Case report of sudden death in a child with Williams syndrome following administration of anaesthesia [PDF]
, 2015 Williams syndrome is a neurodevelopmental disorder characterized by distinctive personality traits, facial features (so called “elfin face”) and cardiac abnormalities, of which supravalvular aortic stenosis is the most common lesion found. The cause is a
Dippenaar, JM +2 more
core +1 more source
Human Mutation, Volume 2024, Issue 1, 2024.Recent advancements in the next‐generation sequencing have illuminated the occurrence of multiple genetic diagnoses (MGD). While exome sequencing has provided insights, genome sequencing (GS), the most comprehensive diagnostic tool, remains underexplored for studying MGD prevalence.
Fen Guo +6 more
wiley +1 more source
Surgical intervention for anomalous origin of the left coronary artery from the pulmonary artery: The Tokyo experience [PDF]
, 2001 Background: Few studies after surgical repair of the anomalous origin of the left coronary artery have reported the importance of the mitral annuloplasty or the long-term results.
Aoki, Mitsuru +4 more
core +1 more source
Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report
BMC Pediatrics, 2023 Background Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa ...
Hua-yong Zhang, Min Xiao, Yong Zhang
doaj +1 more source
Detecting Heart Disease from Multi-View Ultrasound Images via Supervised Attention Multiple Instance Learning [PDF]
MLHC 2023, 2023 Aortic stenosis (AS) is a degenerative valve condition that causes substantial morbidity and mortality. This condition is under-diagnosed and under-treated. In clinical practice, AS is diagnosed with expert review of transthoracic echocardiography, which produces dozens of ultrasound images of the heart.
arxiv
Progress of Congenital Heart Disease: The Team Approach as It Includes the Anesthesiologist [PDF]
, 1972 Advances in cardiac surgery have been great in the last 30 years, but further progress is anticipated, especially in infants. A cooperative effort involving referring physicians, pediatric cardiologists, physiologists, anesthesiologists, surgeons, and ...
McCue, Carolyn M.
core +1 more source
Supravalvular aortic stenosis surgical repair using modified Sousa's technique [PDF]
, 2010 Relato de uma paciente de sete anos apresentando progressiva intolerância ao esforço. A criança apresentava taquicardia e sopro pansistólico de maior intensidade no foco aórtico.
BONINI, Rômulo César Arnal +3 more
core +3 more sources
A coupling strategy for a 3D-1D model of the cardiovascular system to study the effects of pulse wave propagation on cardiac function [PDF]
arXiv, 2021 The impact of increased stiffness and pulsatile load on the circulation and their influence on heart performance have been documented not only for cardiovascular events but also for ventricular dysfunctions. For this reason, computer models of cardiac electromechanics (EM) have to integrate effects of the circulatory system on heart function to be ...
arxiv
SUPRAVALVULAR AORTIC STENOSIS ASSSOCIATED WITHAORTIC ANEURYSM
Japanese Circulation Journal, 1971 A 32-year-old female patient had supravalvular aortic stenosis associated with aortic aneurysm. Supravalvular location of aortic stenosis within this rare combination of lesions has not, as far as we are aware, been reported. From the pathological findings, the nozzle action of stenosis is presumed to be an important causative factor in the growth of ...
SHUNNNOSUKE HANDA +7 more
openaire +4 more sources
The Influence of the Aortic Root Geometry on Flow Characteristics of a Bileaflet Mechanical Heart Valve [PDF]
arXiv, 2018 Bileaflet mechanical heart valves have one of the most successful valve designs for more than 30 years. These valves are often used for aortic valve replacement, where the geometry of the aortic root sinuses may vary due to valvular disease and affect valve performance. Common geometrical sinus changes may be due to valve stenosis and insufficiency. In
arxiv