A 40-year-old Down patient without previous cardiological history was admitted to our institution for dyspnoea after COVID-19 vaccine. CT scan revealed a pulmonary thromboembolism. One week later, he developed neurological impairment and CT scan evidenced a left parietal ischaemic lesion. Concomitantly, he underwent echocardiography showing an atrioventricular septal defect typically associated to Down syndrome and never diagnosed earlier. The diagnosis of paradoxical embolisation was then supposed. Echocardiography also revealed a severe right heart section dilatation, with bidirectional shunt on the septal defects and systemic right heart pressure. Down patients affected by CHD are more prone to develop pulmonary vasculopathy than non-syndromic patients. In this case, the pulmonary vasculopathy was further exacerbated by the pulmonary embolism and by the late diagnosis of CHD. Finally, an appropriate timely diagnosis of atrioventricular septal defect could potentially avoid the neurological complication in this patient.

The tricuspid valve is being increasingly recognised as an important safeguard to the heart with congenital heart disease. Both structural anomalies of the valve and functional burdens from other malformations of the right heart can lead to major haemodynamic consequences both upstream and downstream. The indications to surgically intervene on the tricuspid valve are evolving and vary depending on the malformation. The extant surgical techniques and their applications to corresponding frequent congenital anomalies of the tricuspid valve are reviewed.

A two-year-old boy with a background history of Down syndrome and partial atrioventricular septal defect presented with acute respiratory distress requiring intubation and mechanical ventilation. He continued to deteriorate, despite ventilation; direct laryngoscopy, bronchoscopy, and computed tomography demonstrated severe long segment tracheal stenosis. He was placed on extracorporeal membrane oxygenation to stabilise his condition. A slide tracheoplasty and complete repair of the partial atrioventricular septal defect was successfully undertaken. His post-operative recovery was complicated by myocardial infarction and stroke but he made a full recovery. This represents the first report of slide tracheoplasty and partial atrioventricular septal defect repair in a child following extracorporeal membrane oxygenation support.

Shwachman–Diamond syndrome is an inherited bone marrow failure and cancer predisposition syndrome that affects multiple organ systems, including bone, pancreas, and, to a lesser extent, the heart. Myocardial fibrosis, necrosis, and a case of dilated cardiomyopathy have, so far, been described. We report the first case of atrioventricular septal defect in a patient with Shwachman–Diamond syndrome.

Long-term left atrioventricular valvar function was evaluated in 95 of 110 survivors following surgical repair of atrioventricular septal defect between 1975 and 1984. A common or complete form was present in 40 and a partitioned or partial form in 55 patients. The patients have been followed for three to 13 years with a mean of 8.3 years. Pulmonary arterial banding was performed in 17 patients with a common atrioventricular valve prior to complete repair. The left atrioventricular valvar regurgitation was evaluated by clinical examination, Doppler and/or angiography. Three patients required valvar replacement postoperatively. Previous pulmonary arterial banding, pulmonary hypertension or pulmonary-to-systemic flow ratio did not affect the incidence or severity of left atrioventricular valvar regurgitation postoperatively. In this series left atrioventricular valvar regurgitation increased in the early postoperative period but rarely progressed at late follow-up.

Described are the clinical, cross-sectional echocardiographic, electrocardiographic and angiographic findings, together with the results at autopsy, in a 5-month old infant with a common arterial trunk associated with an atrioventricular septal defect. As far as is known, this is only the 13th such case to be reported in the literature. A particularly unusual feature of this case was an intact atrial component of the atrioventricular septal defect.

We describe a 39-year-old woman who was diagnosed as having an unusual atrioventricular septal defect with a communication from left atrium to right ventricle. A common atrioventricular junction, with partially separated right and left atrioventricular orifices, was found at transoesophageal ultrasonic examination. Both bridging leaflets were attached to the underside of the atrial septum, which was grossly malaligned relative to the ventricular septum. The shunt was exclusively from left atrium to right ventricle because of the overriding of the left atrioventricular valve, with the left component of the inferior bridging leaflet firmly fused to the ventricular septal crest.

