Search results for "Heart Defects"
showing 10 items of 57 documents
Anomalías congénitas cardíacas en la Comunitat Valenciana 2007-2014, el registro poblacional de anomalías congénitas
2020
Resumen: Introducción: Las anomalías congénitas cardíacas (ACC) son el tipo de anomalías congénitas (AC) mayores de más prevalencia y gravedad. El objetivo fue determinar la frecuencia y distribución de las ACC en la Comunitat Valenciana desde 2007 hasta 2014, describiendo las características comunes de los pacientes y sus madres. Material y Métodos: Se seleccionaron del Registro poblacional de AC de la Comunitat Valenciana los pacientes con ACC nacidos vivos, nacidos muertos e interrupciones voluntarias del embarazo entre 2007-2014 (códigos Q20-Q26 de la Clasificación Internacional de Enfermedades 10.ª Revisión, Asociación Pediátrica Británica). Se calculó la prevalencia por 10.000 nacidos…
What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs
2020
Abstract Background Syndromic congenital heart disease accounts for 30% of cases and can be determined by genetic, environmental or multifactorial causes. In many cases the etiology remains uncertain. Many known genes are responsible for specific morphopathogenetic mechanisms during the development of the heart whose alteration can determine specific phenotypes of cardiac malformations. Case presentation We report on two cases of association of conotruncal heart defect with facial dysmorphisms in sibs. In both cases the malformations’ identification occurred by ultrasound in the prenatal period. It was followed by prenatal invasive diagnosis. The genetic analysis revealed no rearrangements …
Chronic inflammation: A key role in degeneration of bicuspid aortic valve.
2019
Abstract Introduction Bicuspid aortic valve (BAV) is the most common congenital valvular heart defect resulting from abnormal aortic cusp formation during heart development, where two of the three normal and equal sized cusps fuse into a single large cusp resulting in a two cusps aortic valve. Over the past years, much interest has been given in understanding the pathogenesis of BAV and its complications. In this review, we focused on the role of inflammation, involved in the degeneration of BAV and the development of its complications. Role of inflammation From a pathophysiological point of view, BAV may rapidly progress into aortic stenosis (AS) and is related to aortopathy. Several histo…
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
2016
Item does not contain fulltext Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype. To date, only one patient has been reported with a de novo variant in PUF60 that probably affects function (c.505C>T leading to p.(His169Tyr)) associated wi…
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field
2016
International audience; The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification (MLPA) P311 Kit was setup on the proband of 154 families with at least two cases of non-syndromic CHD. Additionally, ELN screening was performed on families with supravalvula…
Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA G…
2020
Background: Congenital heart defects (CHDs) are present in about 40&ndash
In Vivo Cardiotoxicity Induced by Sodium Aescinate in Zebrafish Larvae
2016
Sodium aescinate (SA) is a widely-applied triterpene saponin product derived from horse chestnut seeds, possessing vasoactive and organ-protective activities with oral or injection administration in the clinic. To date, no toxicity or adverse events in SA have been reported, by using routine models (in vivo or in vitro), which are insufficient to predict all aspects of its pharmacological and toxicological actions. In this study, taking advantage of transparent zebrafish larvae (Danio rerio), we evaluated cardiovascular toxicity of SA at doses of 1/10 MNLC, 1/3 MNLC, MNLC and LC10 by yolk sac microinjection. The qualitative and quantitative cardiotoxicity in zebrafish was assessed at 48 h p…
Effect of aneurysm on the mechanical dissection properties of the human ascending thoracic aorta
2012
Objectives: The acute dissection of an ascending thoracic aortic aneurysm (ATAA) represents a devastating separation of elastic layers occurring when the hemodynamic loads on the diseased wall exceed the adhesive strength between layers. At present, the mechanics underlying aortic dissection are largely unclear, and the biomechanical delamination properties of the aneurysmal aorta are not defined. Individuals with bicuspid aortic valve (BAV) are particularly predisposed to ascending aortic aneurysm formation, with a marked risk of aortic dissection. The purpose of this study was to evaluate and compare the dissection properties of nonaneurysmal and aneurysmal human ascending thoracic aorta …
Cardiac Magnetic Resonance with Delayed Enhancement of the Right Ventricle in patients with Left Ventricle primary involvement: diagnosis and evaluat…
2020
: Cardiac Magnetic Resonance (CMR) allows an accurate Right Ventricle (RV) assessment that could be of great relevance in diseases causing inflammation or fibrosis. The aim of this study was to evaluate the concomitant involvement of the RV in patients with delayed enhancement (DE) of the Left Ventricle (LV-DE) using CMR. We retrospectively enrolled 95 (male n. 66; age 55±18years; BMI 26±5kg/m2) consecutive patients with LV-DE who underwent a CMR (Achieva 1.5 T, Philips) for different indications: post-ischemic dilated cardiopathy (PDM), hypertrophic cardiomyopathy (HCM), myocardial infarction (MI), myocarditis/pericarditis (MP) and congenital heart disease (CD). We assessed the presence an…
Supraventricular arrhythmias in noncompaction of left ventricle: Is this a frequent complication?
2008
Background: Isolated left ventricular noncompaction is the result of incomplete myocardial morphogenesis, leading to persistence of the embryonic myocardium. The condition is recognised by an excessively prominent trabecular meshwork and deep intertrabecular recesses of the left ventricle. Whether these intertrabecular recesses are a favorable substrate for supraventricular arrhythmias is unclear, even if the incidence of chronic heart failure seems to be high. Results: We evaluated a continuous series of 238 patients affected by noncompaction. In 4 cases the patients reported palpitations and in 4 an episode of syncope. Periodic holter monitoring was performed every 6 months for 4 years. O…