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Morbidity and mortality in Down syndrome (DS) are mainly related to congenital heart defects (CHDs). While CHDs with high prevalence in DS (typical CHDs), such as endocardial cushion defects, have been extensively described, little is known about the impact of less common CHDs (atypical CHDs), such as aortic coarctation and univentricular hearts. In our single‐center study, we analyzed, in observational, retrospective manner, data regarding cardiac features, surgical management, and outcomes of a cohort of DS patients. Literature review was performed to investigate previously reported studies on atypical CHDs in DS. Patients with CHDs were subclassified as having typical or atypical CHDs. Statistical analysis was performed for comparison between the groups. The study population encompassed 859 DS patients, 72.2% with CHDs, of which 4.7% were atypical. Statistical analysis showed a significant excess in multiple surgeries, all‐cause mortality and cardiac mortality in patients with atypical CHDs (p =.0067, p =.0038, p =.0001, respectively). According to the Kaplan–Meier method, survival at 10 and 40 years was significantly higher in typical CHDs (99 and 98% vs. 91 and 84%, log rank <0.05). Among atypical CHDs, it seems that particularly multiple complex defects in univentricular physiology associate with a worse outcome. This may be due to the surgical difficulty in managing univentricular hearts with multiple defects concurring to the clinical picture or to the severity of associated defects themselves. Further studies need to address this specific issue, also considering the higher pulmonary pressures, infective complications, and potential comorbidities in DS patients. [ABSTRACT FROM AUTHOR]

Congenital heart diseases (CHDs) and cardiovascular abnormalities are one of the pillars of clinical diagnosis of 22q11.2 deletion syndrome (22q11.2DS) and still represent the main cause of mortality in the affected children. In the past 30 years, much progress has been made in describing the anatomical patterns of CHD, in improving their diagnosis, medical treatment, and surgical procedures for these conditions, as well as in understanding the underlying genetic and developmental mechanisms. However, further studies are still needed to better determine the true prevalence of CHDs in 22q11.2DS, including data from prenatal studies and on the adult population, to further clarify the genetic mechanisms behind the high variability of phenotypic expression of 22q11.2DS, and to fully understand the mechanism responsible for the increased postoperative morbidity and for the premature death of these patients. Moreover, the increased life expectancy of persons with 22q11.2DS allowed the expansion of the adult population that poses new challenges for clinicians such as acquired cardiovascular problems and complexity related to multisystemic comorbidity. In this review, we provide a comprehensive review of the existing literature about 22q11.2DS in order to summarize the knowledge gained in the past years of clinical experience and research, as well as to identify the remaining gaps in comprehension of this syndrome and the possible future research directions. [ABSTRACT FROM AUTHOR]

Aim: Young patients with operated complex congenital heart defects (CHD) often develop sinus node dysfunction (SND) requiring permanent pacing with rate-responsive function. Activity-driven sensors cannot account for nonmovement stress and cannot modulate heart rate physiologically. Closed Loop Stimulation (CLS, Biotronik, Berlin, Germany) is a physiological rate-responsive pacemaker based on the indirect measure of ventricular contractility. No data are available on the effects of such pacing strategy in young patients.Methods: We report a series of nine patients with CHD and SND who underwent single-chamber CLS-atrial pacing with endocardial or epicardial lead. During the first 30 days, the pacemaker was programmed in AAI pacing mode and then was switched to CLS-atrial pacing mode. An in-hospital control was scheduled 1–2 months later to evaluate the CLS response to neurovegetative stresses (i.e.,nonmovement stress [Stroop color test, handgrip] and exercise stress test) and Holter monitor. CLS pacing was compared with rate-responsive accelerometer-driven pacing (AAIR).Results: At telemetric interrogation, CLS pacing showed a more physiological pattern of 24-h heart rate trends than accelerometer sensors. The data obtained during nonmovement/exercisestress demonstrated a physiological increase in the pacing rate with CLS, in synergy with spontaneous events. The accelerometer sensor histogram, during nonmovement stress, showed a “non-response" behavior (only lower rate events), and during exercise test showed most events in lower rate range. Holter monitoring showed increase of average and maximum heart rate compared with AAIR.Conclusion: In young CHD patients, endocardial/epicardial CLS-atrial pacing demonstrated a physiological response of heart rate to neurovegetative and physical stresses. [ABSTRACT FROM AUTHOR]

