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ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim +8 more
wiley +1 more source
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
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Valves, Vegetations, and Valves
Journal of Invasive Cardiology, 2022We present a novel method for the treatment of right-sided bioprosthetic valve endocarditis with AngioVac debulking followed by percutaneous pulmonic and tricuspid valve replacement for residual transcatheter valve degeneration and right ventricular dysfunction.
Gregory Judson, Vaikom Mahadevan
openaire +2 more sources
Deformation of transcatheter heart valves with mitral valve-in-valve
EuroIntervention, 2023The use of oversizing in mitral valve-in-valve (MViV) procedures can lead to non-uniform expansion of transcatheter heart valves (THV). This may have implications for THV durability.The objective of this study was to assess the extent and predictors of THV deformation in MViV procedures.We examined 33 patients who underwent MViV with SAPIEN prostheses.
Miho, Fukui +12 more
openaire +2 more sources
Transcaval Valve-in-Valve-in-Valve Aortic Valve Replacement for Bioprosthetic Valve Degeneration
Innovations: Technology and Techniques in Cardiothoracic and Vascular Surgery, 2018A 74-year-old man presented with progressive dyspnea on exertion. History included peripheral arterial disease and coronary artery bypass grafting with aortic valve replacement 12 years ago. Subsequently, the surgical valve developed severe stenosis and moderate insufficiency.
A Claire, Watkins +5 more
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Valve‐in‐valve‐in‐valve: Treating endocarditis of a transcatheter heart valve
Catheterization and Cardiovascular Interventions, 2015Transcatheter heart valve endocarditis is a rare, but life threatening complication. We describe the case of a patient who was successfully treated by transcatheter aortic valve‐in‐valve‐in‐valve replacement with a favorable 1‐year outcome, despite severe early complications. © 2015 Wiley Periodicals, Inc.
Caroline, Nguyen +2 more
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BMJ Case Reports
In the case of the degeneration of surgical aortic valve replacement (SAVR), the transcatheter aortic valve implantation (TAVI) has become the standard. However, these valves are also susceptible to deterioration. In such instances, a new TAVI implantation may be considered. We present the case of a patient with a SAVR who underwent two TAVI procedures,
Selma Tosca Cook +3 more
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In the case of the degeneration of surgical aortic valve replacement (SAVR), the transcatheter aortic valve implantation (TAVI) has become the standard. However, these valves are also susceptible to deterioration. In such instances, a new TAVI implantation may be considered. We present the case of a patient with a SAVR who underwent two TAVI procedures,
Selma Tosca Cook +3 more
openaire +2 more sources

