Ventricular septal defect characteristics influence presence of septal anatomical isthmuses in patients with repaired tetralogy of Fallot.

Aims: In repaired tetralogy of Fallot (rTOF), the septal anatomical isthmuses (AI), AI 3, between the ventricular septal defect (VSD) and pulmonary annulus, and AI 4, between the VSD and tricuspid annulus, are important ventricular tachycardia (VT) substrates when slow conducting. Our aim was to assess the influence of VSD characteristics, specifically the presence of muscular or fibrous tissue at its border, on the presence or absence of septal AIs, potentially related to VT.

Methods And Results: All consecutive rTOF patients who underwent electroanatomical mapping between January 2005 and March 2023 with an available surgical report providing VSD details (n = 91) were included.

Deficient Myocardial Organization and Pathological Fibrosis in Fetal Aortic Stenosis-Association of Prenatal Ultrasound with Postmortem Histology.

In fetal aortic stenosis (AS), it remains challenging to predict left ventricular development over the course of pregnancy. Myocardial organization, differentiation and fibrosis could be potential biomarkers relevant for biventricular outcome. We present four cases of fetal AS with varying degrees of severity and associate myocardial deformation on fetal ultrasound with postmortem histopathological characteristics.

Pulmonary ductal coarctation and left pulmonary artery interruption; pathology and role of neural crest and second heart field during development.

Objectives: In congenital heart malformations with pulmonary stenosis to atresia an abnormal lateral ductus arteriosus to left pulmonary artery connection can lead to a localised narrowing (pulmonary ductal coarctation) or even interruption We investigated embryonic remodelling and pathogenesis of this area.

Material And Methods: Normal development was studied in WntCre reporter mice (E10.0-12.

The Development of the Ascending Aortic Wall in Tricuspid and Bicuspid Aortic Valve: A Process from Maturation to Degeneration.

Background: Patients with a bicuspid aortic valve (BAV) have an increased risk for aortic dilation and dissection. In this study, we provide a histological stratification of the developing aorta in the tricuspid aortic valve (TAV) and the BAV populations as a reference for future studies on aortopathy and related syndromes.

Methods: Non-dilated TAV and BAV ascending aortic wall samples were collected, including 60 TAV (embryonic-70 years) and 32 BAV specimens (fetal-72 years, categorized in eight age groups.

Coronary anatomy in Turner syndrome versus patients with isolated bicuspid aortic valves.

Objective: Variations in coronary anatomy, like absent left main stem and left dominant coronary system, have been described in patients with Turner syndrome (TS) and in patients with bicuspid aortic valves (BAV). It is unknown whether coronary variations in TS are related to BAV and to specific BAV subtypes.

Aim: To compare coronary anatomy in patients with TS with/without BAV versus isolated BAV and to study BAV morphology subtypes in these groups.

Coding of coronary arterial origin and branching in congenital heart disease: The modified Leiden Convention.

Objectives: Variations in coronary anatomy are common and may relate to the position of the coronary ostium relative to the aortic sinus, the angle of coronary take-off, or the course of the coronary arterial branches. Several classification systems have been proposed. However, they all lack a simple rationale that is applicable irrespective of the relative position of the great arteries, as well as in bicuspid aortic valves.

Pulmonary Valve Morphology in Patients with Bicuspid Aortic Valves.

The aortic and pulmonary valve share a common developmental origin from the embryonic arterial trunk. Bicuspid aortic valve is the most common congenital anomaly and can occur isolated as well as in association with other congenital heart disease (CHD). Data on pulmonary valve morphology in these cases are scarce.

Impact of surgery on presence and dimensions of anatomical isthmuses in tetralogy of Fallot.

Objective: In tetralogy of Fallot (TOF), the dominant ventricular tachycardia substrates are slow-conducting anatomical isthmuses. Surgical correction has evolved, which might have influenced isthmus presence and dimensions.

Methods: One hundred and forty-two postmortem TOF specimens (84/58 corrected/uncorrected) were studied for isthmus presence.

Intracardiac anatomical relationships and potential for streaming in double inlet left ventricles.

The aim of this study was to gain better understanding of the variable anatomical features of double inlet left ventricle hearts without cavopulmonary connection that would potentially facilitate favorable streaming. Thirty-nine post-mortem specimens of double inlet left ventricle without cavopulmonary connection were investigated. The focus was on anatomical characteristics that could influence the flow and separation of deoxygenated and oxygenated blood in the ventricles.

