Results 71 to 80 of about 2,701,090 (280)

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

Medical management of aortic disease [PDF]

Българска кардиология
Drug therapy is a mandatory component of the treatment of patients with acute and chronic aortic syndromes, regardless of the chosen therapeutic approach (surgical, endovascular, or conservative).
E. Dimitrova, D. Kyuchukov
doaj   +3 more sources

Pseudoaneurysm as a Late Complication of Chronic Stanford Type A Intramural Hematoma Requiring Endovascular Repair

JACC: Case Reports, 2020
Aortic intramural hematoma accounts for 5% to 20% of patients with acute aortic syndrome. Endovascular grafts have evolved as minimally invasive alternatives for treatment in some highly selected patients.
Wayne H. Miller, MD, David Hsi, MD, Anna Koulova, MD, Andrey Vavrenyuk, MD, Isaac George, MD, Virendra Patel, MD, Hiroo Takayama, MD   +6 more
doaj   +1 more source

Acute aortic dissection determines the fate of initially untreated aortic segments in Marfan syndrome

, 2013
BACKGROUND: The aim of the current study was to investigate incidence and causes of surgical interventions in primarily nontreated aortic segments after previous aortic repair in patients with Marfan syndrome. METHODS AND RESULTS: Retrospective analysis
Schoenhoff, Florian S, Czerny, Martin, Schönhoff, Florian, Matyas, Gabor, Carrel, Thierry, Roost, Eva, Reineke, David, Steinmann, Beat, Schmidli, Juerg, Reineke, David Christian, Kadner, Alexander, Jungi, Silvan   +11 more
core   +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

Complicated type B aortic dissection in a pregnant woman with Marfan syndrome

Journal of Vascular Surgery Cases and Innovative Techniques
Marfan syndrome is a rare inherited connective tissue disorder that can result in significant morbidity and mortality. We report a case of a 29-year-old pregnant woman presenting with an acute type B aortic dissection.
Mohammad M. Zagzoog, MD, Sean A. Crawford, MD, Jean-Michel Davaine, MD, PhD   +2 more
doaj   +1 more source

Giant cell aortitis masquerading as intramural hematoma

Journal of Vascular Surgery Cases and Innovative Techniques, 2020
Giant cell aortitis is a rare cause of acute aortic syndrome. We describe the cases of two patients who had presented with chest pain, hypertension, and computed tomography angiographic evidence of mural thickening typical of thoracic aortic intramural ...
Melanie F. McCormick, MD, Jing Li, MD, Luke Monteagudo, MD, Parastoo Fazeli, MD, Amy B. Reed, MD, R. James Valentine, MD   +5 more
doaj   +1 more source

Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome) [PDF]

, 2005
Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities. CHD is present
Marino, Bonnie, Capolino, Rossella, Digilio, Maria Cristina, Dallapiccola, B.   +3 more
core  

Acute aortic syndrome: aortic dissection—ascending aortic dissection

, 2018
Aortic dissection, intramural haematoma, and penetrating aortic ulcer can each present as an acute aortic syndrome. If left untreated, acute aortic syndrome carries a high mortality.
Volkmar Falk, Robert Hammerschmidt, Christoph T. Starck   +2 more
core   +1 more source

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