Results 51 to 60 of about 363,528 (359)

Clinical overview on RASopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022
Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley   +1 more source

Controlled Comparison of Simulated Hemodynamics across Tricuspid and Bicuspid Aortic Valves [PDF]

, 2021
Bicuspid aortic valve is the most common congenital heart defect, affecting 1-2% of the global population. Patients with bicuspid valves frequently develop dilation and aneurysms of the ascending aorta. Both hemodynamic and genetic factors are believed to contribute to dilation, yet the precise mechanism underlying this progression remains under debate.
arxiv   +1 more source

Sudden cardiac death in adults with congenital heart disease: Lessons to Learn from the ATROPOS registry

International Journal of Cardiology Congenital Heart Disease, 2022
Sudden cardiac death (SCD) is one of the most frequent causes of death in adult patients with congenital heart disease (ACHD). Despite the rare frequency of its occurrence, the incident appears often when unexpected, and many affected patients had not ...
Alicia Jeanette Fischer, Ulrike MM. Bauer, Michael Frey, Jens Beudt, Helmut Baumgartner, Gerhard-Paul Diller   +5 more
doaj  

It Is Not Carved in Stone—The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies

Journal of Cardiovascular Development and Disease, 2022
(1) Background: In cardiomyopathies, identification of genetic variants is important for the correct diagnosis and impacts family cascade screening. A classification system was published by the American College of Medical Genetics and Genomics (ACMG) in ...
Dominik Sebastian Westphal, Kathrin Pollmann, Christoph Marschall, Annette Wacker-Gussmann, Renate Oberhoffer-Fritz, Karl-Ludwig Laugwitz, Peter Ewert, Cordula Maria Wolf   +7 more
doaj   +1 more source

Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects. [PDF]

, 2019
Conotruncal heart defects (CTDs) are among the most common and severe groups of congenital heart defects. Despite evidence of an inherited genetic contribution to CTDs, little is known about the specific genes that contribute to the development of CTDs ...
Agopian, AJ, Goldmuntz, Elizabeth, Hakonarson, Hakon, Mitchell, Laura E, Morrow, Bernice E, Pediatric Cardiac Genomics Consortium, Sewda, Anshuman, Taylor, Deanne   +7 more
core   +2 more sources

Congenital heart defects in IVF/ICSI pregnancy: systematic review and meta‐analysis

Ultrasound in Obstetrics and Gynecology, 2018
There is no consensus in current practice guidelines on whether conception by in-vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) techniques is an indication for performing a fetal echocardiogram.
V. Giorgione, F. Parazzini, V. Fesslova, S. Cipriani, M. Candiani, A. Inversetti, C. Sigismondi, F. Tiberio, P. Cavoretto   +8 more
semanticscholar   +1 more source

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 501-509, December 2022., 2022
Abstract Gene variants that dysregulate signaling through the RAS‐MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi‐system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications.
Daniel L. Kenney‐Jung, Dante J. Rogers, Samuel J. Kroening, Abigail L. Zatkalik, Ashley E. Whitmarsh, Amy E. Roberts, Martin Zenker, Maria Luigia Gambardella, Ilaria Contaldo, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Marco Tartaglia, Domenica I. Battaglia, Elizabeth I. Pierpont   +14 more
wiley   +1 more source

Spatio-Temporal Distribution and Demographic Characteristics of Congenital Heart Defects in Guangdong, China, 2016–2020

Frontiers in Public Health, 2022
BackgroundCongenital heart defects are the most common type of birth defects and bring a heavy disease burden in China. Examining the temporal and spatial trends of congenital heart defects epidemics can give some elementary knowledge for succeeding ...
Huazhang Miao, Huazhang Miao, Huazhang Miao, Qinghui Zeng, Zengping Shi, Yi Xia, Lushaobo Shi, Dongxue Chen, Pi Guo, Yingxian Zhu, Dong Wang   +10 more
doaj   +1 more source

Patient attitudes to sternotomy and thoracotomy scars [PDF]

, 2005
Young adults with congenital heart defects expressed dissatisfaction with their surgical scar. The impact extended to their social life and ability to form close relationships, and has implications for holistic practice.
Burn, John, Crossland, David, Hamilton, Leslie, Hasan, Asif, Jackson, Sue, Lyall, Rosalind, O'Sullivan, John   +6 more
core   +1 more source

Metal nickel exposure increase the risk of congenital heart defects occurrence in offspring

Medicine, 2019
Background: Previous studies have investigated heavy metal exposure could increase the occurrence of congenital heart defects (CHDs). However, there are limited data regarding the relationship between exposure to nickel and CHDs occurrence in offspring ...
Nan-nan Zhang, Ming Chen, Jun Li, Ying Deng, Shengli Li, Yixiong Guo, Nana Li, Yuan Lin, Ping Yu, Zhen Liu, Jun Zhu   +10 more
semanticscholar   +1 more source