Results 41 to 50 of about 17,467 (186)

Bicuspid Aortic Valve and Ascending Aortic Aneurysm in a Twin Pregnancy

JACC: Case Reports, 2020
Bicuspid aortic valve with ascending aortic aneurysm is a common condition encountered in pregnancy. There are limited data on how to manage these patients.
Eryn Bryant, MSN, NP-C, Sandra Tsai, MD, MPH, Eleanor Levin, MD, Dominic Fleischman, MD, Jessica Ansari, MD, Michael Fischbein, MD, Katherine Bianco, MD, Abha Khandelwal, MD, MS   +7 more
doaj   +1 more source

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

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

Bicuspid Aortic Valve [PDF]

, 2011
Bicuspid aortic valve (BAV) disease is the most common congenital cardiovascular malformation with prevalence of 1-2% in the human population (Hoffman, 1990; Hoffman & Kaplan, 2002). Current clinical and scientific studies reveal that bicuspid aortic disease is not a simple valve condition.
Blerim Berisha, Xhevdet Krasniqi, Dardan Kocinaj, Ejup Pllana, Masar Gashi   +4 more
openaire   +1 more source

Bicuspid aortic valve

Giornale italiano di cardiologia (2006), 2012
Bicuspid aortic valve (BAV) is the most common congenital heart disease, whose natural history is characterized by the incidence of clinically relevant valvular (stenosis, regurgitation, endocarditis) and/or vascular complications regarding the thoracic aorta (dilation, aneurysm, dissection) and, rarely, intracranial and epiaortic arteries.
Yuranga Weerakkody, Joachim Feger, Arlene Campos   +2 more
openaire   +3 more sources

Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype‐Enriched Turner Syndrome Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome (TS) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with TS who participated in the TS Society of the United States Healthy Heart Project between 2003 and 2023 ...
Dylan Doerner, Matthew R. Johnson, Sara Mansoorshahi, Rakesh Kathiresan, Katelyn Abel, Jonathan G. You, Emilio Quezada, Siddharth K. Prakash   +7 more
wiley   +1 more source

Study of mitral valve in human cadaveric hearts

Heart Views, 2012
Objectives: The mitral valve is a complex structure that is altered by disease states. The classical image of the mitral valve is a bicuspid valve with two leaflets and two papillary muscles.
S A Gunnal, M S Farooqui, R N Wabale
doaj   +1 more source

Complications and Clinical Outcomes Following Modified Endoscopic Denker's With Pyriform Aperture Preservation: A Prospective Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour, Lane Donaldson, Khaled Kashlan, Swapna Vemuri, Jun Jin, John R. Craig   +5 more
wiley   +1 more source

Debate: Severe bicuspid aortic valve stenosis in non-high-risk surgical patients. In favor of surgery

REC: Interventional Cardiology (English Ed.), 2022
QUESTION: What is the prevalence of bicuspid aortic valve in the population currently eligible for surgical aortic valve replacement? ANSWER: The prevalence of bicuspid aortic valve is around 1% to 2% of the population. Somewhere between 27&
Jacobo Silva Guisasola
doaj   +1 more source

Aortic valve disease: Novel animal models for advancing our understanding of the underlying mechanisms

Animal Models and Experimental Medicine, EarlyView.
Due to the complex pathophysiology of aortic valve disease (AVD) and the resulting lack of effective pharmacotherapy, existing animal models are valuable research tools, but each has its own strengths and limitations. This review systematically surveys the major AVD models, compares their induction methods, pathological features, advantages and ...
Liya Hou, Xue Liu, Wangxing Hu, Xianbao Liu, Wei Zhu   +4 more
wiley   +1 more source