Lymphomonocytic inflammatory infiltrate with numerous eosinophilic granulocytes in the interstitium in a surviving heart transplant recipient: a case report.

Findings of eosinophilic and lymphomonocytic inflammatory infiltrates in endomyocardial biopsies (EMBs) may help in myocardial disease diagnosis identification. Eosinophilic myocarditis (EM), a rare condition, is fatal if left untreated and has rarely been described in heart transplant recipients. An extensive work up is necessary to achieve an early etiological diagnosis; however, the underlying cause remains unexplained in nearly one-third of the patients. The cornerstone of treatment is corticosteroids, comprehensive therapy and heart failure management (including advanced mechanical support for fulminant myocarditis). We have described the case of a 17-year-old heart transplant recipient who presented with a cardiogenic shock. He was admitted to our intensive care unit and treated with inotropic drugs, such as milrinone, adrenaline, vasopressin, and levosimendan; the doses of these drugs were in accordance with our internal protocol. The patient underwent cardiac catheterization, coronarography, and right ventricular EMB. EMB revealed inflammatory lymphomonocytic and eosinophil granulocyte infiltrates; thus, steroid therapy was initiated, with complete recovery achieved after 15 days. Performing an early differential diagnosis among eosinophilic infiltration, acute cellular rejection (ACR), and possible chemotherapeutic damage is emerging as an important challenge. To our knowledge, this is the first reported case of a lymphomonocytic inflammatory infiltration with numerous eosinophilic granulocytes in the interstitium in a surviving heart transplant recipient.

Use of a Pediatric Syncope Unit Improves Diagnosis and Lowers Costs: A Hospital-Based Experience.

OBJECTIVES: To assess the effect of a dedicated pediatric syncope unit on the diagnostic and therapeutic management of children with suspected syncope. We also evaluated the effectiveness of the pediatric syncope unit model in decreasing unnecessary tests and hospitalizations, minimizing social costs, and improving diagnostic yield. STUDY DESIGN: This single-center cohort observational, prospective study enrolled 2278 consecutive children referred to Bambino Gesù Children's Hospital from 2012 to 2017. Characteristics of the study population, number and type of admission examinations, and diagnostic findings before the pediatric syncope unit was implemented (2012-2013) and after the pediatric syncope unit was implemented (2014-2015 and 2016-2017) were compared. RESULTS: The proportion of undefined syncope, number of unnecessary diagnostic tests performed, and number of hospital stay days decreased significantly (P < .0001), with an overall decrease in costs. A multivariable logistic regression analysis, adjusted for confounding variables (age, sex, number of diagnostic tests), the period after pediatric syncope unit (2016-2017) resulted as the best independent predictor of effectiveness for a defined diagnosis of syncope (P < .0001). CONCLUSIONS: Pediatric syncope unit organization with fast-tracking access more appropriate diagnostic tests is effective in terms of accuracy of diagnostic yield and reduction of costs.

What endocardial right ventricular pacing site shows better contractility and synchrony in children and adolescents?

AIMS: Right ventricular (RV) apical (RVA) pacing can induce left ventricular (LV) dyssynchrony, remodeling, and dysfunction in children with complete atrioventricular block (CAVB). We compared the functional outcome of RVA with RV alternative pacing sites (RVAPS), including para-Hisian, septal, and outflow tract sites. METHODS: This is a single-center, retrospective study. Data were collected before pacemaker implantation (transvenous leads), postoperatively, at 6 months, and at 1-2-3-4 years. Electrocardiogram evaluation included QRS duration, axis, QTc/JTc, and QTc dispersion. Echocardiographic evaluation included 2-D/3-D assessment of ventricular dimensions (Z-score of LV end-diastolic dimension), function (ejection fraction), and synchrony. RESULTS: From 2009 to 2015, 55 patients with CAVB, aged 3-17 years, with or without other congenital heart defects, underwent RVAPS (30 patients, median age 11 years) or RVA (25 patients, median 12 years). All leads were positioned into the septum. Before implantation, no significant differences in parameters were observed, except for higher Z-score in RVAPS than in RVA. After implantation, at a median follow-up of 2.5 (range 1-6) years, the two groups showed no significant differences in LV dimensions, contractility, and synchrony. QRS intervals of RVAPS were significantly shorter than RVA. Clinical status was good and contractility/synchrony indexes were normal or adequate in all patients. CONCLUSIONS: In pediatric patients, RVAPS and RVA showed no significant differences in LV dimensions, contractility, and synchrony. Preimplantation dilated patients showed LV reverse remodeling. RVAPS demonstrated shorter QRS intervals. Therefore, septal pacing sites, either RVA or RVAPS, seem to determine good contractility and synchrony at a mid-term follow-up.

