Results 41 to 50 of about 48,225 (279)

Arrhythmic Risk and Treatment after Transcatheter Atrial Septal Defect Closure [PDF]

, 2023
Silvia Deaconu, Alexandru Deaconu, Gabriela Marascu, Mihaela Octavia Stanculescu, Dragoș Cozma, Eliza Cinteză, Radu Vătăşescu   +6 more
openalex   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Transjugular closure of a two-hole atrial septal defect in a child with iliac vein thrombosis

Annals of Pediatric Cardiology, 2013
The internal jugular vein is not a typical vascular access line during the percutaneous closure of an atrial septal defect. We report the closure of a double atrial septal defect with a single device, using a transjugular venous approach, in a child with
Osman Baspinar, Khaleel Ibrahim Al-Hadidy, Mehmet Kervancioglu   +2 more
doaj   +1 more source

Serum soluble suppression of tumorigenicity-2 level associates with severity of pulmonary hypertension associated with uncorrected atrial septal defect

Pulmonary Circulation, 2020
Uncorrected atrial septal defect undergoes right ventricle chronic volume overload which may lead to pulmonary hypertension and Eisenmenger Syndrome. The soluble suppression of tumorigenicity-2 is a left ventricle strain biomarker; however, its role in ...
Reza S. Pratama, Anggoro B. Hartopo, Dyah W. Anggrahini, Vera C. Dewanto, Lucia K. Dinarti   +4 more
doaj   +1 more source

3-Dimensional Modeling Guided Transcatheter Repair of Dehisced Pulmonary Venous Baffle With Gore ASD Device

JACC: Case Reports, 2023
A 38-year-old woman with sinus venosus atrial septal defect and partial anomalous return of the right upper pulmonary vein underwent a Warden procedure but experienced a large residual defect after patch dehiscence.
Analise Sulentic, BS, Mudit Gupta, MD, PhD, Silvani Amin, BA, Yan Wang, RDDS, Danish Vaiyani, MD, Patricia Sabin, MS, Sara L. Partington, MD, Matthew J. Gillespie, MD, Matthew A. Jolley, MD   +8 more
doaj   +1 more source

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Identification and Morphogenesis of Vestibular Atrial Septal Defects

Journal of Cardiovascular Development and Disease, 2020
Background: The vestibular atrial septal defect is an interatrial communication located in the antero-inferior portion of the atrial septum. Reflecting either inadequate muscularization of the vestibular spine and mesenchymal cap during development, or ...
Rohit S. Loomba, Justin T. Tretter, Timothy J. Mohun, Robert H. Anderson, Scott Kramer, Diane E. Spicer   +5 more
doaj   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Rare case of bacterial endocarditis associated with ostium secundum atrial septal defect

Heart India, 2019
Aortic valve disease and ventricular septal defects are common lesions to be associated with Infective Endocarditis. However atrial septal defect is rarely associated with infective endocarditis, due to shunting taking place between low pressure ...
Rahul Singla, Nagesh Waghmare, Vikas Mishra, Anil Kumar, N O Bansal   +4 more
doaj   +1 more source