Results 1 to 10 of about 17,649 (196)

A <i>PDLIM7</i> Variant in Familial Mitral Valve Prolapse: A Case Series. [PDF]

Clin Case Rep
ABSTRACT In the presented case of familial mitral valve prolapse, whole exome sequencing was used to reveal a missense variant in the PDLIM7 gene. This gene is considered a possible novel candidate gene for familial MVP based on PDLIM7 knock‐out mice and zebrafish showing mitral valve abnormalities.
van Wijngaarden AL, Koopmann TT, Ruivenkamp CAL, Wu HW, Ajmone Marsan N, Barge-Schaapveld DQCM.   +5 more
europepmc   +2 more sources

Mitral annular disjunction in surgical mitral valve prolapse: prevalence, characteristics and outcomes [PDF]

Echo Research and Practice, 2023
Background There is a paucity of literature regarding outcomes of patients with mitral valve prolapse (MVP) and mitral annular disjunction (MAD) after mitral surgery, with many unanswered questions including the post-surgical persistence of MAD, effect ...
Rhys Gray, Praveen Indraratna, Gregory Cranney, Hebe Lam, Jennifer Yu, Gita Mathur   +5 more
doaj   +2 more sources

3D echocardiography in mitral valve prolapse [PDF]

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   +2 more sources

Stroke in the young: infective endocarditis due to mitral valve prolapse leading to acute ischemic stroke and subsequent hemorrhagic transformation [PDF]

International Journal of Emergency Medicine
Background Stroke in young needs an individualized approach before considering thrombolysis. Here we present a case of undiagnosed mitral valve prolapse presenting with stroke due to associated infective endocarditis.
Kajal Arora, Amarja Ashok Havaldar
doaj   +2 more sources

Should mitral valve prolapse be considered as one of the risk factors for open angle glaucoma? A preliminary observation [PDF]

International Journal of Ophthalmology, 2022
AIM: To assess the incidence of mitral valve prolapse in patients with newly diagnosed primary open angle glaucoma. METHODS: The study included 12 patients without any other comorbidities or taking any general or local medications. Each patient underwent
Ewa Grudzińska, Malgorzata Peregud-Pogorzelska, Daniel Zaborski, Monika Modrzejewska   +3 more
doaj   +1 more source

Arrhythmic Mitral Valve Prolapse: Introducing an Era of Multimodality Imaging-Based Diagnosis and Risk Stratification

Diagnostics, 2021
Mitral valve prolapse is a common cardiac condition, with an estimated prevalence between 1% and 3%. Most patients have a benign course, but ever since its initial description mitral valve prolapse has been associated to sudden cardiac death.
Deni Kukavica, Marco Guglielmo, Andrea Baggiano, Giuseppe Muscogiuri, Laura Fusini, Manuela Muratori, Gloria Tamborini, Valentina Mantegazza, Alessandro Trancuccio, Carlo Arnò, Andrea Mazzanti, Mauro Pepi, Silvia Giuliana Priori, Gianluca Pontone   +13 more
doaj   +1 more source

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 479-489, February 2023., 2023
Abstract To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 variant type (haploinsufficiency [HI]/dominant negative [DN]) on growth, and compare MFS‐related height increase across populations.
Peter Lauffer, Gerard Pals, Aeilko H. Zwinderman, Floor A. M. Postema, Marieke J. H. Baars, Eelco Dulfer, Yvonne Hilhorst‐Hofstee, Arjan C. Houweling, Marlies Kempers, Ingrid P. C. Krapels, Ingrid M. B. H. van de Laar, Bart Loeys, Alexander M. J. Spaans, Jessica Warnink‐Kavelaars, Vivian de Waard, Jan M. Wit, Leonie A. Menke   +16 more
wiley   +1 more source

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 425-439, December 2022., 2022
Abstract Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS‐MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively ...
Marco Tartaglia, Yoko Aoki, Bruce D. Gelb   +2 more
wiley   +1 more source

Status of the collagen metabolism and intracardiac hemodynamics in patients with mitral valve prolapse and diabetes mellitus type 1

Journal of V. N. Karazin Kharkiv National University: Series Medicine, 2021
Summary. Mitral valve prolapse is a significant cardiovascular risk factor in young adults. Its combination with type 1 diabetes mellitus can influence the nature and development of the disease.
Olena Nikolenko, Ivan Smirnov
doaj   +1 more source

Survival benefit of overweight patients undergoing MitraClip® procedure in comparison to normal‐weight patients

Clinical Cardiology, Volume 45, Issue 12, Page 1236-1245, December 2022., 2022
Long‐term survival stratified for weight classes illustrated by Hazard plot for patients treated with MitraClip® implantation stratified for weight classes. Association of weight class compared to normal‐weight with long‐term survival (adjusted for Logistic EuroScore).
Karsten Keller, Martin Geyer, Lukas Hobohm, Alexander R. Tamm, Felix Kreidel, Tobias F. Ruf, Michaela Hell, Volker H. Schmitt, Kevin Bachmann, Sonja Born, Eberhard Schulz, Thomas Münzel, Ralph S. von Bardeleben   +12 more
wiley   +1 more source