Radiofrequency catheter ablation of left-sided accessory pathways in children using a new fluoroscopy integrated 3D-mapping system.

Introduction: Advances in 3D electroanatomic-mapping technologies have resulted in a safe and effective profile of radiofrequency (RF) catheter ablation. The aim of this study was to evaluate a different catheter ablation approach in patients with left-sided accessory pathways (APs). Methods and results: From January 2015 to December 2015, 30 patients (median age 11 years, median weight 45 kg) with manifest or concealed left-sided APs underwent RF catheter ablation with a new protocol. All procedures were performed with the CARTO UNIVU™ system, integrating electroanatomic maps with fluoroscopic views. A 7 Fr ablation catheter was inserted into the right femoral vein and advanced into the right atrium. Geometrical reconstruction and activation map of the right atrium, tricuspid annulus, and coronary sinus were acquired. The ablation catheter was then inserted into the left femoral artery and advanced through the aorta and aortic valve, creating an activation map of the mitral annulus. Catheter ablation was targeted to the site of the earliest activation. No complications occurred. The median procedure and fluoroscopy times were 130 min and 6 s, with a median fluoroscopy dose 0.5 mGy. An average of two catheters was used. Long-term success rate was 97% (29/30) at a median follow-up of 9.6 months. This approach reduced fluoroscopy time, dose and number of catheters used compared with manifest or concealed left-sided AP ablation using CARTO 3™ (P < 0.05). Conclusions: This new ablation protocol seems to be promising in reducing fluoroscopy exposure and number of catheters used during left-sided AP ablation in children.

What factors influence parents' perception of the quality of life of children and adolescents with neurocardiogenic syncope?

BACKGROUND: Health-related quality of life, which can be investigated using self-reports or parental reports, could help healthcare providers understand the subjective perception of well-being of children suffering from recurrent syncopal episodes. Quality of life is not only a measure of health but is also a reflection of patients' and parents' perceptions and expectations of health. This study assessed: 1) the consistency and agreement between pediatric patients' self-reports and parents' proxy-reports of their child's quality of life; 2) whether this patient-parent agreement is dependent on additional demographic and clinical or distress factors; 3) whether the parents' psychological distress influences children's and parents' responses to questionnaires on quality of life. METHODS: One hundred and twenty-five Italian children aged 6-18 years old (Mean age 12.75, SD 2.73, 48 % female) and their parents completed the Pediatric Quality of Life inventory with self-reports and parent-proxy reports, the Parenting Stress Index - Short Form questionnaire and the Child Behavior Checklist for ages 6-18. Patients' and parents' scores on quality of life were analyzed via an intra-class correlation coefficient, Spearman's correlation coefficient, Wilcoxon signed-rank test, and Bland-Altman plot. RESULTS: Child-rated quality of life was lower than parent-rated quality of life. However, there were no statistically significant differences between pediatric patients' self-reports and their parents' proxy-reports of on quality of life. Clinically significant patient-parent variation in pediatric health-related quality of life was observed. Differences in patient-parent proxy Pediatric Quality of Life inventory Total Scale Score scores were significantly associated with patient age. CONCLUSION: Concerning parents' proxy-ratings of their children's quality of life on the Pediatric Quality of Life inventory, parental stress was found to be negatively associated with their perceptions of their child's psychological quality of life. Indeed, childhood illness is a source of stress for the whole family, and exposes family members to a greater risk of developing psychosocial difficulties. In conclusion, this study invites reflection on the use of cross-informants in investigating the quality of life of young patients with neurocardiogenic syncope and the psychological factors that influence how quality of life is perceived.

Miniaturized Implantable Loop Recorder in Small Patients: An Effective Approach to the Evaluation of Subjects at Risk of Sudden Death.

