Congenital Diverticulum of the Right Ventricle Associated with Coarctation of Aorta, Atrial and Ventricular Septal Defect and Ductus

García, M. Villegas; Martin, Julien; Arcos, Federico Soria; Morena, Gonzalo de la; Chávarri, Mariano Valdés

doi:10.1053/euje.2001.0090

Cited by 6 publications

(3 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Ventricular diverticula can be either muscular or fibrous, and they may or may not be associated with other CHDs, such as ASDs, ventricular septal defects, persistent ductus arteriosus, coarctation of aorta and conduction defects (Villegas Garcia et al. ; Pitol et al. ; Di Sessa et al.…”

Section: Discussionmentioning

confidence: 99%

Cardiac troponin T is necessary for normal development in the embryonic chick heart

et al. 2016

View full text Add to dashboard Cite

The heart is the first functioning organ to develop during embryogenesis. The formation of the heart is a tightly regulated and complex process, and alterations to its development can result in congenital heart defects. Mutations in sarcomeric proteins, such as alpha myosin heavy chain and cardiac alpha actin, have now been associated with congenital heart defects in humans, often with atrial septal defects. However, cardiac troponin T (cTNT encoded by gene TNNT2) has not. Using gene‐specific antisense oligonucleotides, we have investigated the role of cTNT in chick cardiogenesis. TNNT2 is expressed throughout heart development and in the postnatal heart. TNNT2‐morpholino treatment resulted in abnormal atrial septal growth and a reduction in the number of trabeculae in the developing primitive ventricular chamber. External analysis revealed the development of diverticula from the ventricular myocardial wall which showed no evidence of fibrosis and still retained a myocardial phenotype. Sarcomeric assembly appeared normal in these treated hearts. In humans, congenital ventricular diverticulum is a rare condition, which has not yet been genetically associated. However, abnormal haemodynamics is known to cause structural defects in the heart. Further, structural defects, including atrial septal defects and congenital diverticula, have previously been associated with conduction anomalies. Therefore, to provide mechanistic insights into the effect that cTNT knockdown has on the developing heart, quantitative PCR was performed to determine the expression of the shear stress responsive gene NOS3 and the conduction gene TBX3. Both genes were differentially expressed compared to controls. Therefore, a reduction in cTNT in the developing heart results in abnormal atrial septal formation and aberrant ventricular morphogenesis. We hypothesize that alterations to the haemodynamics, indicated by differential NOS3 expression, causes these abnormalities in growth in cTNT knockdown hearts. In addition, the muscular diverticula reported here suggest a novel role for mutations of structural sarcomeric proteins in the pathogenesis of congenital cardiac diverticula. From these studies, we suggest TNNT2 is a gene worthy of screening for those with a congenital heart defect, particularly atrial septal defects and ventricular diverticula.

show abstract

Section: Discussionmentioning

confidence: 99%

Cardiac troponin T is necessary for normal development in the embryonic chick heart

et al. 2016

View full text Add to dashboard Cite

show abstract

“…The remodelled AV valve primordia eventually develop into mature structures with three stratified layers containing different ECM components; atrialis (fibrillin-1, fibrillin-2, fibronectin), spongiosa (perlecan, aggrecan) and fibrosa (collagen type I and III, tenascin) [32], [33]. Each layer has a specified role in withstanding the mechanical load in the heart [32], [33], [34], [35]. With regards the valve leaflets, the septal leaflets of the TV form by delamination from the muscular ventricular septum, whereas the MV septal leaflets form by elongation and protrusion of the cushion mesenchyme into the ventricular lumen [36], [37].…”

Section: Introductionmentioning

confidence: 99%

Effect of altered haemodynamics on the developing mitral valve in chick embryonic heart

Pang

Parnall

Loughna

2017

Journal of Molecular and Cellular Cardiology

View full text Add to dashboard Cite

Intracardiac haemodynamics is crucial for normal cardiogenesis, with recent evidence showing valvulogenesis is haemodynamically dependent and inextricably linked with shear stress. Although valve anomalies have been associated with genetic mutations, often the cause is unknown. However, altered haemodynamics have been suggested as a pathogenic contributor to bicuspid aortic valve disease. Conversely, how abnormal haemodynamics impacts mitral valve development is still poorly understood. In order to analyse altered blood flow, the outflow tract of the chick heart was constricted using a ligature to increase cardiac pressure overload. Outflow tract-banding was performed at HH21, with harvesting at crucial valve development stages (HH26, HH29 and HH35). Although normal valve morphology was found in HH26 outflow tract banded hearts, smaller and dysmorphic mitral valve primordia were seen upon altered haemodynamics in histological and stereological analysis at HH29 and HH35. A decrease in apoptosis, and aberrant expression of a shear stress responsive gene and extracellular matrix markers in the endocardial cushions were seen in the chick HH29 outflow tract banded hearts. In addition, dysregulation of extracellular matrix (ECM) proteins fibrillin-2, type III collagen and tenascin were further demonstrated in more mature primordial mitral valve leaflets at HH35, with a concomitant decrease of ECM cross-linking enzyme, transglutaminase-2. These data provide compelling evidence that normal haemodynamics are a prerequisite for normal mitral valve morphogenesis, and abnormal blood flow could be a contributing factor in mitral valve defects, with differentiation as a possible underlying mechanism.

show abstract

“…The diverticulum protrudes via a narrow connection, and for this reason, diverticula may escape prenatal diagnosis [2] . They may be associated with other congenital cardiac and extracardiac anomalies [3] . It is important to distinguish them from aneurysms that have a large connection and which may have a more significant hemodynamic effect on the fetal heart.…”

Section: Successful Outcome After Prenatal Treatment Of a Cardiac DIVmentioning

confidence: 99%

Successful Outcome after Prenatal Treatment of a Cardiac Diverticulum with Massive Pericardial Effusion

et al. 2009

View full text Add to dashboard Cite

Congenital ventricular cardiac diverticula are rare. They may occur prenatally in association with a pericardial effusion which, if large enough, can compromise fetal circulatory and lung development. Parental counseling is difficult because some cases resolve in the second trimester and others progress to worsening hydrops and intrauterine death. We present a case associated with a massive pericardial effusion that had a good outcome after successful pericardiocentesis relatively late in gestation considering the time of critical pulmonary development. We also review similar cases presented in the literature and discuss management options.

show abstract

Congenital Diverticulum of the Right Ventricle Associated with Coarctation of Aorta, Atrial and Ventricular Septal Defect and Ductus

Cited by 6 publications

References 11 publications

Cardiac troponin T is necessary for normal development in the embryonic chick heart

Cardiac troponin T is necessary for normal development in the embryonic chick heart

Effect of altered haemodynamics on the developing mitral valve in chick embryonic heart

Successful Outcome after Prenatal Treatment of a Cardiac Diverticulum with Massive Pericardial Effusion

Contact Info

Product

Resources

About