Results 61 to 70 of about 73,611 (316)

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

Scimitar syndrome with large atrial septal defect and a rare partial anomalous venous drainage in an adult: a case report [PDF]

, 2023
T. Samarawickrama, Namal Wijesinghe, Subash Karunarathna, Anjali Biyanwila   +3 more
openalex   +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

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

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

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, Grech, Victor E., Mercieca, Victor   +2 more
core  

Interatrial shunt devices for heart failure with normal ejection fraction: a technology update [PDF]

, 2017
Heart failure with normal ejection fraction (HeFNEF) accounts for ~50% of heart failure admissions. Its pathophysiology and diagnostic criteria are yet to be defined clearly which may hinder the search for effective treatments.
Clark, Andrew L., Cuthbert, Joseph J., Pellicori, Pierpaolo   +2 more
core   +3 more sources

Iatrogenic Atrial Septal Defect After MitraClip Transcatheter Edge-to-Edge Repair: To Close or Not to Close? [PDF]

Texas Heart Institute Journal
The evolution of percutaneous procedures that use transseptal puncture to treat left-sided structural heart disease has led to the emergence of iatrogenic atrial septal defects as a potential complication.
Mariem Abdelsalam, MD, Raghad Younus, MD, Lamis F. Abdalla, MD, Abdelkader Almanfi, MD   +3 more
doaj   +1 more source