Specific types and subtypes of cardiac defects have been described in children with 22q11.2 deletion syndrome as well as in other genetic syndromes. The conotruncal heart defects occurring in patients with 22q11.2 deletion syndrome include tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic arch, isolated anomalies of the aortic arch, and ventricular septal defect. These conotruncal heart defects are frequently associated in this syndrome with additional cardiovascular anomalies of the aortic arch, pulmonary arteries, infundibular septum, and semilunar valves complicating cardiac anatomy and surgical treatment. In this review we describe the surgical anatomy, the operative treatment, and the prognostic results of the cardiac defects associated with 22q11.2 deletion syndrome. According to the current literature, in patients with tetralogy of Fallot with/without pulmonary atresia and truncus arteriosus, in spite of the complex cardiac anatomy, the presence of 22q11.2 deletion syndrome does not worsen the surgical prognosis. On the contrary in children with pulmonary atresia with ventricular septal defect and probably in those with interrupted aortic arch the association with 22q11.2 deletion syndrome is probably a risk factor for the operative treatment. The complex cardiovascular anatomy in association with depressed immunological status, pulmonary vascular reactivity, neonatal hypocalcemia, bronchomalacia and broncospasm, laryngeal web, and tendency to airway bleeding must be considered at the time of diagnosis and surgical procedure. Specific diagnostic, surgical, and perioperative protocols should be applied in order to provide appropriate treatment and to reduce surgical mortality and morbidity. © 2008 Wiley-Liss, Inc. Dev Disabil Res Rev 2008;14:35–42. [ABSTRACT FROM AUTHOR]

Aim: To correlate anatomic and genetic features of paediatric patients with pulmonary atresia, ventricular septal defect (VSD) and multiple aortopulmonary collateral arteries with surgical outcome. Methods: 44 consecutive patients aged 33±40 mo underwent either primary one-stage unifocalization ( n =32) or palliative right ventricular outflow tract reconstruction ( n =12) followed by secondary unifocalization and repair ( n =10) based on preoperative morphometric and functional evaluation of pulmonary blood sources. Chromosome 22q11.2 microdeletion occurred in 41% of cases. Combined VSD closure during one-stage procedures was guided by an intraoperative pulmonary flow study. Complete repair was accomplished in 35 cases (83%, 95% CI 72–95%). Variables examined included occurrence of confluent intrapericardial pulmonary arteries, central pulmonary arteries, confluent intraparenchymal pulmonary arteries, dominant collateral or pulmonary arteries, and chromosome 22q11.2 microdeletion. The sensitivity and specificity of the pulmonary flow study in predicting postoperative pulmonary haemodynamics were also tested. Results: Eight-year actuarial survival and freedom from reoperation were 85% and 63%, respectively. Sensitivity and specificity of the pulmonary flow study were 94% and 100%, respectively. None of the anatomical variables examined was significantly related to the outcome of treatment. The only statistically relevant association was detected between survival and occurrence of 22q11.2 microdeletion ( p <0.003). Logistic analysis showed an increased likelihood of positive outcome in relation to first- ( p <0.02) or second-stage ( p <0.04) complete correction. Conclusion: Morphology of pulmonary blood supply has no major impact on surgical outcome. Pulmonary flow study is a highly specific and sensitive intraoperative test. Chromosome 22q11.2 microdeletion remains the only variable significantly affecting survival. [ABSTRACT FROM AUTHOR]

Objective: We analyze the incidence of postoperative severe airflow limitation after single-stage unifocalization in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries (PA/VSD/MAPCAs) and comment on the treatment performed., Methods: From 1994 until 2014, 118 patients with diagnosis of PA, VSD, MAPCAs underwent surgical treatment. Four patients (3.4%) developed severe airflow complications postoperatively. Chromosome 22q11 deletion was present in three of them. Median age at the time of unifocalization was 6.2 months (range 21 days to 11 months)., Results: The first patient developed malacia and compression of the left bronchus from the distal RV-PA conduit and was treated with external bronchial stenting with two incomplete costal cartilage rings. The second patient developed recurrent esophagus-left bronchus fistula treated with multiple surgical esophageal and bronchus reconstructions. The third child presented with bilateral bronchial malacia treated with bilateral stenting followed by surgical elongation of the neo-left pulmonary artery to avoid external compression. The last patient developed bilateral bronchomalacia treated with bilateral bronchial stenting followed by RV-PA conduit replacement and endobronchial stenting calibration., Conclusion: Particular categories of patients with PA, VSD, MAPCAs (22q11 chromosome deletion, neonates/infants, patients with dominant/exclusive collaterals) may be more predisposed to develop airway compromise. The treatment of the lesion should be individualized according to the pathogenic mechanism. We suggest endoluminal treatment in absence of compression by vascular structures while surgery was used in case of extrinsic compression., (© 2015 Wiley Periodicals, Inc.)

Objective: To analyze the effectiveness and the results of the use of a vacuum-assisted closure (VAC) system for the treatment of complex sternal wounds in newborns after cardiac surgery., Methods: From May 2008 until December 2012, six patients developed post-sternotomy wound problems (large defects of epithelialization or mediastinitis), which were treated with a VAC system. Median age at the time of institution of VAC was 24.5 days (range 16 to 65 days). Median time of treatment was 14 days (range 3 to 42 days)., Results: All patients were newborns and all underwent delayed sternal closure after cardiac surgery. The indications for using the VAC system were: mediastinitis in two patients (33.3%) and impairment of healing without signs of infection in four (66.7%). All children after VAC therapy achieved healing of the sternal wound. VAC therapy was started with high negative pressures (-125 mmHg) continuously then switched to an intermittent modality in all patients., Conclusion: VAC system with high negative pressure is safe, effective, and is a well-tolerated therapy in newborns with complex sternal wounds., (© 2014 Wiley Periodicals, Inc.)