The extent of the raphe in bicuspid aortic valves is associated with aortic regurgitation and aortic root dilatation.

Background: The clinical course of bicuspid aortic valves (BAVs) is variable. Data on predictors of aortopathy and valvular dysfunction mainly focus on valve morphology.

Aim: To determine whether the presence and extent of the raphe (fusion site of valve leaflets) is associated with the degree of aortopathy and valvular dysfunction in patients with isolated BAV and associated aortic coarctation (CoA).

Atrioventricular septal defect: From embryonic development to long-term follow-up.

Atrioventricular septal defect (AVSD) covers a spectrum of heart anomalies with a common atrioventricular connection and has an incidence of 4-5.3 per 10.000 live births.

How Normal is a 'Normal' Heart in Fetuses and Infants with Down Syndrome?

Background: Congenital heart disease is present in 44-56% of fetuses with Down syndrome (DS). There are, however, signs that hearts in DS without apparent structural heart defects also differ from those in the normal population. We aimed to compare the atrioventricular (AV) septum and valves in 3 groups: DS without AV septal defect (DS no-AVSD), DS with AVSD (DS AVSD) and control hearts.

Morphogenesis and molecular considerations on congenital cardiac septal defects.

The primary unseptated heart tube undergoes extensive remodeling including septation at the atrial, atrioventricular, ventricular, and ventriculo-arterial level. Alignment and fusion of the septal components is required to ensure full septation of the heart. Deficiencies lead to septal defects at various levels.

Evolution and development of ventricular septation in the amniote heart.

During cardiogenesis the epicardium, covering the surface of the myocardial tube, has been ascribed several functions essential for normal heart development of vertebrates from lampreys to mammals. We investigated a novel function of the epicardium in ventricular development in species with partial and complete septation. These species include reptiles, birds and mammals.

Imaging the first trimester heart: ultrasound correlation with morphology.

First trimester sonography is a widely used technique to examine the foetus early in pregnancy. The desire to recognise complex anatomy already in early developmental stages stresses the need for a thorough knowledge of basic developmental processes as well as recognition of cardiac compartments based on their morphology. In this paper, we describe the possibilities and limitations of sonographic assessment of the foetal heart between 10 and 14 weeks of gestation and correlate this to morphology.

Bicuspid aortic valve morphology and associated cardiovascular abnormalities in fetal Turner syndrome: a pathomorphological study.

Introduction: Bicuspid aortic valve (BAV) is common in Turner syndrome (TS). In adult TS, 82-95% of BAVs have fusion of the right and left coronary leaflets. Data in fetal stages are scarce.

Differential and linear insertion of atrioventricular valves: a useful tool?

Objective: The differential insertion of the atrioventricular valves is the ultrasonographic representation of the more apical attachment of the tricuspid valve to the septum with respect to the mitral valve. A linear insertion is present when both valves form a linear continuum and has been suggested as a marker for atrioventricular septal defects (AVSDs). The objective of this study was to evaluate the anatomical substratum of differential and linear insertions of the atrioventricular valves in normal fetal hearts and fetal hearts with an AVSD.

Embryology of the heart and its impact on understanding fetal and neonatal heart disease.

Heart development is a complex process during which the heart needs to transform from a single tube towards a fully septated heart with four chambers and a separated outflow tract. Several major events contribute to this process, that largely overlap in time. Abnormal heart development results in congenital heart disease, which has an estimated incidence of 1% of liveborn children.

Morphogenesis of outflow tract rotation during cardiac development: the pulmonary push concept.

Background: Understanding of cardiac outflow tract (OFT) remodeling is essential to explain repositioning of the aorta and pulmonary orifice. In wild type embryos (E9.5-14.

The arterial and cardiac epicardium in development, disease and repair.

The importance of the epicardium covering the heart and the intrapericardial part of the great arteries has reached a new summit. It has evolved as a major cellular component with impact both in development, disease and more recently also repair potential. The role of the epicardium in development, its differentiation from a proepicardial organ at the venous pole (vPEO) and the differentiation capacities of the vPEO initiating cardiac epicardium (cEP) into epicardium derived cells (EPDCs) have been extensively described in recent reviews on growth and transcription factor pathways.