Results 31 to 40 of about 64,649 (279)

Total anomalous pulmonary vein drainage in a 60-year-old woman diagnosed in an ECG-gated multidetector computed tomography : a case report and review of literature [PDF]

Purpose: Total anomalous pulmonary vein drainage (TAPVD) is a congenital cardiac defect in which there is no connection between pulmonary veins and the left atrium.
Adamczyk, Piotr, Czekajska-Chehab, Elżbieta, Drop, Andrzej, Siek, Elżbieta, Staśkiewicz, Grzegorz, Tomaszewski, Andrzej, Wojtkowska, Agnieszka, Zakościelna, Magdalena   +7 more
core   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Device Closure of Elliptical Atrial Septal Defects: Technical Considerations

Indian Journal of Clinical Cardiology
Background Percutaneous closure of elliptical atrial septal defects remains challenging due to the circular configuration of conventional atrial septal defect occluders, making optimal device sizing difficult.
Gousia Mukhtar, Dinesh Raja, Abbu Varughese, Kavassery Mahadevan Krishnamoorthy, Arun Gopalakrishnan   +4 more
doaj   +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

Transcatheter closure for decompression sickness with a patent foramen ovale: A case report

Journal of Interventional Medicine, 2021
A patent foramen ovale is one of the predisposing factors of neurotic decompression sickness. Transcatheter closure of a patent foramen ovale is effective in the secondary prevention of decompression sickness associated with intracardiac shunt.
Fenglin Jiang
doaj   +1 more source

The anatomy of interatrial communications - what does the interventionist need to know? [PDF]

Increasingly, the interventional cardiologist is seeking to close interatrial communications by inserting devices by means of catheterisation. So as to optimise these procedures, it is adavantageous to have a firm grasp of the anatomy of the normal ...
Anderson, RH, Martins, JDF
core   +1 more source

Iatrogenic Atrial Septal Defect [PDF]

Circulation: Cardiovascular Interventions, 2016
The number of left atrial transcatheter procedures performed via a transseptal (TS) approach has grown exponentially over the last 2 decades.1 Persistent iatrogenic atrial septal defects (iASD) after structural TS interventions are not uncommon especially when larger TS sheaths are used (25%–50% with 22 Fr sheaths).2–5 The optimal management strategy ...
Mohamad, Alkhouli, Mohammad, Sarraf, David R, Holmes   +2 more
openaire   +2 more sources

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

A soldier's return to duty after minimally invasive correction of complex congenital cardiovascular disease

Clinical Case Reports, 2023
We report a case of incidental detection of severe aortic coarctation, severe secundum atrial septal defect, and bicuspid aortic valve in an active‐duty military service member.
Tarin Phillips, Adam Kisling, Robert Gallagher   +2 more
doaj   +1 more source