Search results for "Heart malformation"
showing 9 items of 9 documents
An overview of the molecular mechanisms underlying development and progression of bicuspid aortic valve disease
2019
Bicuspid aortic valve (BAV) is a common congenital heart malformation frequently associated with the development of aortic valve diseases and severe aortopathy, such as aortic dilatation, aneurysm and dissection. To date, different genetic loci have been identified in syndromic and non- syndromic forms of BAV. Among these, genes involved in the regulation of extracellular matrix remodelling, epithelial to mesenchymal transition and nitric oxide metabolism appear to be the main contributors to BAV pathogenesis. However, no- single gene model explains BAV inheritance, suggesting that more factors are simultaneously involved. In this regard, characteristic epigenetic and immunological profiles…
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…
Hypoplasia of the posterior mitral valve leaflet: Don't forget to look beyond the mitral valve.
2020
Hypoplasia of the posterior mitral valve leaflet (PMVL) is a very rare finding in adulthood and can coexist with other congenital heart defects. In this image, a transesophageal echocardiography (TOE) carried out on a 59-year-old woman with a 2-month history of dyspnea revealed a hypoplastic PMVL causing severe mitral regurgitation associated with a secundum-type atrial septal defect (ASD) with left-to-right shunting. This case demonstrates how essential 3-dimensional TOE is for a comprehensive assessment of the mitral valve and to improve the diagnostic accuracy of concomitant congenital heart abnormalities.
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
2019
We recently described a new neurodevelopmental syndrome (TAF1/MRXS33 intellectual disability syndrome) (MIM# 300966) caused by pathogenic variants involving the X-linked gene TAF1, which participates in RNA polymerase II transcription. The initial study reported eleven families, and the syndrome was defined as presenting early in life with hypotonia, facial dysmorphia, and developmental delay that evolved into intellectual disability (ID) and/or autism spectrum disorder (ASD). We have now identified an additional 27 families through a genotype-first approach. Familial segregation analysis, clinical phenotyping, and bioinformatics were capitalized on to assess potential variant pathogenicity…
Redefining the MED13L syndrome
2015
Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficu…
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
2019
Abstract Alazami syndrome (AS) (MIM# 615071 ) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients with AS have been reported. Here we describe two consanguineous Algerian sisters with Alazami PD due to LARP7 homozygous pathogenic variants detected by whole exome sequencing. By comparing these two additional cases with those previously reported, we strengthen the key features of AS: severe growth restriction, severe intellectual disability and some distinguishing facial features such as broad nose, malar hypoplasia, wide mouth, full li…
Are Kawasaki Disease and Pediatric Multi-Inflammatory Syndrome Two Distinct Entities? Results from a Multicenter Survey During SARS-CoV-2 Epidemic in…
2020
Background: There is mounting evidence on the existence of a childhood multi-inflammatory syndrome related to SARS-CoV-2, sharing similarities with Kawasaki Disease (KD). Methods: On April 24th,2020 the Rheumatology Study Group of the Italian Pediatric Society launched a survey to enroll patients diagnosed with KD or KD-like disease. Classification was: 1) classical and incomplete KD, named Kawasaki Disease Group (KDG); 2) KD-like multi-inflammatory syndrome, named KawaCOVID Group (KCG). Demographic, clinical, and laboratory data, treatment information, and patients’ outcome were collected in an online anonymized database (RedCAPO). Chi square test or exact Fisher test and non parametric W…
An Exploratory Look at Bicuspid Aortic Valve (Bav) Aortopathy: Focus on Molecular and Cellular Mechanisms
2019
Bicuspid aortic valve (BAV) is the most common congenital heart malformation. BAV patients are at increased risk for aortic valve disease (stenosis/regurgitation), infective endocarditis, thrombi formation and, in particular, aortic dilatation, aneurysm and dissection. This review aims at exploring the possible interplay among genetics, extracellular matrix remodeling, abnormal signaling pathways, oxidative stress and inflammation in contributing to BAV-associated aortopathy (BAV-A-A). Novel circulating biomarkers have been proposed as diagnostic tools able to improve risk stratification in BAV-A-A. However, to date, the precise molecular and cellular mechanisms that lead to BAV-A-A remain …
Congenitally corrected transposition of great vessels: MRI and echocardiographic appearance
1995
This paper presents the case of a 36-year-old male with congenitally corrected transposition of great vessels (CTGV). This is a rare cardiac anomaly characterized by atrioventricular and ventriculoarterial discordance, occuriing in less than 1% of all congenital heart diseases. This was diagnosed by echocardiography and MRI. The MRI findings demonstrated cardiac abnormality.