Paediatric cardiology: atrioventricular septal defects

International Journal of Cardiology, 1986

We examined the cross-sectional echocardiographic findings of 171 patients with atrioventricular septal defects. The echocardiographic findings were confirmed by angiography, surgery and/or autopsy. The echocardiographic findings determined whether the common atrioventricular junction was guarded by a common valve or separate right and left valves. In addition, we were able to judge whether the bridging leaflets were related to the septal structures so as to permit both interatrial and interventricular communications [ 127 cases1 or whether the interatrial communication ("ostium primum atrial septal defect") [43 cases] or an interventricular communication [l case] existed in isolation. Defects existing with a common atrioventricular valve could be further classified as having minimal bridging of the antero-superior leaflet (Rastelli Type A (113 cases]); intermediate bridging (Rastelli Type B 13 cases]); or extreme bridging (Rastelli Type C [ 11 cases]). Of the patients with Down's syndrome, 9 had separate right and left valves while 66 had a common valve, all the latter existing in the setting of minimal bridging of the antero-superior leaflet. In the overall group, there were 9 cases having an unbalanced ventricular mass, 5 with right ventricular dominance and 4 with left dominance. Other associated defects were common. The echocardiographic findings were supplemented by pulsed Doppler examination. Atrioventricular valve insufficiency, when mild, was frequently demonstrated only in the right atrium just above the leaflets of the atrioventricular valve.

International Journal of Cardiology, 1984

A heart with an atrioventricular septal defect is characterized by absence of the atrioventricular muscular and membranous septa, a common atrioventricular junction, an unwedged position of the aortic valve annulus and disproportionate inlet-outlet dimensions of the ventricular septum. The clinical and post-mortem findings are described of a case which had intact atrial and ventricular septa but had all the other anatomical hallmarks of atrioventricular septal defect. The problems in clinical diagnosis may be overcome by cross-sectional echocardiography.

Journal of Cardiovascular Development and Disease, 2021

Robert Anderson has made a huge contribution to almost all aspects of morphology and understanding of congenital cardiac malformations, none more so than the group of anomalies that many of those in the practice of paediatric cardiology and adult congenital heart disease now call ‘Atrioventricular Septal Defect’ (AVSD). In 1982, with Anton Becker working in Amsterdam, their hallmark ‘What’s in a name?’ editorial was published in the Journal of Thoracic and Cardiovascular Surgery. At that time most described the group of lesions as ‘atrioventricular canal malformation’ or ‘endocardial cushion defect’. Perhaps more significantly, the so-called ostium primum defect was thought to represent a partial variant. It was also universally thought, at that time, that the left atrioventricular valve was no more than a mitral valve with a cleft in the aortic leaflet. In addition to this, lesions such as isolated cleft of the mitral valve, large ventricular septal defects opening to the inlet of ...

Journal of Interventional Cardiology, 2000

The anatomy of atrial and ventricular septal defects is reviewed with reference to the normal cardiac septum. Owing to the limited extent of the atrial septum, true septal defects are confined to the area of the oval fossa. The sinus venosus and coronary sinus defects are interatrial communications being outside the conjhes of the atrial septum and close to important atrial structures. The description of ventricular septal defects as perimembranous, muscular and doubly committed, and juxtaarterial defects highlights the anatomy of the margins, the location, and proximity to the conduction system and valvar structures. Malalignment of septal structures can complicate the anatomy of ventricular septal defects producing inlet or outlet obstruction. (J Interven Cardiol2000; 13:475-486)

Current Cardiology Reports, 2021

Atrioventricular septal defects (AVSD) represent a broad spectrum of congenital anomalies from simple to the most complex heart defects including some distinct types. Clinical presentation and timing of intervention differ by morphological subset and functional anatomy. Herein, we review morphological variations and characteristics that determine appropriate intervention and provide insights into functional anatomy based on detailed three-dimensional (3D) assessment of AVSDs. The understanding of functional morphology of AVSDs has improved significantly with detailed 3D echocardiographic evaluation of the atrioventricular junction and valve morphology. As prenatal detection of AVSDs has increased significantly, it has become the most common fetal cardiac diagnosis enabling antenatal counseling and delivery planning. Advances in diagnosis and perioperative care have resulted in optimal outcomes. The diagnosis and management of AVSDs have improved over the years with enhanced understa...