BACKGROUND: The etiological diagnosis of syncope and/or palpitations in children is often challenging. However, when noninvasive conventional examinations are inconclusive, the subcutaneous miniaturized implantable loop recorder (ILR) is recommended. The aim of our study was to evaluate the efficacy of miniaturized cardiac implantable devices in the early diagnosis of arrhythmias in children ≤6 years. METHODS: From March 2014 to May 2015, 21 patients (median age 5 years) underwent implantation of miniaturized ILR at our Institution after a complete cardiac work up. Median follow-up was 10 months. RESULTS: One patient underwent device removal for pocket infection and one needed a pocket revision. Eleven (52%) patients did not show any symptom and/or arrhythmia. Eight patients experienced symptoms during ILR monitoring: six had no electrocardiographic abnormalities, two had significant sinus pauses. Two patients had significant arrhythmias without symptoms and in one of these a pacemaker was implanted. The overall diagnostic yield was 47%. CONCLUSIONS: Miniaturized ILR could be very useful to make a diagnosis and to decide future management strategies in small patients with undefined symptoms or severe cardiac diseases. Considering its characteristics, miniaturized ILR could start a new era in the diagnosis and follow-up of young patients with symptomatic and/or malignant arrhythmias.

Results of remote follow-up and monitoring in young patients with cardiac implantable electronic devices.

BACKGROUND: Remote monitoring is increasingly used in the follow-up of patients with cardiac implantable electronic devices. Data on paediatric populations are still lacking. The aim of our study was to follow-up young patients both in-hospital and remotely to enhance device surveillance. METHODS: This is an observational registry collecting data on consecutive patients followed-up with the CareLink system. Inclusion criteria were a Medtronic device implanted and patient's willingness to receive CareLink. Patients were stratified according to age and presence of congenital/structural heart defects (CHD). RESULTS: A total of 221 patients with a device - 200 pacemakers, 19 implantable cardioverter defibrillators, and two loop recorders--were enrolled (median age of 17 years, range 1-40); 58% of patients were younger than 18 years of age and 73% had CHD. During a follow-up of 12 months (range 4-18), 1361 transmissions (8.9% unscheduled) were reviewed by technicians. Time for review was 6 ± 2 minutes (mean ± standard deviation). Missed transmissions were 10.1%. Events were documented in 45% of transmissions, with 2.7% yellow alerts and 0.6% red alerts sent by wireless devices. No significant differences were found in transmission results according to age or presence of CHD. Physicians reviewed 6.3% of transmissions, 29 patients were contacted by phone, and 12 patients underwent unscheduled in-hospital visits. The event recognition with remote monitoring occurred 76 days (range 16-150) earlier than the next scheduled in-office follow-up. CONCLUSIONS: Remote follow-up/monitoring with the CareLink system is useful to enhance device surveillance in young patients. The majority of events were not clinically relevant, and the remaining led to timely management of problems.

Comparison of cryoablation with 3D mapping versus conventional mapping for the treatment of atrioventricular re-entrant tachycardia and right-sided paraseptal accessory pathways.

UNLABELLED: Aim Transcatheter cryoablation is a well-established technique for the treatment of atrioventricular nodal re-entry tachycardia and atrioventricular re-entry tachycardia in children. Fluoroscopy or three-dimensional mapping systems can be used to perform the ablation procedure. The aim of this study was to compare the success rate of cryoablation procedures for the treatment of right septal accessory pathways and atrioventricular nodal re-entry circuits in children using conventional or three-dimensional mapping and to evaluate whether three-dimensional mapping was associated with reduced patient radiation dose compared with traditional mapping. METHODS: In 2013, 81 children underwent transcatheter cryoablation at our institution, using conventional mapping in 41 children - 32 atrioventricular nodal re-entry tachycardia and nine atrioventricular re-entry tachycardia - and three-dimensional mapping in 40 children - 24 atrioventricular nodal re-entry tachycardia and 16 atrioventricular re-entry tachycardia. RESULTS: Using conventional mapping, the overall success rate was 78.1 and 66.7% in patients with atrioventricular nodal re-entry tachycardia or atrioventricular re-entry tachycardia, respectively. Using three-dimensional mapping, the overall success rate was 91.6 and 75%, respectively (p=ns). The use of three-dimensional mapping was associated with a reduction in cumulative air kerma and cumulative air kerma-area product of 76.4 and 67.3%, respectively (p<0.05). CONCLUSIONS: The use of three-dimensional mapping compared with the conventional fluoroscopy-guided method for cryoablation of right septal accessory pathways and atrioventricular nodal re-entry circuits in children was associated with a significant reduction in patient radiation dose without an increase in success rate.

