Osteogenesis imperfecta is a collagen type I bone disorder. Recently, extra-skeletal manifestations have been described, including many cardiovascular alterations. This study aims to report echocardiogram study in children with osteogenesis imperfecta compared to a control group.

A cross-sectional comparative study took place in the Reference Center for Treatment of Osteogenesis Imperfecta in Southern Brazil. Fifty-four patients with osteogenesis imperfecta were paired with 54 controls, based on body surface area, and echocardiogram findings were compared.

All cases were asymptomatic for cardiac manifestations. The case group presented significant larger values in aortic diameter, left atrium diameter, left ventricule end-diastolic diameter, left ventricule end-systolic diameter, and right ventricle diameter compared with the control group. The analysis considering the severity of osteogenesis imperfecta shows that in mild osteogenesis imperfecta, the aortic diameter (p < 0.001), left atrium diameter (p = 0.002), left ventricule end-diastolic diameter (p = 0.001), left ventricule end-systolic diameter (p = 0.026), and right ventricle diameter (p < 0.001) were significantly larger than in the control group. Patients with moderate/severe osteogenesis imperfecta had similar results, with aortic diameter (p < 0.001), left atrium diameter (p < 0.001), left ventricule end-diastolic diameter (p = 0.013), and left ventricule end-systolic diameter (0.004) statistically larger than controls. Twenty-six (48.1%) of the cases had physiological tricuspid regurgitation and in controls this finding was observed in eight (14.8%) (p < 0.001).

Children with osteogenesis imperfecta presented cardiac function within the normal pattern, but dimensions of left ventricular dimensions were increased compared to the ones of the controls.

Double-chambered right ventricle is characterised by division of the outlet portion of the right ventricle by hypertrophy of the septoparietal trabeculations into two parts. We aim to report our experiences regarding the presenting symptoms of double-chambered right ventricle, long-term prognosis, including the recurrence rate and incidence of arrhythmias after surgery.

We retrospectively investigated 89 consecutive patients who were diagnosed to have double-chambered right ventricle and underwent a surgical intervention from 1995 to 2016. The data obtained by echocardiography, cardiac catheterisation, and surgical findings as well as post-operative follow-up, surgical approaches, post-operative morbidity, mortality, and cardiac events were evaluated.

Median age at the time of diagnosis was 2 months and mean age at the time of operation was 5.3 years. Concomitant cardiac anomalies were as follows: perimembranous ventricular septal defect (78 patients), atrial septal defect (9 patients), discrete subaortic membrane (32 patients), right aortic arch (3 patients), aortic valve prolapse and/or mild aortic regurgitation (14 patients), and left superior caval vein (2 patients). The mean follow-up period was 4.86 ± 4.6 years. In these patients, mean systolic pressure gradient in the right ventricle by echocardiography before, immediately, and long-term after surgical intervention was 66.3, 11.8, and 10.4 mmHg, respectively. There were no deaths during the long-term follow-up period. Surgical reinterventions were performed for residual ventricular septal defect (2), residual pulmonary stenosis (1), and severe tricuspid insufficiency (1).

The surgical outcomes and prognosis of double-chambered right ventricle are favourable, recurrence and fatal arrhythmias are unlikely in long-term follow-up.

Young patients suffering from rhythm disorders have a negative impact in their quality of life. In recent years, ablation has become the first-line therapy for supraventricular arrhythmias in children. In the light of the current expertise and advancement in the field, we decided to evaluate the quality of life in young patients with supraventricular arrhythmias before and after a percutaneous ablation procedure.

The prospective cohort consisted of patients <18 years with structurally normal hearts and non-pre-excited supraventricular arrhythmias, who had an ablation in our centre from 2013 to 2018. The cohort was evaluated with the PedsQL™ 4.0 Generic Core Scales self-questionnaire prior to and post-ablation.

The final cohort included 88 patients consisted of 52 males (59%), with a mean age at ablation of 12.5 ± 3.3 years. Forty-two patients (48%) had a retrograde-only accessory pathway mediating the tachycardia, 38 (43%) had atrio-ventricular nodal re-entrant tachycardia, 7 (8%) had ectopic atrial tachycardia, and 1 (1%) had atrial flutter. The main reason for an ablation was the patient’s choice in 53%. There were no severe complications. Comparison between the baseline and post-ablation assessments showed that patients reported significant improvement in the scores for physical health, emotional and social functioning, as well as in the total scores.

The present study demonstrates that the successful treatment of supraventricular arrhythmias by means of an ablation results in a significant improvement in the quality of self-reported life scores in young patients.

There are several published echo-derived scores to help predict successful biventricular versus univentricular palliation in neonates with critical aortic stenosis. This study aims to determine whether any published scoring system accurately predicted outcomes in these neonates.

Single centre, retrospective cohort study including neonates who underwent aortic valve intervention (surgical valvotomy or balloon valvuloplasty) with the intention of biventricular circulation. Primary outcome was survival with biventricular circulation at hospital discharge. Data from their initial neonatal echocardiogram were used to compute the following scores – Rhodes, CHSS 1, Discriminant, CHSS 2, and 2 V.

Between 01/1999 and 12/2017, 68 neonates underwent aortic valve intervention at a median age of 4 days (range 1–29 days); 35 surgical valvotomy and 33 balloon valvuloplasty. Survival with biventricular circulation was maintained in 60/68 patients at hospital discharge. Of the remaining eight patients, three were converted to univentricular palliation, four died, and one underwent heart transplant prior to discharge. None of the binary score predictions of biventricular versus univentricular (using that score’s proposed cut-offs) were significantly associated with the observed outcome in this cohort. A high percentage of those predicted to need univentricular palliation had successful biventricular repair: 89.4% by Rhodes, 79.3% by CHSS 1, 85.2% by Discriminant, and 66.7% by CHSS 2 score. The 2 V best predicted outcome and agreed with the local approach in most cases.

This study highlights the limitations of and need for alternative scoring systems/cut-offs for consistently accurate echocardiographic prediction of early outcome in neonates with critical aortic stenosis.

Thrombocytopenia occasionally occurs following the closure of some giant patent ductus arteriosus cases. Unfortunately, there is no associated research describing the associated risk factors for thrombocytopenia post-procedure.

We reviewed all patients who received occluders with sizes ≥10/12 mm between January 2013 and June 2019. All the data and information on the characteristics of the patients and their follow-up were recorded. Univariate analysis, receiver operating characteristic curves, and linear regression were used to analyse the risk factors for thrombocytopenia and the predictors of hospitalisation stay.

Finally, 32 patients (17.5%) suffered from thrombocytopenia. Univariate analysis revealed the ratio between occluder disc size (mm) and body weight (kg) (1.71 ± 0.51 versus 1.35 ± 0.53) as an independent predictive factor for thrombocytopenia, and the area under the curve of the ratio of occluder size and body weight for predicting thrombocytopenia post-closure was 0.691 (95% confidence interval: 0.589–0.792, p = 0.001). The best cut-off value for the ratio of occluder size and weight was 1.5895, with a sensitivity and specificity of 68.8 and 66.9%, respectively. Each unit of the ratio of occluder size and body weight predicted an average hospitalisation stay of 2.856 days (95% confidence interval: 1.380–4.332). Treatment with medication did not reduce the hospitalisation stay or benefit platelet restoration.

Once the ratio of occluder size and body weight is greater than 1.6, thrombocytopenia always exists. Every unit of the ratio of occluder size and body weight represents an additional 3 days of hospitalisation. Treatment does not reduce the duration of hospitalisation.