of 15 years. The patient neither has a history of congenital connective tissue disorders nor any known congenital valvular defects. The patient had genetic testing for thoracic aortic aneurysm and dissection (TAAD)/Marfan syndrome/related disorders. She was found to be heterozygous for the p.Arg18Trp (R18W) protein variant of the SMAD3 gene (chromosome position 15:67430416), coding DNA c.52 C>T. Members of the transforming growth factor β (TGF-β) family and their downstream signaling proteins, including SMAD, are important for establishing proper embryogenic development and maintaining adult tissue homeostasis. Investigating the disturbances within the TGF-β signaling pathways may provide insightful knowledge of how genetic factors can cause structural and functional valvular defects.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10209652 | PMC |
| http://dx.doi.org/10.7759/cureus.37998 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Impact of kidney volume on incidence of in-hospital kidney-related adverse outcomes in patients with acute heart failure.
BMC Cardiovasc Disord
January 2025
Graduate School of Public Health, St Luke's International University, Tokyo, Japan.
Background: Recent studies revealed an association between small kidney volume and progression of kidney dysfunction in particular settings such as kidney transplantation and transcatheter aortic valve implantation. We hypothesized that kidney volume was associated with the incidence of kidney-related adverse outcomes such as worsening renal function (WRF) in patients with acute heart failure (AHF).
Methods: This study was a single-center retrospective cohort study.
Molecular Therapeutics in Development to Treat Hyperlipoproteinemia.
Mol Diagn Ther
January 2025
Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 4288A-1151 Richmond Street North, London, ON, N6A 5B7, Canada.
Clinical endpoints caused by hyperlipoproteinemia include atherosclerotic cardiovascular disease and acute pancreatitis. Emerging lipid-lowering therapies targeting proprotein convertase subtilisin/kexin 9 (PCSK9), lipoprotein(a), apolipoprotein C-III, and angiopoietin-like protein 3 represent promising advances in the management of patients with hyperlipoproteinemia. These therapies offer novel approaches for lowering pathogenic lipid and lipoprotein species, particularly in patients with serious perturbations who are not adequately controlled with conventional treatments or who are unable to tolerate them.
View Article and Find Full Text PDFA Novel Staging System of Cardiac Damage in Aortic Stenosis based on Multi-Chamber Myocardial Deformation.
Eur Heart J Cardiovasc Imaging
January 2025
Department of Cardiology, Istituto Auxologico Italiano, IRCCS, Milan, Italy.
Aims: This study evaluates whether multi-chamber myocardial deformation analysis using speckle tracking echocardiography (STE) can enhance validated current staging systems and improve risk stratification for patients with moderate-to-severe aortic stenosis (AS).
Methods And Results: We reanalyzed 2D, Doppler, and STE data obtained from two cohorts: derivation (654 patients, median age: 82 years; 51% men) and validation (237 patients, median age: 77 years; 55% men) with at least moderate AS (aortic valve area<1.5 cm2).
Ross procedure for aortic regurgitation versus stenosis in adults with and without autograft support.
Eur J Cardiothorac Surg
January 2025
Department of Cardiac Surgery, University Hospital Quironsalud Madrid, Spain.
Objectives: The Ross procedure for aortic regurgitation (AR) and abnormal aortic valve morphologies is associated with an increased risk of autograft dilatation. Autograft support may ameliorate this problem. We analyzed the results for all haemodynamic lesions and the effect of autograft support.
View Article and Find Full Text PDFRe-sheathing failure with Navitor during transcatheter aortic valve implantation: a case report.
Eur Heart J Case Rep
January 2025
The Second Department of Internal Medicine, University of Toyama, 2630 Sugitani, Toyama, Toyama 930-0194, Japan.
Background: Self-expanding valves used in transcatheter aortic valve implantation (TAVI) are designed to allow recapture and repositioning, facilitating optimal placement and mitigating conduction disturbances and paravalvular leakage. Here, we present a rare case in which the Navitor (Abbott Structural Heart, Santa Clara, CA, USA) could not be recaptured.
Case Summary: An 81-year-old Japanese woman with very severe aortic stenosis and a massively calcified nodule at the non-coronary cusp (NCC) underwent TAVI with a 25 mm Navitor valve.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!