Preexcitación ventricular: los niños sintomáticos y asintomáticos tienen el mismo riesgo potencial de muerte cardíaca súbita

Objetivos: los niños y adolescentes con preexcitación ventricular (PV) tienen un mayor riesgo de muerte súbita cardíaca (MSC). Si bien la terapia antiarrítmica y la ablación por catéter son tratamientos temporales o definitivos bien establecidos para los pacientes con síndrome de Wolff-Parkinson-White (WPW), aún no hay acuerdo acerca del manejo óptimo de los niños con PV asintomática. Teniendo en cuenta las directrices y recomendaciones más recientes, el objetivo de este estudio fue determinar las características electrofisiológicas de los pacientes jóvenes con PV y síndrome de WPW, con el fin de valorar y comparar su riesgo potencial de MSC. Métodos y resultados: se realizó un estudio retrospectivo de 124 pacientes jóvenes consecutivos con PV (51 con síndrome de WPW y 73 asintomáticos) sometidos a un estudio electrofisiológico transesofágico. En condiciones basales se indujo una taquicardia por reentrada auriculoventricular (TRAV) en 13 pacientes con WPW vs 10 pacientes asintomáticos (25,5% vs 13,7%, p=NS). Se indujo fibrilación auricular (FA) en 13 pacientes con WPW vs 15 pacientes asintomáticos (25,5% vs 20,5%, p=NS). Se encontró un intervalo R-R preexcitado más corto (IRRPEC o SPERRI, por sus siglas en inglés) £ 250 ms durante la FA en cuatro pacientes con WPW vs seis pacientes asintomáticos (30,8% vs 40%, p=NS). Durante la infusión de isoproterenol o la prueba de esfuerzo, se indujo TRAV en 31 de 44 pacientes con WPW vs 33 de 69 pacientes asintomáticos (70,4% vs 47,8%, p=0,018). Se indujo fibrilación auricular en 12 de 44 pacientes con WPW vs 21 de 69 pacientes asintomáticos (27,3% vs 30,4%, p=NS). Se encontró un IRRPEC £ 210 ms en 6 de 12 pacientes con WPW vs 10 de 21 pacientes asintomáticos (50% vs 476%, p=NS). No se observó ninguna correlación estadísticamente significativa entre la ubicación de la vía accesoria y los síntomas, inducibilidad de TRAV/FA, o media de período refractario de la vía accesoria (PREVA)/IRRPEC. Conclusión: los niños y adolescentes con síndrome de WPW tienen una mayor tasa de inducibilidad de TRAV que los pacientes asintomáticos. Sin embargo, no se encontraron diferencias entre los dos grupos en cuanto a la vulnerabilidad auricular y a los parámetros relacionados con el riesgo de MSC.

Ventricular pre-excitation: symptomatic and asymptomatic children have the same potential risk of sudden cardiac death.

AIMS: Children and adolescents with ventricular pre-excitation (VPE) are at increased risk for sudden cardiac death (SCD). Although antiarrhythmic therapy and catheter ablation are well established temporary or definitive treatments for patients with Wolff-Parkinson-White (WPW) syndrome, the optimal management of children with asymptomatic VPE remains to be clearly defined. On the basis of the most recent guidelines and recommendations, the aim of this study was to determine the electrophysiological characteristics of young patients with VPE and WPW syndrome to assess and compare their potential risk of SCD. METHODS AND RESULTS: We retrospectively investigated 124 consecutive young patients with VPE (51 with WPW syndrome and 73 asymptomatic) who underwent transoesophageal electrophysiological study. At baseline, atrioventricular reentrant tachycardia (AVRT) was induced in 13 WPW vs. 10 asymptomatic patients (25.5 vs. 13.7%, P = NS). Atrial fibrillation (AF) was induced in 13 WPW vs. 15 asymptomatic patients (25.5 vs. 20.5%, P = NS). A shortest pre-excited R-R interval (SPERRI) ≤250 ms during AF was found in four WPW vs. six asymptomatic patients (30.8 vs. 40%, P = NS). During isoproterenol infusion or stress testing, AVRT was induced in 31 of 44 WPW vs. 33 of 69 asymptomatic patients (70.4 vs. 47.8%, P = 0.018). Atrial fibrillation was induced in 12 of 44 WPW vs. 21 of 69 asymptomatic patients (27.3 vs. 30.4%, P = NS). A SPERRI ≤ 210 ms was found in 6 of 12 WPW vs. 10 of 21 asymptomatic patients (50 vs. 47.6%, P = NS). No statistically significant correlation was observed between accessory pathway location and symptoms, AVRT/AF inducibility, or mean APERP/SPERRI values. CONCLUSION: Children and adolescents with WPW syndrome have a higher rate of AVRT inducibility than asymptomatic patients. However, no differences between the two groups were found in atrial vulnerability and parameters related to the risk of SCD.

