Results 101 to 110 of about 134,978 (240)
ROBO4 Variants Predispose Individuals to Bicuspid Aortic Valve and Thoracic Aortic Aneurysm
Bicuspid aortic valve (BAV) is a common congenital heart defect (population incidence, 1–2%)1–3 that frequently presents with ascending aortic aneurysm (AscAA)4.
Russell A. Gould +50 more
semanticscholar +1 more source
Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve [PDF]
Steven Grant Carlisle +23 more
openalex +1 more source
Background Transcatheter aortic valve implantation (TAVI) is the standard treatment for high-risk patients with aortic stenosis (AS); however, alternative treatments for patients who are ineligible for TAVI are controversial.
Kenji Iino +3 more
doaj +1 more source
First LDLRAP1 and Recurrent LDLR Mutations in Tunisian Families With Familial Hypercholesterolemia
ABSTRACT Familial hypercholesterolemia (FH) is a genetic disorder characterised by elevated plasma LDL‐cholesterol, predisposing to premature atherosclerotic cardiovascular disease. Most cases follow an autosomal dominant pattern (ADH) caused by pathogenic variants in LDLR, APOB or PCSK9.
Wirath Ben Ncir +9 more
wiley +1 more source
An aortic root abscess in a patient with a bicuspid aortic valve: a case report [PDF]
Elyse Balzan, Alexander Borg
openalex +1 more source
Bicuspid Aortic Valve: An Unusual Cause of Aneurysm of Left Coronary Sinus of Valsalva
Bicuspid aortic valve is traditionally considered an innocuous congenital anomaly. Due to a better and widespread availability of non-invasive imaging techniques, it has come to the fore that 30% of these cases develop complications, viz., valve ...
Euden Bhutia +4 more
doaj
Bicuspid aortic valve endocarditis caused by Gemella sanguinis: Case report and literature review
Gemella species are catalase-negative, facultative anaerobic, Gram-positive cocci, which are part of the human oral microbiome and may occasionally cause systemic infections.
Sofia Maraki +6 more
doaj +1 more source
Abstract Blunt traumatic aortic injury (BTAI) is severe, often fatal in younger populations due to high‐energy deceleration mechanisms. Thoracic endovascular aortic repair (TEVAR) has revolutionised BTAI treatment, surpassing the previously standard open surgical repair in mortality and complication rates.
Marco David Bokobza De la Rosa +8 more
wiley +1 more source
Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions
Information on the health‐related consequences of rare chromosome disorders is often limited, posing challenges for both patients and their families. The Chromosome 6 Project aims to bridge this knowledge gap for structural aberrations involving chromosome 6 by providing parents of affected children with information on the expected phenotypes of their ...
Eleana Rraku +8 more
wiley +1 more source

