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
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
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.
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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
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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
Familial hypercholesterolemia supravalvular aortic stenosis and extensive atherosclerosis
Indian Heart Journal, 2018 Familial hypercholesterolemia is an autosomally dominant disorder caused by various mutations in low-density lipoprotein receptor genes. This can lead to premature coronary atherosclerosis and cardiac-related death.
Rajpal Prajapati, Vikas Agrawal
doaj
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
An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 Polymorphism [PDF]
, 2009 Cutis laxa (CL) is a heterogeneous group of connective tissue disorders characterized by loose, sagging skin and variable involvement of other organs.
Cure, Susan +9 more
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Description of the children with aortic stenosis at the Chris Hani Baragwanath Academic Hospital over 20 years [PDF]
, 2017 A research report submitted to the Faculty of Health Sciences, University of the Witwatersrand Johannesburg, in fulfilment of the requirements for the degree of Master of Medicine (Med) in the branch of Paediatrics.
Mendes, Jacqueline Faria
core
Genetic and Developmental Basis of Cardiovascular Malformations [PDF]
, 2016 Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1% to 5% of all live births. Genetic, epigenetic, and environmental factors all influence the development of CVMs, and an improved understanding of the causation of CVMs ...
Azhar, Mohamad, Ware, Stephanie M.
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