Left ventricular pacing in neonates and infants with isolated congenital complete or advanced atrioventricular block: short- and medium-term outcome.

AIMS: Right ventricular (RV) pacing may induce left ventricular (LV) dysfunction: neonates and infants with isolated congenital complete/advanced atrioventricular block (CCAVB) are at high risk of developing RV pacing-induced LV dyssynchrony, remodelling, and dysfunction. We prospectively investigated whether LV pacing results in normal LV function and good clinical status in the short/medium term. METHODS AND RESULTS: In this single-centre, prospective study, 10 consecutive patients with CCAVB (median age 4 months, range: 0.1-16) underwent pacemaker implantation (4 VVIR, 6 DDD) using epicardial leads (on the LV apex in 8, on the LV free wall in 2). Data were collected at implantation and at 1- and 12-month follow-up. Echocardiographic evaluation included two-dimensional/three-dimensional assessment of LV dimensions, function (ejection fraction, EF), and ventricular synchrony (interventricular and intraventricular dyssynchrony). Prior to pacemaker implantation, EF was normal in six patients, 50% in two, ≤40% in two. All patients showed good clinical status and normal LV dimensions at follow-up. Patients with LV dilatation and impaired EF at implantation showed LV reverse remodelling and enhanced LV function. Normal LV function and synchrony were observed in most patients (one patient with EF 53% and three patients with mild dyssynchrony at 12-month follow-up). Paced QRS complex tended to be wider than native QRS complexes (P = 0.07); QTc duration of paced complexes was within normal limits or only slightly prolonged, without significant differences compared with QTc interval of native complexes. CONCLUSION: At short- and medium-term follow-up, LV pacing results in satisfactory LV electromechanical function and synchrony in neonates and infants with CCAVB.

[Psychological profile of children with neurogenic syncope]. / Profilo psicologico del bambino con sincope neuromediata.

At present, syncope is still a matter of great concern and anxiety for both parents and children. Neurocardiogenic syncope is the most common type of syncope in children with an incidence of 70%. It usually has a benign etiology, with rapid loss of consciousness and spontaneous resolution. In case of neurocardiogenic syncope, it is important to assess the emotional and/or adaptive capacity of the patient. From a psychological point of view, the presence of a traumatic area of development has been reported in pediatric patients with syncope. This area is characterized by symptoms of anxiety and/or depression, self-withdrawal, somatic complaints and dissociation. Neurocardiogenic syncope in pediatric age can be the expression of a psychosomatic disorder underlying psychopathological vulnerability.

Cryoablation of AVNRT in children and adolescents: early intervention leads to a better outcome.

INTRODUCTION: Currently, transcatheter cryoablation is a well-established technique for the treatment of atrioventricular nodal reentry tachycardia (AVNRT) in children. In the past decade, many studies have focused on identifying factors that may affect acute and long-term outcome, but none has been shown to be strongly predictive of treatment success. The aim of our study was to determine whether patient age and cryoablation method correlate with acute and long-term success. METHODS AND RESULTS: We retrospectively reviewed 202 consecutive patients (98 male, mean age 11.5 years; range: 4-20 years) who underwent cryoablation for AVNRT at our institution from October 2002 to August 2012. Patients were divided into 2 groups according to age: group A <12 years (n = 101) and group B ≥12 years (n = 101). A single lesion or linear lesion technique was employed. A total of 217 cryoablation procedures were performed: 106 (49%) in group A and 111 (51%) in group B. All patients were evaluated in our postoperative follow-up program. The overall recurrence rate was 10.9% (22/202). AVNRT recurrence was significantly lower in group A than in group B (4.95% vs 16.8%, P = 0.000). No significant differences in recurrence rate were observed between groups when using the single lesion versus linear lesion technique. There were no permanent cryoablation-related complications. CONCLUSION: Our findings show that cryoablation had no complications and a very good success rate. Type of cryolesion is not predictive of long-term success, whereas lower recurrence rate is achieved when cryoablation is performed at a younger age.

