Results 31 to 40 of about 2,073,380 (162)

Genetic Insights into Congenital Cardiac Septal Defects—A Narrative Review

Biology
Congenital heart diseases (CHDs) are a group of complex diseases characterized by structural and functional malformations during development in the human heart; they represent an important problem for public health worldwide.
Jorge L. Cervantes-Salazar, Nonanzit Pérez-Hernández, Juan Calderón-Colmenero, José Manuel Rodríguez-Pérez, María G. González-Pacheco, Clara Villamil-Castañeda, Angel A. Rosas-Tlaque, Diego B. Ortega-Zhindón   +7 more
doaj   +1 more source

Spontaneous resolution of atrial and ventricular septal defects in Malta [PDF]

, 1998
Congenital heart disease (CHD) is the commonest congenital malformation, and ventricular septal defect (VSD) and atrial septal defect (ASD) are the commonest forms of CHD.
Bailey, Mark, Mercieca, Victor, Grech, Victor E.   +2 more
core  

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

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers

Journal of the American Heart Association, EarlyView., 2021
Background Impaired myocardial blood flow (MBF) in the absence of epicardial coronary disease is a feature of hypertrophic cardiomyopathy (HCM). Although most evident in hypertrophied or scarred segments, reduced MBF can occur in apparently normal segments.
Rebecca K. Hughes, Claudia Camaioni, João B. Augusto, Kristopher Knott, Ellie Quinn, Gabriella Captur, Andreas Seraphim, George Joy, Petros Syrris, Perry M. Elliott, Saidi Mohiddin, Peter Kellman, Hui Xue, Luis R. Lopes, James C. Moon   +14 more
wiley   +1 more source

Incidence and Types of Congenital Heart Diseases among Children in Sulaimani Governorate

Kurdistan Journal of Applied Research, 2017
Congenital heart diseases (CHD) are common causes of cardiovascular morbidity and mortality among young children and adolescents. It is the most common form of structural congenital defects.
Niaz Kamal, Nasih Othman, Aso Salih
doaj   +1 more source

Self- and proxy-reported impaired social interaction in young adults with simple congenital heart defects

Frontiers in Pediatrics, 2023
BackgroundSimple Congenital Heart Defects such as septal defects constitute a large proportion of Congenital Heart Defects. New research has demonstrated more co-morbidities than previously thought. In particular, co-morbidities involving neurocognitive,
Sara Hirani Lau-Jensen, Sara Hirani Lau-Jensen, Benjamin Asschenfeldt, Lars Evald, Vibeke E. Hjortdal, Vibeke E. Hjortdal   +5 more
doaj   +1 more source

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  

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

Amplatzer device closure of an inferior venosus atrial septal defect after surgical closure of a secundum atrial septal defect [PDF]

, 2004
This article presents a patient who had transcatheter closure of a low atrial septal defect which was overlooked during surgical closure of a secundum atrial septal defect.
DeGiovanni, Joseph V., Grech, Victor E., Falzon, A.   +2 more
core  

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source