Esquirol-Séguin-Down Syndrome Associated with Atrial Septal Defect plus Tricuspid Regurgitation

Background: Esquirol-Séguin-Down syndrome (Trisomy 21) was first described by Jean-Etienne Dominique Esquirol in 1838 and later by Edouard Séguin in 1846. Thereafter, in 1862, John Langdon Down, a British physician emphasized that the syndrome is a distinct form of mental retardation. Congenital cardiac defects are observed in more than one third of the patients with Esquirol-Séguin-Down syndrome, and in approximately 80% these cardiac defects are atrioventricular septal defect or ventricular septal defect with the former being more common. The association of Esquirol-Séguin-Down syndrome with atrial septal defect plus tricuspid regurgitation has been rarely reported. The aim of this paper is to report the rare association of Esquirol-Séguin-Down syndrome with atrial septal defect plus tricuspid regurgitation. Patients and methods: Two and half years old boy with Esquirol-Séguin-Down syndrome, developmental delay and abnormal echocardiography was studied, and the recent relevant literatures were reviewed. Results: Dysmorphic facial features included hypertelorism, oblique palpebral fissures, epicanthic folds, depressed nasal bridge and low set ears. Echocardiography showed atrial septal defect with tricuspid regurgitation. Conclusion: This paper reports the first case of Esquirol-Séguin-Down syndrome in Iraq associated with atrial septal defect plus tricuspid regurgitation.

Right-to-left Shunt via Iatrogenic Atrial Septal Defect Requiring Emergency Surgical Repair following Cryoballoon Atrial Fibrillation Ablation in a Patient with Arrhythmogenic Right Ventricular Cardiomyopathy

An 81-year-old woman with arrhythmogenic right ventricular cardiomyopathy underwent catheter ablation for atrial fibrillation and atrial flutter. Hypoxemia refractory to the administration of oxygen was seen after transseptal puncture. Transthoracic echocardiography revealed right to left shunt via an iatrogenic atrial septal defect (IASD) that was increased by tricuspid regurgitation flow. Her hypoxemia improved after IASD occlusion with the inflation of a venogram balloon catheter. Emergent surgical IASD closure was successfully performed. IASD after transseptal puncture for atrial fibrillation ablation infrequently causes severe complications that require emergent repair.

PROCEDURAL TECHNICALITIES AND OUTCOME OF TRANSCATHETER CLOSURE OF ATRIAL SEPTAL DEFECT USING OCCLUTECH DEVICE IN TERTIARY CARE CENTRE

Objective: To determine the safety and efficacy of transcatheter closure of atrial septal defects and to evaluate the initial, midterm and long-term results of the treatment. Study Design: Cross sectional study. Place and Duration of Study: Department of Paediatric Cardiology, Rawalpindi Institute of Cardiology, Rawalpindi, from Jul 2017 to Jun 2018. Methodology: Sixty-four patients underwent transcatheter closure of atrial septal defect. Size of the defect was measured by Transoesophageal/Transthoracic. Follow up was carried out at twenty-four hours, one month, six months and at twelve months. Early, Midterm and late complications after device occlusion were analysed using SPSS-22 statistical software. Results: Minimum size of atrial septal defect on echocardiography was 7 mm and maximum size was 31 mm with mean of 18.3 ± 5.7 mm. The procedure was successful in 96.8% cases. There was only one device embolization (1.56%). Cobrahead” configuration malformation of the device occurred in one case (1.56%). Mitral valve regurgitation did not occur in any of the case. There was no residual shunt across the device in the present study. ECG abnormalities associated with transcatheter closure did not occur in any of the patient. In intermediate and long-term follow up, no complication like cardiac erosion was seen in all cases under study. Conclusion: Transcatheter occlusion of ASD with device was found effective and safe procedure with minimal complication rate, short hospital stay, good short, intermediate and long-term results.

Preoperative Left Ventricle End Diastolic Volume Index as a Predictor for Low Cardiac Output Syndrome After Surgical Closure of Secundum Atrial Septal Defect With Small-Sized Left Ventricle

Introduction: Low cardiac output syndrome is one of the postoperative complications that are associated with significant morbidity and mortality after surgical closure of atrial septal defect (ASD) with small-sized left ventricle (LV). This study investigated whether preoperative left ventricular end-diastolic volume index (LVEDVi) could accurately predict low cardiac output syndrome (LCOS) after surgical closure of ASD with small-sized LV.Method: This retrospective cohort study involved adult ASD patients with small-sized LV from January 2018 to December 2019 in National Cardiovascular Center Harapan Kita. Preoperative MRI data to assess the left and right ventricle volume were collected. A bivariate analysis using independent Student's t-test was done. Diagnostic test using receiver operating characteristic (ROC) curve was also done to obtain the area under the curve (AUC) value. The best cutoff point was determined by Youden's index.Result: Fifty-seven subjects were involved in this study [age (mean ± SD) 32.56 ± 13.15 years; weight (mean ± SD) 48.82 ± 12.15 kg]. Subjects who had post-operative LCOS (n = 30) have significantly lower LVEDVi (45.0 ± 7.42 ml/m2 vs. 64.15 ± 13.37 ml/m2; p < 0.001), LVEDV (64.6 ± 16.0 ml vs. 85.9 ± 20.7 ml; p < 0.001), LVSV (38.97 ± 11.5 ml vs. 53.13 ± 7.5 ml; p < 0.001), and LVSVi (27.28 ± 8.55 ml/m2 vs. 37.42 ± 5.35 ml/m2; p < 0.001) compared to subjects who did not have post-operative LCOS (n = 27). ROC analysis showed that the best AUC was found on LVEDVi (AUC 95.3%; 95% confidence interval: 90.6–100%). The best cutoff value for LVEDVi to predict the occurrence of LCOS after surgical closure of ASD was 53.3 ml/m2 with a sensitivity of 86.7% and a specificity of 85.2%.Conclusion: This study showed that preoperative LVEDVi could predict LCOS after surgical closure of ASD with small-sized LV with a well-defined cutoff. The best cutoff value of LVEDVi to predict the occurrence of LCOS after surgical ASD closure was 53.5 ml/m2.