Percutaneous axillary vein approach in pediatric pacing: comparison with subclavian vein approach.

AIMS: The subclavian vein approach has been used for 20 years in our center for pacemaker (PM) implantation in children, but it carries risks of hemothorax/pneumothorax and lead fracture, which could be reduced by axillary vein approach. METHODS AND RESULTS: This is a prospective study enrolling the first 48 consecutive pediatric patients (age: 12.3 ± 4.6 years) who underwent PM/implantable cardioverter-defibrillator leads implantation through axillary vein (guided by contrast venography) between 2009 and 2012 (group I). A comparison was made with the outcomes of the subclavian vein approach (group II) in 41 patients, age 12.3 ± 4.8 years, consecutively enrolled between 2006 and 2011. The two groups showed no significant differences for the variables examined except for follow-up, longer in group II, and for alternative ventricular pacing sites, more frequent in group I. Axillary vein diameter was 7.9 ± 1.7 mm and showed positive correlation with height (r = 0.77). The axillary vein approach was effective in 93.7% of patients. The unsuccessful procedures occurred in patients with significantly lower age and smaller venous diameters. The subclavian vein approach was effective in 100% of patients. Sixty-two leads were implanted in group I, 54 in group II. There were neither intraoperative complications in both the groups, nor significant differences for early and late complications. CONCLUSIONS: The axillary vein approach for PM implantation in children is effective and safe for physicians skilled with subclavian vein approach. Younger patients with smaller vein diameters are at low risk for unsuccessful procedure.

Cryoablation of right-sided accessory pathways in children: report of efficacy and safety after 10-year experience and follow-up.

AIMS: The aim of this study was to report the 10-year experience of our Institution in cryoablation of supraventricular tachycardia due to a right accessory pathway (AP). METHODS AND RESULTS: Seventy-one cryoablations of right AP were performed between July 2002 and October 2011 in our Institution in 66 patients (mean age 12 + 3 years, 56% males). Acute procedural success rate was 97%: 80% in patients with concealed AP and 100% in those with manifest AP (P < 0.05). Acute procedural success rate was not related to institutional experience. No permanent complication occurred. Sixteen patients had recurrences during the follow-up (18.6 ± 6.6 months; range 3-111), 13 within the first month of follow-up, 2 within the 6 months of follow-up, and 1 within 12 months of follow-up. Cox regression showed that sex, patient age, number of delivered cryo-bonus, and presence of manifest or concealed AP are not independent predictors of procedural success. Among the 16 patients with recurrences, in 10 a cryoablation redo was successful and with no further AP recurrences. The mean fluoroscopy time was 28.4 min (range 19.7-44.6) with a significant decrease (P = 0.033) in relation to the increase of the institutional experience. There were no permanent ablation-related complications. CONCLUSION: Cryoablation of right-sided AP is effective and very safe in children. Better results are achieved in manifest AP. The learning curve has a real impact in the attempt to reduce the fluoroscopy time.

Cardiac pacing in paediatric patients with congenital heart defects: transvenous or epicardial?

