Results 51 to 60 of about 2,203,451 (295)

Transcatheter closure of Ventricular Septal defects in Malta : initial experience [PDF]

, 2005
Ventricular septal defects (VSD) consist of deficiencies of the wall separating the two ventricles. VSDs are the commonest congenital cardiac defects. Small VSDs rarely require intervention, however, larger defects cause ventricular volume overload with ...
Aquilina, Oscar, DeGiovanni, Joseph V., Manche, Alexander, Magic, Jadran, Grech, Victor E., Formosa Gouder, Mireille, Fenech, Albert   +6 more
core  

Safety and Efficacy of Right Axillary Thoracotomy for Repair of Congenital Heart Defects in Children

, 2023
BACKGROUND: Minimally invasive repair of congenital heart defects in children has not gained wide popularity yet compared to minimally invasive approaches in adults. We sought to review our experience with this approach in children.
Kumar, Sacha, Kloesel, Benjamin, Salem, Mahmoud I., McCarthy, Christina M, Salem, Mahmoud I, Greathouse, Kristin C., Said, Sameh M, Sainathan, Sandeep, Brown, Nicholas, Greathouse, Kristin C, McCarthy, Christina M., Said, Sameh M.   +11 more
core   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Bridging clinical care and lived experience: early implementation of longitudinal health-related quality of life monitoring in congenital heart disease

Frontiers in Pediatrics
BackgroundCongenital heart defects (CHD) are the most common congenital malformations, and, although survival rates now exceed 90%, children remain at risk for long-term psychomotor, cognitive, and psychosocial difficulties.
Jana Willems, Philipp A. Müller, Anna Erbers, Franziska Renninger, Alina Stricker, Vera König, Rouven Kubicki, Hannah E. Kappler, Alexej Bobrowski, Brigitte Stiller, Christoph Zürn   +10 more
doaj   +1 more source

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

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Transcatheter closure of patent ductus arteriosus in infants weighing less than 6 kilograms – a two-center experience. Technical considerations

Cardiology Journal
BACKGROUND: Transcatheter closure has become the method of choice for treating patent ductus arteriosus (PDA) in a majority of patients. The only approved device for treating infants weighing less than 6 kilograms is the Amplatzer Piccolo Occluder (APO).
Michał Gałeczka, Michał Kapałka, Maciej Chojnicki, Michał Krawiec, Filip Tyc, Roland Fiszer   +5 more
doaj   +1 more source

Quality of life in children with infrequent congenital heart defects: cohort study with one-year of follow-up

Health and Quality of Life Outcomes, 2020
Background The evidence regarding patient related outcomes in children with infrequent congenital heart defects (I-CHD) is very limited. We sought to measure quality of life (QoL) in children with I-CHD, and secondarily, to describe QoL changes after one-
Karen Moreno-Medina, Magally Barrera-Castañeda, Catalina Vargas-Acevedo, Alberto E. García-Torres, Miguel Ronderos, Manuel Huertas-Quiñones, Silvana Cabrera, María Teresa Domínguez, Nestor Sandoval Reyes, Rodolfo J. Dennis   +9 more
doaj   +1 more source