Results 91 to 100 of about 2,203,163 (196)

Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome) [PDF]

, 2005
Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities. CHD is present
Marino, Bonnie, Capolino, Rossella, Digilio, Maria Cristina, Dallapiccola, B.   +3 more
core  

Chances of Employment in a Population of Women and Men after Surgery of Congenital Heart Disease: Gender-Specific Comparisons between Patients and the General Population [PDF]

It was examined whether women and men (17-45 years) with operated congenital heart disease (CHD) differ with respect to chances of employment. Patients were compared with the general population.
Kambiz Norozi, Siegfried Geyer, Armin Wessel, Reiner Buchhorn   +3 more
core  

Contribution of hypoxia-inducible factor 1alpha to pathogenesis of sarcomeric hypertrophic cardiomyopathy

Scientific Reports
Hypertrophic cardiomyopathy (HCM) caused by autosomal-dominant mutations in genes coding for structural sarcomeric proteins, is the most common inherited heart disease.
Sarala Raj Murthi, Andreas Petry, Bachuki Shashikadze, Jan B. Stöckl, Manuel Schmid, Gianluca Santamaria, Karin Klingel, Damir Kračun, Xinpei Chen, Sabine Bauer, Joachim P. Schmitt, Florian Flenkenthaler, Josh Gorham, Christopher N. Toepfer, David Potěšil, Pavel Hruška, Zbyněk Zdráhal, Zsuzsanna Mayer, Mathieu Klop, Luisa Lehmann, Yishi Qin, Laura Papanakli, Nadine Spielmann, Alessandra Moretti, Thomas Fröhlich, Peter Ewert, Stefan Holdenrieder, Jonathan G. Seidman, Christine E. Seidman, Agnes Görlach, Cordula M. Wolf   +30 more
doaj   +1 more source

Juxtaposition of the atrial appendages in a patient with a simple ventricular septal defectCentral Message

JTCVS Techniques, 2021
Julie Cleuziou, MD, PhD, MBA, Jakob Kemmer, MD, Ursula Sauer, MD, Milka Pringsheim, MD   +3 more
doaj   +1 more source

Over 3,000 Minimally Invasive Thoracotomies From the European Congenital Heart Surgeons Association for Quality Repairs of the Most Common Congenital Heart Defects: Safe and Routine for Selected Repairs.

Background: Minimally invasive thoracotomies to repair selected congenital heart defects are considered only a cosmetic alternative approach by many; however, they represent the routine alternative in centers of expertise.MethodsPooled institutional data
Tobota, Zdzislaw, Kundt, Vincent, Kozhokar, Dmytro, Rüffer, Andre, Dodge-Khatami, Ali, Poncelet, Alain, Gil-Jaurena, Juan-Miguel, Siepe, Matthias, Dave, Hitendu H, Hörer, Jürgen, Kadner, Alexander, Sekelyk, Roman, Padalino, Massimo, Vida, Vladimiro, Jacobs, Jeffrey P, Giamberti, Alessandro, Cesnjevar, Robert A, Rubay, Jean, Yemets, Illya, Cleuziou, Julie, Arrigoni, Sara C, de Beco, Geoffroy, Said, Sameh M, Heinisch, Paul Philipp, Rito, Mauro Lo   +24 more
core   +1 more source

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

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   +1 more source

Epidemiology of congenital heart defects in France from 2013 to 2022 using the PMSI-MCO (French Medical Information System Program in Medicine, Surgery, and Obstetrics) database.

PLoS ONE
BackgroundCongenital heart defects are common and occur in approximately 0.9% of births. In France, the registries cover approximately 20% of the population but not the entirety of France; therefore, we aimed to update the incidence data for congenital ...
Gurvan Bourdon, Xavier Lenne, François Godart, Laurent Storme, Didier Theis, Damien Subtil, Amelie Bruandet, Thameur Rakza   +7 more
doaj   +1 more source

Provincial variability in congenital heart disease prevalence in Argentina, 2014-2019: A population-based analysis from national registry data.

PLOS Global Public Health
Congenital heart defects are a leading cause of neonatal morbidity and mortality worldwide. Early diagnosis is essential to enable timely treatment and improve patient outcomes; however, access to early detection and specialized care is unevenly ...
María Clara Vita, Nicolás Fantozzi, Federico Méndez Ortiz, Ludmila Di Lullo, Romina Kokal, Simbad Peralta, Sandra Di Lalla   +6 more
doaj   +1 more source

Anomalous right coronary artery arising from the pulmonary artery (ARCAPA): an incidental diagnosis in a 3-year-old girl

Pediatrics and Neonatology
Anna Wałdoch, Radosław Jaworski
doaj   +1 more source

Congenital heart defects - diagnosis and treatment. [PDF]

Sci Rep
Kass RS, Villemain O, Ye L.
europepmc   +1 more source