Results 41 to 50 of about 202,517 (312)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Case Report: The hybrid cable technique in transcatheter mitral valve implantation with Myval THV—Technical insights from three high-risk cases

Frontiers in Cardiovascular Medicine
BackgroundTranscatheter mitral valve implantation (TMVI) is increasingly utilized as a minimally invasive alternative for high-risk or inoperable patients with degenerated mitral prostheses or extensive mitral annular calcification (MAC).
Giuseppe Nasso, Giuseppe Nasso, Giovanni Goffredo, Antonio Pignatelli, Alfredo Marchese, Flavio Fiore, Antongiulio Valenzano, Giacomo Errico, Giacomo Schinco, Raffaele Bonifazi, Tommaso Loizzo, Dritan Hila, Walter Vignaroli, Walter Vignaroli, Giuseppe Speziale, Giuseppe Speziale, Gaetano Contegiacomo   +16 more
doaj   +1 more source

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Mitral Annular Disjunction and Arrhythmic Risk: Case Series and State of the Art

Biomedicines
Background: Mitral annular disjunction (MAD) is an anatomical abnormality associated with an increased risk of major arrhythmic events, regardless of the presence of mitral valve prolapse.
Marisa Varrenti, Eleonora Bonvicini, Leandro Fabrizio Milillo, Ilaria Garofani, Lorenzo Gigli, Matteo Baroni, Alberto Preda, Marco Carbonaro, Roberto Menè, Giulia Colombo, Antonio Frontera, Raffaele Falco, Federica Giordano, Sara Vargiu, Fabrizio Guarracini, Patrizia Pedrotti, Cristina Giannattasio, Patrizio Mazzone   +17 more
doaj   +1 more source

Mitral annular calcification leading to severe mitral stenosis in a patient with severe calcific aortic stenosis and complete heart block: Different shades of calcium in heart

Journal of Indian College of Cardiology, 2022
Calcium deposition in the heart can present in various ways. Mitral annular calcification (MAC) can cause mitral regurgitation but severe mitral stenosis has been reported very rarely.
Najeeb Ullah Sofi, Santosh Kumar Sinha, Mohit Sachan   +2 more
doaj   +1 more source

The role of transcatheter mitral valve leaflet approximation for the treatment of secondary mitral regurgitation: current status and future prospects.

, 2021
Introduction: Secondary mitral regurgitation (SMR) is one of the most common valvulopathies and is associated with poor prognosis. Over the past years, medical management and mitral valve repair options have rapidly evolved offering new opportunities for
Brugger, Nicolas, Windecker, Stephan, Corpataux, Noé, Praz, Fabien, Reineke, David, Vahanian, Alec, Hunziker, Lukas   +6 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
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, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Assessment of Early Outcome of Antrolateral Thoracotomy Approach for Mitral Valve surgeries [PDF]

Zagazig University Medical Journal
Background: Mitral valve medical procedures have been customarily performed through middle sternotomy. As of late, negligibly intrusive mitral valve medical procedure has acquired endorsement by numerous specialists with leaned toward postoperative ...
Ahmed Fadaly, Dina Shemais, Gehad mahmoud, Karim Elfakharany   +3 more
doaj   +1 more source

Refining a preclinical model of viral myocarditis in accordance with biotech standards

Animal Models and Experimental Medicine, EarlyView.
This study aimed to refine a murine model of Coxsackievirus B3‐induced myocarditis by integrating dietary and imaging innovations to improve animal welfare, data quality, and clinical applicability. The refined diet significantly reduced animal health burden, reduced weight loss, and stabilized blood glucose during development of cardiac inflammation ...
Jonas Stewen, Julia Riedesel, Juliane Stein, Brandon H. Greene, Svenja Rohde, Sonja Suess, Bjoern Keiner, Priya Panjwani, Padmapriya Ponnuswamy, Juan E. Camacho Londoño   +9 more
wiley   +1 more source

Avaliação de fatores associados à prevalência de fibrilação atrial em pacientes submetidos à cirurgia da valva mitral: 15 anos de experiência de um serviço de cirurgia cardíaca. [PDF]

, 2007
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Ritta, Raphael Corrêa Santa
core