Results 91 to 100 of about 403,749 (266)

Changes in waiting time, need for mechanical circulatory support and outcomes in paediatric heart transplant recipients

ESC Heart Failure
Aims Heart transplantation is a well‐established treatment for end‐stage heart failure in paediatric patients, demonstrating excellent long‐term outcomes. Methods This retrospective study analyses 35 years of data on 244 paediatric recipients (
Lisa‐Maria Rosenthal, Annemarie Krauss, Oliver Miera, Friederike Danne, Fatima Lunze, Mi‐Young Cho, Joachim Photiadis, Felix Berger, Katharina Schmitt   +8 more
doaj   +1 more source

Three dimensional rotational angiography imaging of double aortic arch vascular ring [PDF]

, 2013
Three dimensional (3D) rotational angiography is a technique used increasingly for imaging in congenital heart disease. Here the use of this technique for imaging of double aortic arch vascular ring is described and the advantages of this modality. are
Coren, J. S., Coyle, J. C., Ge, Shuping, Mesia, Cesar I., Moulick, Achintya, Patel, Brijesh, Poe, E., Rosenbloom, C., Stevens, R. M., Toib, A.   +9 more
core   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Evaluation of critical congenital heart defects screening using pulse oximetry in the neonatal intensive care unit. [PDF]

, 2017
ObjectiveTo evaluate the implementation of early screening for critical congenital heart defects (CCHDs) in the neonatal intensive care unit (NICU) and potential exclusion of sub-populations from universal screening.Study designProspective evaluation of ...
Allen, D, Assing, E, Axelrod, R, Blau, J, Chandra, S, Cohen, M, Fofah, O, Garg, LF, Giuliano, M, Govindaswami, B, Grazel, R, Hassinger, D, Hudome, S, Jegatheesan, P, Koppel, R, Kumar, P, Lakshminrusimha, S, Lohr, J, McClure, D, Spillane, N, Van Naarden Braun, K   +20 more
core   +2 more sources

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

A simple screening method for determining knowledge of the appropriate levels of activity and risk behaviour in young people with congenital cardiac conditions [PDF]

, 2007
Objective: To assess a novel method for assessing risk and providing advice about activity to children and young people with congenital cardiac disease and their parents. Design and setting: Questionnaire survey in outpatient clinics at a tertiary centre
Kendall, L, Lewin, R, Parsons, J, Sloper, P   +3 more
core   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Prognostic value of right ventricular dyssynchrony in adults with repaired tetralogy of Fallot

Open Heart
Objective Residual sequelae after surgical repair of tetralogy of Fallot (rTOF) affect clinical outcome. We investigated the prognostic impact of right ventricular (RV) dyssynchrony in adults with rTOF years after the surgical repair.Methods Patients ...
Markus Schwerzmann, Matthias Greutmann, Daniel Tobler, Kerstin Wustmann, Andrea Papa, Clement Nussbaumer, Eleni Goulouti, Fabienne Schwitz   +7 more
doaj   +1 more source

Multicenter Validation of the Vasoactive-Ventilation-Renal Score as a Predictor of Prolonged Mechanical Ventilation After Neonatal Cardiac Surgery [PDF]

, 2018
Objectives: We sought to validate the Vasoactive-Ventilation-Renal score, a novel disease severity index, as a predictor of outcome in a multicenter cohort of neonates who underwent cardiac surgery. Design: Retrospective chart review.
Cashen, Katherine, Costello, John M., Gowda, Keshava Murty Narayana, Grimaldi, Lisa M., Mastropietro, Christopher W., Moser, Elizabeth A. S., Piggott, Kurt D., Wilhelm, Michael   +7 more
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source