Results 71 to 80 of about 107,561 (313)

Holography-guided procedural planning for modifying Venus P-valve implantation technique in patients with left pulmonary artery stents: a case-series

Frontiers in Cardiovascular Medicine
BackgroundVenus P-valve™ (Venus Medtech, Hangzhou, China) is a self-expandable bioprosthetic valve that can be transcatheter-implanted in native right ventricular outflow tract (RVOT) patients. Valve implantation is technically challenging.
Angelo Fabio d’Aiello, Laura Schianchi, Francesca Bevilacqua, Paolo Ferrero, Angelo Micheletti, Diana Gabriela Negura, Giulia Pasqualin, Massimo Chessa, Massimo Chessa   +8 more
doaj   +1 more source

Imaging congenital heart disease in adults [PDF]

The British Journal of Radiology, 2011
Transthoracic echocardiography is the first-line modality for cardiovascular imaging in adults with congenital heart disease (ACHD). The windows of access that are possible with transthoracic echocardiography are, however, rarely adequate for all regions of interest.
openaire   +2 more sources

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

Non-invasive cardiac output monitoring (NICOM) in adult congenital heart disease patients with Fontan palliation

, 2021
Rationale Fontan palliation for single ventricle malformations is an increasingly common reason for heart failure in the adult population. Cardiac output (CO) measurement in Fontan physiology is achieved by invasive cardiac catheterization (RHC ...
Kay, W. Aaron, Hoyer, Mark, Ephrem, Georges, Quain, Angela   +3 more
core   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +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

Knowledge-based 3D reconstruction of the right ventricle : comparison with cardiac magnetic resonance in adults with congenital heart disease

, 2015
AIM: Assessment of right ventricular (RV) function is a challenge, especially in patients with congenital heart disease (CHD). The aim of the present study is to assess whether knowledge-based RV reconstruction, used in the everyday practice of an echo ...
Sieswerda, Gertjan Tj,, Meijboom, Folkert, Meijboom, Folkert,, Wallby, Lars, Driessen, Mieke, Sieswerda, Gertjan Tj, Swahn, Eva,, Driessen, Mieke,, Trzebiatowska-Krzynska, Aleksandra, Sieswerda, GT, Swahn, Eva, Wallby, Lars,, Trzebiatowska-Krzynska, Aleksandra,   +12 more
core   +1 more source

Changes in the Cath Lab in the Treatment of Adult Patients with Congenital Heart Disease: A 12-Year Experience in a Single Referral Center with the Establishment of a Dedicated Working Group

, 2023
Background: Adults with congenital heart disease (ACHD) are a growing population needing ongoing care. The aim of this study was to investigate if a dedicated ACHD team impacted the timing and indication of invasive cardiology procedures in these ...
Francesca Fanisio, Elettra Pomiato, Maria Giulia Gagliardi, Massimiliano Raponi, Paolo Guccione, Rosaria Barracano, Lorenzo Galletti, Rosalinda Palmieri, Roberto Formigari, Mario Panebianco, Marco Alfonso Perrone   +10 more
core   +1 more source

Coronavirus disease 2019 in patients with Fontan circulation

International Journal of Cardiology Congenital Heart Disease, 2021
Flavia Fusco, Giancarlo Scognamiglio, Assunta Merola, Michela Palma, Anna Correra, Nunzia Borrelli, Rosaria Barracano, Nicola Grimaldi, Diego Colonna, Emanuele Romeo, Berardo Sarubbi   +10 more
doaj   +1 more source