Teratology, 2001

Background: Recent advances in clinical, pathological, and genetic aspects of atrioventricular septal defects (AVSD) have set the stage for epidemiologic investigations into possible risk factors. Previous analyses of the total case group of AVSD included complete and partial subtypes without analysis of the subsets. Methods: To address the question of possible morphogenetic heterogeneity of AVSD, the Baltimore-Washington Infant Study data on live-born cases and controls (1981-1989) was reanalyzed for potential environmental and genetic risk-factor associations in complete AVSD (n ϭ 213), with separate comparisons to the atrial (n ϭ 75) and the ventricular (n ϭ 32) forms of partial AVSD. Results: Complete and ventricular forms of AVSD had a similar proportion of isolated cases (12.2% and 15.6%, respectively, without associated extracardiac anomalies) and high rates of Down syndrome, whereas the atrial form of partial AVSD included 55% isolated cases. Trisomy 18 occurred in 22% of infants with the ventricular form, compared with Ͻ2% in the other AVSD groups. Analysis of potential risk factors revealed further distinctions. Complete AVSD as an isolated cardiac defect was strongly associated with maternal diabetes (odds ratio [OR] ϭ 20.6; 95% confidence interval [CI] ϭ5.6-76.4) and also with antitussive use (OR ϭ 8.8; CI ϭ 1.2-48.2); there were no strong associations other than maternal age among Down syndrome infants with this type of heart defect. Isolated cases with the atrial type of partial AVSD were associated with a family history of heart defects (OR ϭ 6.2; CI ϭ 1.4-24.4) and with paternal occupational exposures to ionizing radiation (OR ϭ 5.1; CI ϭ 1.4-27.4), but no risk factors were associated with Down syndrome. There were no significant associations of any risk factors in the numerically small subsets of isolated and Down syndrome cases with the ventricular form of partial AVSD. Conclusions: These results indicate a similar risk profile of complete AVSD and the ventricular type of partial AVSD, with a possible subset of the latter due to trisomy 18. Maternal diabetes constituted a potentially preventable risk factor for the most severe, complete form of AVSD.

Cardiovascular Ultrasound, 2008

Objective: Correlate the anatomic features of atrioventricular septal defect with echocardiographic images. Materials and methods: Sixty specimen hearts were studied by sequential segmental analysis. Echocardiograms were performed on 34 patients. Specimen hearts with findings equivalent to those of echocardiographic images were selected in order to establish an anatomoechocardiographic correlation. Results: Thirty-three specimen hearts were in situs solitus, 19 showed dextroisomerism, 6 were in situs inversus and 2 levoisomerism. Fifty-eight had a common atrioventricular valve and 2 had two atrioventricular valves. Rastelli types were determined in 21 hearts. Nine were type A, 2 intermediate between A and B, 1 mixed between A and B, 4 type B and 5 type C. Associated anomalies included pulmonary stenosis, pulmonary atresia atrial septal defect, patent ductus arteriosus and anomalous connection of pulmonary veins. Echocardiograms revealed dextroisomerism in 12 patients, situs solitus in 11, levoisomerism in 7 and situs inversus in 4. Thirty-one patients had common atrioventricular valves and three two atrioventricular valves. Rastelli types were established in all cases with common atrioventricular valves; 17 had type A canal defects, 10 type B, 3 intermediate between A and B, 1 mixed between A and B and 3 type C. Associated anomalies included regurgitation of the atrioventricular valve, pulmonary stenosis, anomalous connection of pulmonary veins, pulmonary hypertension and pulmonary atresia. Conclusion: Anatomo-echocardiographic correlation demonstrated a high degree of diagnostic precision with echocardiography.

Pediatric Cardiology, 1996

A morphometric study was performed in 18 human hearts with atrioventricular septal defect not associated with other anomalies; 16 hearts had common atrioventricular orifices, and 2 presented separate right and left atrioventricular orifices. A total of eight parameters were analyzed, characterizing ventricular wall thickness, length and circumference of the inflow and outflow tracts, and circumference of the left orifice and aortic orifice. The data were compared with previously published patterns of normality. In addition, the volume of the aortic outflow tract was calculated. The inflow tract was shorter than the outflow tract, and the length of the diaphragmatic wall was equal to the sum of the lengths of the inflow tract and ventricular wall thickness at the level of the apex.

Heart, 1979

Anatomical studies were made on 114 necropsy specimens of atrioventricular defects with atrioventricular concordance. The malformation is characterised by disproportion between the ventricular inlet and outlet dimensions and a malorientation of the aortic valve relative to the atrioventricular valve or valves. Associated with this there is a characteristic 'scooped-out' appearance of the muscular ventricular septum, gross abnormalities of the membranous components of the septum as compared with the normal heart, and narrowing of the aortic outflow tract. Hearts with these anatomical features can be divided into partial and complete forms depending on the morphology of the atrioventricular annuli. In the partial form the septal leaflets are conjoined to give separate mitral and tricuspid orifices, the conjoined leaflets being displaced into the ventricles and usually attached to the crest of the septum. In the complete form, anterior and posterior components of the 'septal' leaflets are separate, so that a single valve orifice connects the atrial to the ventricular chambers. Further subdivision of the complete form, apart from the morphology of the anterior leaflet, is dependent upon the presence or absence of an ostium primum atrial septal defect. 'G. P. P. was a visiting fellow from Ospedale GM Lancisi, Ancona, Italy. 2F. J. M. and R. H. A. are supported by the British Heart Foundation together with the Vandervell Foundation and the Joseph Levy Foundation, respectively.

Cardiology in the Young, 2011

We describe two infants having an atrioventricular septal defect in the setting of a double inlet atrioventricular connection, but with patency of the left-sided valvar orifice and an imperforate right-sided valvar component, and a further case with atrioventricular septal defect and an imperforate Ebstein's malformation, all producing the haemodynamic effect of tricuspid atresia. We make comparisons with the arrangement in trisomy 16 mice, in whom deficient atrioventricular septation is seen at times with the common atrioventricular junction exclusively connected to the left ventricle, a situation similar to that seen in two of our infants. We also review previous reports emphasising the important theoretical implication of the findings despite their rarity.