Results 51 to 60 of about 690,120 (348)

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Heart valve operations associated with reduced risk of death from mitral valve disease but other operations associated with increased risk of death: a national population-based case–control study

Journal of Cardiothoracic Surgery, 2019
Background Mitral valve disease is the most common heart valve disease worldwide. Heart valve operation is the predominant treatment strategy for heart valve disease.
Ruo-Ling Li, Ci-Wen Luo, Yung-Chyuan Ho, Shiuan-Shinn Lee, Yu-Hsiang Kuan   +4 more
doaj   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

Emergency transapical mitral valve-in-valve implantation for bioprosthesis failure: transapical implantation of an Edwards Sapien-XT in a dysfunctional mitral bioprosthesis in a critical patient

Journal of Cardiothoracic Surgery, 2017
Background Valve-in-Valve (VIV) Transcatheter Aortic Valve Replacement (TAVR) is now the treatment of choice in high-surgical-risk patients with failing aortic bioprosthesis. Although less performed, VIV-Transcatheter Mitral Valve Replacement (TMVR) is a
Marco Zanobini, Sabrina Manganiello, Giorgia Bonalumi, Raoul Biondi, Marco Russo, Massimo Mapelli, Francesco Alamanni, Matteo Saccocci   +7 more
doaj   +1 more source

3D echocardiography in mitral valve prolapse

Frontiers in Cardiovascular Medicine, 2023
Mitral valve prolapse (MVP) is the leading cause of mitral valve surgery. Echocardiography is the principal imaging modality used to diagnose MVP, assess the mitral valve morphology and mitral annulus dynamics, and quantify mitral regurgitation.
Valentina Mantegazza, Valentina Mantegazza, Paola Gripari, Gloria Tamborini, Manuela Muratori, Laura Fusini, Laura Fusini, Sarah Ghulam Ali, Anna Garlaschè, Mauro Pepi   +9 more
doaj   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Repeat crossclamp after failed initial degenerative mitral valve repair is safe and successfulCentral MessagePerspective

JTCVS Open, 2023
Objective: Surgical risk and long-term outcomes when re-crossclamp is required during degenerative mitral valve repair are unknown. We examined the outcomes of patients who required re-crossclamp for mitral valve reintervention.
Catherine M. Wagner, MD, Whitney W. Fu, MD, Alexander A. Brescia, MD, MSc, Robert B. Hawkins, MD, MSc, Matthew A. Romano, MD, Gorav Ailawadi, MD, MBA, Steven F. Bolling, MD   +6 more
doaj  

Mitral Valve Imaging with CT: Relationship with Transcatheter Mitral Valve Interventions.

Radiology, 2018
The role of noninvasive imaging to help guide transcatheter aortic valvular interventions is well established and has grown with the advances in the procedure.
J. Weir-McCall, P. Blanke, C. Naoum, V. Delgado, Jeroen J. Bax, J. Leipsic   +5 more
semanticscholar   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Relationship between incidentally detected calcification of the mitral valve on 64-row multidetector computed tomography and mitral valve disease on echocardiography

International Journal of General Medicine, 2012
Mehrnoush Toufan,1 Reza Javadrashid,2 Neda Paak,2 Morteza Gojazadeh,3 Majid Khalili41Cardiovascular Research Center, 2Department of Radiology, 3Medical Philosophy and History Research Center, Tabriz University of Medical Sciences, Tabriz, Iran ...
Toufan M, Javadrashid R, Paak N, Gojazadeh M, Khalili M   +4 more
doaj