We describe a rare type of atrioventricular septal defect with common atrioventricular orifice and malaligned atrial septum, the latter feature resulting in severe obstruction of the left atrial egress. Excision of the atrial septum and banding of the pulmonary trunk was performed at the age of thirteen months. Lung biopsy demonstrated marked medial hypertrophy with severe intimal fibrosis in the small pulmonary arteries and mild thickening of the pulmonary veins, considered contraindications for corrective surgery.

The aim of this study was to clarify those morphological features and hemodynamic stress factors which influence the electrocardiographic findings in atrioventricular septal defect. In 64 patients with the incomplete form of atrioventricular septal defect (separate valvar orifices) with usual atrial arrangement, the length from the left ventricular apex to the aortic valve (outlet dimension), to the so-called cleft (scoop dimension), and to the lowest point of the left atrioventricular valve (inlet dimension) were measured by biplanar cineangiography. The size of the ostium primum defect, the ventricular pressure ratio, and the pulmonary/systemic flow ratio were also evaluated. The results showed that the lower the scoop/outlet ratio (r=0.60, p<0.001), or the higher the ventricular pressure ratio (r= −0.55, p<0.001), the more deviated to the left and superior was the mean frontal QRS axis. These factors also had significant correlation with the QRS patterns in the Frank vectorcardiogram. We conclude that the scoop/outlet ratio, supposedly reflecting the degree of scooping of the interventricular septum, is one of the most significant factors which influence the electrocardiographic findings in atrioventricular septal defect.

A case of a complete atrioventricular septal defect was detected in a 20-week gestation fetus, in whom the ventricular component of the defect was subsequently noted to close spontaneously with advancing gestational age. The antenatal and postnatal findings are discussed.

Complex congenital heart defects are accurately detectable antenatally using fetal echocardiography. In continuing pregnancies with fetal cardiac abnormalities, regular follow-up with advancing gestation is essential. This report documents the changes that occurred in the fetal cardiac anatomy in a fetus detected during antenatal scanning to have an atrioventricular septal defect with isomerism of the left atrial appendages.

We described previously that the degree of deficiency of the ventricular septum (scooping) affects electrocardiographic findings in atrioventricular septal defect with separate right and left atrioventricular orifices. The aim of this study was to clarify the clinicomorphological relationships of the degree of scooping, the precise morphology of the atrioventricular valve, and electrocardiographic findings in hearts having a common atrioventricular orifice. In 63 patients with usual atrial arrangement, the outlet, scoop and inlet dimensions of the ventricular septum were measured by biplanar cineangiography and were compared with the body surface area. The scoop/outlet ratio and inlet/outlet ratio were also compared with the body surface area, atrioventricular valvar morphology, electrocardiographic findings, and severity of regurgitation of the atrioventricular valve. The results showed that the three individual dimensions of the septum correlated significantly with the body surface area, even though the scoop/outlet ratio and inlet/outlet ratio did not. A correlation was found between the scoop/outlet ratio and the degree of left axis deviation on the electrocardiogram (r=0.74, p<0.001). In 16 patients with division of the inferior bridging leaflet, there was a lower scoop/outlet ratio than in the remaining 37 with an undivided bridging leaflet (p<0.01). Of 24 patients with counterclockwise rotation in the horizontal loop of the vectorcardiogram, 22 had an undivided inferior bridging leaflet (p<0.01). The morphology of the superior bridging leaflet, in contrast, was not associated with the scoop/outlet ratio, and neither was the severity of valvar regurgitation. We conclude that the degree of scooping of the ventricular septum is related not only to electrocardiographic findings, but also to the morphology of the inferior bridging leaflet in atrioventricular septal defect with common atrioventricular orifice.