Results 111 to 120 of about 48,528 (228)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Long-term outcome after mitral valve repair: a risk factor analysis [PDF]

, 2017
Objective: Mitral valve repair is the gold standard to restore mitral valve function and is now known to have good long-term outcome. In order to help perioperative decision making, we analyzed our collective to find independent risk factors affecting ...
Eisa, Karam, Hurni, Michel, Rey Meyer, Marie-Antoinette, Ruchat, Patrick, Stumpe, Frank, von Segesser, Ludwig K.   +5 more
core  

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 728-732, March 2026.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Cavernous hemangioma of the mitral valve – a rare heart tumor. А clinical case [PDF]

Кардіохірургія та інтервенційна кардіологія, 2018
The article presents a clinical case of a rare benign heart neoplasm – a cavernous mitral valve hemangioma. Infiltrative growth of the tumor led to deformation of the valve with the development of mitral insufficiency and its replacement with a ...
R.M. Vitovsky, O.A. Pishchurin, M.M. Serdyuk, V.V. Isaienko, V.F. Onishchenko   +4 more
doaj  

Rare Association of Absent Pulmonary Valve Syndrome with Double Outlet Right Ventricle and Hypoplastic Left Heart Complex [PDF]

, 2020
Arya, Bhawna, Buddhe, Sujatha, Chikkabyrappa, Sathish, Doshi, Arpan, Frandsen, Erik   +4 more
core   +2 more sources

Assessment of coronary sinus anatomy between normal and insufficient mitral valves by multi-slice computertomography for mitral annuloplasty device implantation [PDF]

, 2017
Introduction: Latest techniques enable positioning of devices into the coronary sinus (CS) for mitral valve (MV) annuloplasty. We evaluate the feasibility of non-invasive assessment to determine CS anatomy and its relation to MV annulus and coronary ...
Alkadhi, Hatem, Gaemperli, Oliver, Genoni, Michele, Grünenfelder, Jürg, Kaufmann, Philipp, Plass, Andre, Valenta, Ines, Zund, Gregor   +7 more
core  

Fully Automated Plane Prescription in Cardiac MRI: A Prospective Cohort Study

Journal of Magnetic Resonance Imaging, Volume 63, Issue 3, Page 891-903, March 2026.
ABSTRACT Background Accurate plane positioning is important for high‐quality cardiac MRI images but requires specialized training, limiting accessibility. Purpose To evaluate an automated plane positioning tool and compare it with manual planning. Study Type Prospective.
Benjamin Böttcher, Felix G. Meinel, Karolin K. Deyerberg, Lena‐Maria Watzke, Mathias Manzke, Margarita Gorodezky, Gaspar Delso, Antonia Dalmer, Anne Nerger, Marc‐André Weber, Ann‐Christin Klemenz   +10 more
wiley   +1 more source

Analysis of Echocardiography Indicators Depending on the Type of Surgical Correction of the Mitral Valve in Patients with Ischemic Heart Disease

Український журнал серцево-судинної хірургії
The aim. To study the influence of echocardiography indicators on the choice of surgical intervention on the mitral valve in patients with mitral insufficiency and coronary heart disease. Materials and methods.
Volodymyr S. Moroz, Vasyl V. Lazoryshynets   +1 more
doaj   +1 more source

The Mitral INsufficiency Echocardiographic score: A severity classification of myxomatous mitral valve disease in dogs. [PDF]

J Vet Intern Med, 2021
Vezzosi T, Grosso G, Tognetti R, Meucci V, Patata V, Marchesotti F, Domenech O.   +6 more
europepmc   +1 more source

Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk

Pediatric Blood &Cancer, Volume 73, Issue 2, February 2026.
ABSTRACT Children with congenital heart disease (CHD) have elevated neuroblastoma (NB) risk, potentially due to shared neural crest origins. We analyzed rare exonic de novo single‐nucleotide variants in 702 CHD and 454 NB trios from the Neuroblastoma Epidemiology in North America Study, Gabriella Miller Kids First Program, and a published cohort. Seven
Ji Yun Tark, Alexander Renwick, Yao Yu, Aniko Sabo, Andrew F. Olshan, Sharon E. Plon, Chad D. Huff, Philip J. Lupo   +7 more
wiley   +1 more source