Results 61 to 70 of about 5,255,725 (300)

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

Ascending Aortic Aneurysm Repair Combined with Ozaki Procedure: Our First Experience

Український журнал серцево-судинної хірургії, 2020
Introduction. Aortic valve disease is often combined with the ascending aortic aneurysm. According to a number of authors, the frequency of the diagnosis varies from 9 to 50%, and the condition requires one-stage surgical correction.
A. Gabriyelyan, V. Beleyovych, T. Domansky, O. Beregovoy, S. Romanova, I. Kudlay, S. Chaikovska   +6 more
doaj   +1 more source

Models and Techniques to Study Aortic Valve Calcification in Vitro, ex Vivo and in Vivo. An Overview

Frontiers in Pharmacology, 2022
Aortic valve stenosis secondary to aortic valve calcification is the most common valve disease in the Western world. Calcification is a result of pathological proliferation and osteogenic differentiation of resident valve interstitial cells.
Maria Bogdanova, Arsenii Zabirnyk, Arsenii Zabirnyk, Anna Malashicheva, Daria Semenova, John-Peder Escobar Kvitting, Mari-Liis Kaljusto, Maria del Mar Perez, Anna Kostareva, Anna Kostareva, Kåre-Olav Stensløkken, Gareth J Sullivan, Gareth J Sullivan, Gareth J Sullivan, Gareth J Sullivan, Gareth J Sullivan, Arkady Rutkovskiy, Arkady Rutkovskiy, Jarle Vaage, Jarle Vaage, Jarle Vaage   +20 more
doaj   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 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

A new frontier in aortic valve treatment: surgical & echocardiographic evaluation of the Ozaki procedure

The Cardiothoracic Surgeon
Background Aortic valve disease (AVD) significantly impacts global health, especially in regions where rheumatic heart disease is prevalent. Traditional aortic valve replacement options have limitations, such as the need for lifelong anticoagulation with
Mohamed Ahmed Gabr, Sameh Mostafa Amer, Usama Ali Mohamed Hamza, Mohammed Abdelfattah Sanad   +3 more
doaj   +1 more source

4D flow cardiovascular magnetic resonance for monitoring of aortic valve repair in bicuspid aortic valve disease

Journal of Cardiovascular Magnetic Resonance, 2020
Background Aortic valve repair has become a treatment option for adults with symptomatic bicuspid (BAV) or unicuspid (UAV) aortic valve insufficiency. Our aim was to demonstrate the feasibility of 4D flow cardiovascular magnetic resonance (CMR) to assess
Alexander Lenz, Johannes Petersen, Christoph Riedel, Julius M. Weinrich, Hendrik Kooijman, Bjoern P. Schoennagel, Gerhard Adam, Yskert von Kodolitsch, Hermann Reichenspurner, Evaldas Girdauskas, Peter Bannas   +10 more
doaj   +1 more source

Approach to aortic aortic valve diseases in the elderly

Turk Kardiyoloji Dernegi Arsivi-Archives of the Turkish Society of Cardiology, 2017
Aortic valve diseases are the most common among the valvular heart diseases. Significant increases in the frequency of degenerative aortic sclerosis and aortic stenosis (AS) are observed, particularly with aging of the population and diminished rheumatic heart disease.
Bozkurt, Engin, Ayhan, Huseyin
openaire   +3 more sources

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

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