Results 61 to 70 of about 288,566 (272)

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

American Journal of Medical Genetics Part A, EarlyView.
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

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Surgical Treatment of Unusual Anatomy of the Tricuspid Valve in Ebstein’s Anomaly

Український журнал серцево-судинної хірургії
Ebstein’s anomaly is a congenital heart disease in which the septal and posterior leaflets of the tricuspid valve are displaced to the apex of the right ventricle, forming its atrialization.
Hanna V. Maistriuk, Iaroslav P. Truba, Serhii M. Boyko, Ivan V. Dziuryi   +3 more
doaj   +1 more source

A novel method of treament of ascending aortic aneurysm [PDF]

Кардіохірургія та інтервенційна кардіологія, 2020
The need for surgical treatment of ascending aortic aneurysms is due to a number of severe complications that occur during the natural course of the disease, such as aortic dissection and rupture.
V.B. Demyanchuk, V.V. Pogrebnyak, O.I. Kvasha, B.M. Todurov   +3 more
doaj   +1 more source

Commissural Misalignment Following Valve‐in‐Valve Transcatheter Aortic Valve Implantation

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Background Data on commissural misalignment (CMA) during valve‐in‐valve transcatheter aortic valve implantation (ViV‐TAVI) for valve failure after surgical aortic valve replacement (SAVR) is scarce. Aims To study the impact of CMA on clinical and hemodynamic outcomes following ViV‐TAVI for failed SAVR.
Matthias Raschpichler, Johannes Rotta Detto Loria, Vivek Patel, Thilo Noack, Karoline Nüsser, Oliver Dumpies, Dhairya Patel, Takashi Nagasaka, Prateek Madaan, Aakriti Gupta, Holger Thiele, Michael A. Borger, Raj Makkar, Mohamed Abdel‐Wahab   +13 more
wiley   +1 more source

Actual Experience of One and a Half Ventricle Repair in Patients with Ebstein’s Anomaly

Український журнал серцево-судинної хірургії, 2019
Introduction. Ebstein’s anomaly (EA) is a complex congenital heart defect involving mainly tricuspid valve (TV), right atrium and right ventricle (RV).
V. А. Khanenova, O. V. Stogova, A. Y. Hrytsaiuk, Y. L. Kuzmenko, M. S. Meshkova, T. A. Yalynska, R. M. Kostrakevych, І. М. Yemets   +7 more
doaj   +1 more source

MELD score predicts outcomes in patients with advanced heart failure: A longitudinal evaluation

ESC Heart Failure, Volume 12, Issue 2, Page 839-847, April 2025.
Abstract Aims Advanced heart failure (AHF) is characterized by recurrent episodes of haemodynamic instability and frequent hospitalizations, leading to a progressive decline in quality of life and high mortality rates. The objectives of this study were to evaluate the effect of the model for end‐stage liver disease (MELD) score and its variations in ...
Francesco Curcio, Cristiano Amarelli, Rosaria Chiappetti, Irene Mattucci, Veronica Flocco, Mahmoud Issa Rammal, Ciro Abete, Francesca Mazzella, Ciro Maiello, Pasquale Abete, Francesco Cacciatore   +10 more
wiley   +1 more source

TRICUSPID VALVE INSUFFICIENCY IN RECIPIENTS WITH TRANSPLANTED HEART

Вестник трансплантологии и искусственных органов, 2018
Tricuspid valve insuffi ciency is one of the most common variants of valve pathology of transplanted heart. The review is sanctifi ed to the analysis of modern looks to on causes, potentially infl uencing on development of tricuspid valve insuffi ciency of ...
V. I. Orlov, R. Sh. Saitgareev, A. O. Shevchenko   +2 more
doaj   +1 more source

Transthyretin amyloid cardiomyopathy: Literature review and red‐flag symptom clusters for each cardiology specialty

ESC Heart Failure, Volume 12, Issue 2, Page 955-967, April 2025.
Abstract Wild‐type transthyretin amyloid cardiomyopathy (ATTRwt‐CM) is a progressive and infiltrative cardiac disorder that may cause fatal consequences if left untreated. The estimated survival time from diagnosis is approximately 3–6 years. Because of the non‐specificity of initial symptom manifestation and insufficient awareness among treating ...
Yasuhiro Izumiya, Toru Kubo, Jin Endo, Seiji Takashio, Masatoshi Minamisawa, Jun Hamada, Tomonori Ishii, Hajime Abe, Hiroaki Konishi, Kenichi Tsujita   +9 more
wiley   +1 more source

Comprehensive exploration of unexplained dyspnoea in subjects with normal ejection fraction and low natriuretic peptides

ESC Heart Failure, Volume 12, Issue 2, Page 879-887, April 2025.
Abstract Background Unexplained exertional dyspnoea without significant elevation of natriuretic peptides is common. One of the causes might be early heart failure with preserved ejection fraction (HFpEF). Aims This study aimed to characterize patients with exertional dyspnoea and normal/near‐to‐normal N‐terminal pro‐brain natriuretic peptide (NT ...
Emmanuelle Berthelot, Tarek Laouar, Antoine Beurnier, Nataliya Hrynchynshyn, Jean Christophe Eicher, Jean‐Michel Tartière, Patrick Jourdain, Olivier Lairez, Barnabas Gellen   +8 more
wiley   +1 more source