Results 1 to 10 of about 320,100 (253)

Heart Development and Congenital Structural Heart Defects [PDF]

Annual Review of Genomics and Human Genetics, 2021
Congenital heart disease is the most frequent birth defect and the leading cause of death for the fetus and in the first year of life. The wide phenotypic diversity of congenital heart defects requires expert diagnosis and sophisticated repair surgery. Although these defects have been described since the seventeenth century, it was only in 2005 that a ...
Houyel, Lucile, Meilhac, Sigolène
core   +5 more sources

Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study [PDF]

npj Genomic Medicine
Several studies have demonstrated the value of large-scale human exome and genome data analysis to maximise gene discovery in rare diseases. Using this approach, we have analysed the exomes of 4747 cases and 52,881 controls to identify genes which confer
Enrique Audain, Anna Wilsdon, Gregor Dombrowsky, Alejandro Sifrim, Jeroen Breckpot, Yasset Perez-Riverol, Siobhan Loughna, Allan Daly, Pavlos Antoniou, Philipp Hofmann, Amilcar Perez-Riverol, Anne-Karin Kahlert, Ulrike Bauer, Thomas Pickardt, Sabine Klaassen, Felix Berger, Ingo Daehnert, Sven Dittrich, Brigitte Stiller, Hashim Abdul-Khaliq, Frances Bu’lock, Anselm Uebing, Hans-Heiner Kramer, Vivek Iyer, Lars Allan Larsen, J. David Brook, Marc-Phillip Hitz   +26 more
doaj   +2 more sources

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
Gerhard-Paul, Diller, Günter, Breithardt, Helmut, Baumgartner   +2 more
openaire   +2 more sources

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   +1 more source

Peak Oxygen Uptake on Cardiopulmonary Exercise Test Is a Predictor for Severe Arrhythmic Events during Three-Year Follow-Up in Patients with Complex Congenital Heart Disease

Journal of Cardiovascular Development and Disease, 2022
Patients with congenital heart disease (CHD) are at increased risk for severe arrhythmia and sudden cardiac death (SCD). Although implantable cardioverter defibrillators (ICD) effectively prevent SCD, risk stratification for primary prophylaxis in ...
Felix von Sanden, Svetlana Ptushkina, Julia Hock, Celina Fritz, Jürgen Hörer, Gabriele Hessling, Peter Ewert, Alfred Hager, Cordula M. Wolf   +8 more
doaj   +1 more source

RNA expression profiles and regulatory networks in human right ventricular hypertrophy due to high pressure load

iScience, 2021
Summary: Right ventricular hypertrophy (RVH) occurs in high pressure afterload, e.g., tetralogy of Fallot/pulmonary stenosis (TOF/PS). Such RVH is associated with alterations in energy metabolism, neurohormonal and epigenetic dysregulation (e.g ...
Philippe Chouvarine, Joachim Photiadis, Robert Cesnjevar, Jens Scheewe, Ulrike M.M. Bauer, Thomas Pickardt, Hans-Heiner Kramer, Sven Dittrich, Felix Berger, Georg Hansmann   +9 more
doaj   +1 more source

Umbilical catheter placement aided by coronary guidewires

Molecular and Cellular Pediatrics, 2023
Catheterization of the umbilical vessels has proven to be an effective and relatively rapid method for gaining central vascular access in neonates.
Katarzyna Gendera, Stanimir Georgiev, Peter Ewert, Stefan Eckstein, Christoph Fusch, Niels Rochow   +5 more
doaj   +1 more source

Nationwide Registry‐Based Analysis of Infective Endocarditis Risk After Pulmonary Valve Replacement

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022
Background Infective endocarditis (IE) after pulmonary valve replacements in congenital heart disease is a significant concern. This study aimed to identify specific long‐term risk factors for IE after percutaneous pulmonary valve implantation or ...
Clara Stammnitz, Dörte Huscher, Ulrike M. M. Bauer, Aleksandra Urban, Johannes Nordmeyer, Stephan Schubert, Joachim Photiadis, Felix Berger, Sabine Klaassen   +8 more
doaj   +1 more source

Microcephaly is associated with impaired educational development in children with congenital heart disease

Frontiers in Cardiovascular Medicine, 2022
ObjectivesThis study aims to evaluate the school careers of patients with congenital heart disease (CHD) and microcephaly.MethodsAn exploratory online survey was conducted on patients from a previous study on somatic development in children with CHD in ...
Constanze Pfitzer, Constanze Pfitzer, Constanze Pfitzer, Laura K. Sievers, Alina Hütter, Hashim-Abdul Khaliq, Martin Poryo, Felix Berger, Felix Berger, Felix Berger, Ulrike M. M. Bauer, Ulrike M. M. Bauer, Paul C. Helm, Paul C. Helm, Katharina R. L. Schmitt, Katharina R. L. Schmitt   +15 more
doaj   +1 more source

Oxygen Availability in Respiratory Muscles During Exercise in Children Following Fontan Operation

Frontiers in Pediatrics, 2019
Introduction: As survival of previously considered as lethal congenital heart disease forms is the case in our days, issues regarding quality of life including sport and daily activities emerge.
Fabian Stöcker, Rhoia Neidenbach, Celina Fritz, Renate M. Oberhoffer, Peter Ewert, Alfred Hager, Nicole Nagdyman   +6 more
doaj   +1 more source