Results 21 to 30 of about 363,528 (359)
Life, 2022 Patients with refractory heart failure due to chronic progressive cardiac myopathy (CM) may require mechanical circulatory support as a bridge to transplantation. A few patients can be weaned from support devices if recovery can be achieved.
Anca Racolta +8 more
doaj +1 more source
Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023 Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler +21 more
wiley +1 more source
Cardiac troponin T is necessary for normal development in the embryonic chick heart [PDF]
, 2016 The heart is the first functioning organ to develop during embryogenesis. The formation of the heart is a tightly regulated and complex process, and alterations to its development can result in congenital heart defects.
England, Jennifer +4 more
core +4 more sources
Why are congenital heart defects being missed?
Ultrasound in Obstetrics and Gynecology, 2020 Congenital heart defects (CHD) are still missed frequently in prenatal screening programs, which can result in severe morbidity or even death. The aim of this study was to evaluate the quality of fetal heart images, obtained during the second‐trimester ...
A. Nisselrooij +9 more
semanticscholar +1 more source
Portuguese Journal of Pediatrics (former Acta Pediátrica Portuguesa), 2020 Portuguese Journal of Pediatrics, Vol. 51 No. 2 (2020)
Mendes, Pedro, Rocha, Gustavo
openaire +2 more sources
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020 Noonan syndrome is a pleomorphic genetic disorder, in which a high percentage of affected individuals have cardiovascular involvement, most prevalently various forms of congenital heart disease (i.e., pulmonary valve stenosis, septal defects, left‐sided ...
Léa Linglart, B. Gelb
semanticscholar +1 more source
The Egyptian Journal of Radiology and Nuclear Medicine, 2020 Background Comparing four-dimensional flow against two-dimensional flow measurements in patients with complex flow pattern is still lacking. This study aimed to compare four-dimensional against the two-dimensional flow measurement in patients with ...
Ahmed Kharabish +7 more
doaj +1 more source
Cardiogenetics, 2022 Long QT syndrome (LQTS) is an inherited arrhythmic disorder associated with sudden cardiac death (SCD). This study aimed to identify the clinical and molecular genetic risk factors that contribute to major arrhythmic events (MAEs) in patients with ...
Tobias Burkard +5 more
doaj +1 more source
Congenital Heart Defects in Adulthood [PDF]
Deutsches Ärzteblatt international, 2011 More than 90% of children with congenital heart defects now survive into adulthood; just a few decades ago, survival was rare, particularly among patients with complex defects. The new population of adults with congenital heart disease presents a special challenge to physicians from all of the involved specialties.Selective literature review.A complete
Helmut Baumgartner +2 more
openaire +3 more sources
, 2023 American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 284-288, January 2023.
Lucia Pia Bruno +11 more
wiley +1 more source