Results 81 to 90 of about 5,408 (223)

Isolated aortic root dilation in homocystinuria [PDF]

, 2017
BACKGROUND: Vascular complications in homocystinuria have been known for many years, but there have been no reports to date on involvement of the ascending aorta.
Davison, JE, Elliott, PM, Guha, N, Kemp, H, Lachmann, R, Lorenzini, M, Murphy, E, Pandya, B, Pitcher, A   +8 more
core   +2 more sources

Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population

Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.
In a populaiton cohort of 350 individuals, actionable P/LP variants were identified in 12 individuals (3.4%) across autosomal dominant genes. ABSTRACT Background The identification of actionable secondary findings (SFs) through clinical exome sequencing has become increasingly relevant with the integration of genomics into routine healthcare.
Laura Grech, Celine Ann Grech, Jasmine Spiteri, Dillon Mintoff, Nikolai Paul Pace   +4 more
wiley   +1 more source

Presenilin-1 in smooth muscle cells facilitates hypermuscularization in elastin aortopathy

iScience
Summary: Smooth muscle cell (SMC) accumulation is central to the pathogenesis of elastin-defective arterial diseases, including supravalvular aortic stenosis (SVAS).
Junichi Saito, Jui M. Dave, Freddy Duarte Lau, Daniel M. Greif   +3 more
doaj   +1 more source

Society for Maternal‐Fetal Medicine Consult Series #73: Diagnosis and management of right and left heart failure during pregnancy and postpartum

Pregnancy, Volume 1, Issue 5, September 2025.
Abstract Heart failure is a major contributor to maternal morbidity and mortality. Pregnancy is a state of hemodynamic stress, and normal physiologic changes of pregnancy may mimic signs of heart failure. Prepregnancy counseling, multidisciplinary care, and referral to a center with expertise in managing pregnant patients with heart failure can help ...
Society for Maternal‐Fetal Medicine (SMFM), Afshan B. Hameed, Ernesto Licon, Arthur Jason Vaught, Raj Shree, SMFM Publications Committee   +5 more
wiley   +1 more source

Characteristics of Carotid Artery Structure and Mechanical Function and Their Relationships with Aortopathy in Patients with Bicuspid Aortic Valves

Frontiers in Physiology, 2017
Patients with a bicuspid aortic valve (BAV) often have proximal aortic dilatation and systemic vascular dysfunction. We hypothesized that BAV patients would have different carotid artery structural and functional characteristics compared to tricuspid ...
Mihyun Kim, Chi Young Shim, Seong-Chan You, In-Jeong Cho, Geu-Ru Hong, Jong-Won Ha, Namsik Chung   +6 more
doaj   +1 more source

Evaluation of 4D Flow MRI‐Derived Aortic Hemodynamics and Their Relationships With Left Ventricular Remodeling in Patients With Moderate Aortic Stenosis: A Preliminary Study

Echocardiography, Volume 42, Issue 9, September 2025.
Patients with moderate AS exhibited various 4D flow MRI‐derived aortic hemodynamic profiles despite having similar mean pressure gradient. Peak turbulent kinetic energy (TKE) significantly correlated with LV volumes, mass, and native T1 value. Our study revealed heterogeneity of aortic hemodynamics and their impact on LV myocardium in patients with ...
Jeong‐Eun Yi, Sungho Park, Osung Kwon, Dongyeop Han, Hyungkyu Huh, Bae Young Lee   +5 more
wiley   +1 more source

The influence of bicuspid aortic valves on the dynamic pressure distribution in the ascending aorta: a porcine ex vivo model † [PDF]

, 2017
OBJECTIVES The aim of the study was to simulate the effect of different bicuspid aortic valve configurations on the dynamic pressure distribution in the ascending aorta. METHODS Aortic specimens were harvested from adult domestic pigs.
Aigner, Philipp, Czerny, Martin, Dziodzio, Tomasz, Fechtig, Daniel, Gschlad, Verena, Juraszek, Andrzej, Schima, Heinrich, Stoiber, Martin   +7 more
core  

Epidermolysis bullosa for primary care providers: A practical review

Journal of General and Family Medicine, Volume 26, Issue 4, Page 279-291, July 2025.
Abstract Epidermolysis bullosa (EB) is a group of genetic skin diseases, which manifest as fragile skin and blistering in addition to many extracutaneous conditions. Pediatricians and primary care providers play an integral role in managing these patients with multifaceted care needs.
Kennedy Sparling, Judith O'Haver, Muayad Shahin, Amanda Damon, Nichole Halliburton, Kellie Badger, Mariam Iqneibi, Beth Moeves, Harper N. Price, Emily S. Gorell   +9 more
wiley   +1 more source

A missense TGFB2 variant p.(Arg320Cys) causes a paradoxical and striking increase in aortic TGFB1/2 expression. [PDF]

, 2016
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder with a range of cardiovascular, skeletal, craniofacial and cutaneous manifestations.
AM Bertoli-Avella, BL Loeys, BL Loeys, C Boileau, Doris Rassl, G MacCarrick, Ian Wilkinson, IM van de Laar, JA Jones, Kevin M O’Shaughnessy, M Gago-Diaz, M Horiguchi, M Renard, M Ritelli, ME Lindsay, ME Lindsay, Nikki Figg, R Leutermann, Raya Al Maskari, RJ Akhurst, S Cleary, Sarju Mehta, Yasmin,   +22 more
core   +1 more source

Comparison of Efficacy and Safety of Transcatheter Aortic Valve Implantation in Patients With Bicuspid Versus Tricuspid Aortic Valves [PDF]

, 2017
Bicuspid aortic valve (BAV) stenosis has been considered a contraindication to transcatheter aortic valve implantation (TAVI). The aim of this study is to compare the efficacy and safety of TAVI in patients with BAV with those with tricuspid aortic valve
Cedars, A., Grayburn, P. A., Mack, M. J., Sannino, A., Stoler, R. C., Szerlip, M.   +5 more
core   +1 more source