AIMS: Cardiac pacing is a difficult technique in children, particularly in patients with congenital heart defects (CHDs). Few studies to date have addressed this topic. METHODS AND RESULTS: We performed a retrospective analysis of the results of a single centre. Between 1982 and 2008, 287 patients with CHD, median age of 5 years (25-75%, 1-11) underwent cardiac pacing for sinus node dysfunction (SND) and atrioventricular block (AVB); 97% of patients underwent at least one heart surgery. Endocardial systems (Endo) were implanted in 117 patients, epicardial systems (Epi) in 170, with 595 leads (228 Endo, 367 Epi). Endocardial systems showed a significantly older age group with more frequent SND; Epi a younger age group, with more frequent AVB, greater number of surgical interventions. Perioperative complications were mortality 0.6% (Epi), pericardial effusion 0.6% (Epi), and haemothorax 3.4% (Endo). The median follow-up is 5 (2-10) years: the pacing system failed in 29% of patients, 13% Endo, and 40% Epi (P < 0.0001). Multivariate analysis showed a significantly higher risk of failure for Epi, a lower implant age, greater the number of leads implanted. The risk of malfunction of the leads increases significantly for Epi and the younger age when implanted. The steroid-eluting leads have a lower risk of malfunction (P = 0.05), steroid-eluting Endo leads provide significantly better outcomes than Epi. CONCLUSION: Cardiac pacing in paediatric patients with CHD shows satisfactory results in the long term. Endocardial systems show significantly better results than Epi systems. A younger age when implanted is a risk factor for complications at follow-up.

Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother.

AIM/OBJECTIVE: Several studies have demonstrated a significantly increased risk of specific patterns of congenital anomalies in infants born to diabetic mothers. In particular, caudal dysplasia sequence has been linked to pregnancy complicated by maternal diabetes. In addition, several cases of infants born to diabetic mothers presenting with features of DiGeorge anomaly have been reported. Infants with DiGeorge anomaly can display additional manifestations within the spectrum of caudal dysplasia sequence, including vertebral anomalies and renal agenesis. METHODS: We report a neonate presenting with the co-occurrence of features of both DiGeorge anomaly and caudal dysplasia sequence, born to a mother with poorly controlled insulin-dependent diabetes. RESULTS: The patient was affected by truncus arteriosus type A1 and hypertrophic cardiomyopathy. CONCLUSION: Maternal diabetes can cause a spectrum of manifestations, expressing with isolated DiGeorge anomaly or caudal dysplasia sequence, with intermediate phenotypes or with the co-occurrence of both the congenital anomalies in the same patient. The present observations argue for a feasible link between truncus arteriosus with hypertrophic cardiomyopathy, DiGeorge anomaly, and maternal diabetes.

Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects.

OBJECTIVE: Genetic syndromes occur in more than 20% of patients with conotruncal heart defects. We investigated the impact of genetic syndromes on the surgical outcome of conotruncal anomalies in infancy. METHODS: This retrospective study reviews the outcome of 787 patients (median age 6.3 months) who underwent primary (598) or staged (189) repair of a conotruncal defect between 1992 and 2007. RESULTS: Proven genetic syndrome was diagnosed in 211 patients (26.8%), including del22q11 (91 patients), trisomy 21 (29 patients), VACTERL (18 patients), and other syndromes (73 patients). Primary repair was accomplished in 80.9% of nonsyndromic patients and 74.4% of syndromic patients (P = .18) Fifteen-year cumulative survival was 84.3% +/- 2.3% in nonsyndromic patients and 73.2% +/- 4.2% in syndromic patients (P < .001). Primary and staged repair allowed similar 15-year survival (81.4% +/- 4.5% vs 79.1% +/- 5.1%, P = .8). Freedom from noncardiac cause of death was significantly lower in syndromic patients (P = .0056). Fifteen-year Kaplan-Meier survival was 87.6% +/- 3.9% for del22q11, 95.8% +/- 4.1% for trisomy 21, 56.8% +/- 6.3% for VACTERL, and 62.3% +/- 12.7% for patients with other syndromes (P = .022). Total intensive care unit stay was 10.8 +/- 4.9 days in syndromic patients and 5.1 +/- 1.7 days in nonsyndromic patients (P < .001). Freedom from reintervention 15 years after repair was 79.6% +/- 4.9% in nonsyndromic patients and 62.4% +/- 7.4% in syndromic patients (P = .007). CONCLUSION: Del22q11 and trisomy 21 do not represent risk factors for mortality after repair of conotruncal anomalies, whereas other syndromes adversely affect the surgical outcome for predominant noncardiac attrition. Higher morbidity and lower mid-term freedom from reintervention can be predicted in syndromic patients.

Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications.

Congenital heart defects (CHDs) are the most common birth defects in humans and over the last 20 years significant progress has been made in the understanding of the molecular and genetic determinants of an increasing number of CHDs. Fundamental to this progress has been the contribution of five fields of research: the epidemiological results of the Baltimore-Washington Infant Study (BWIS); the pathogenetic classification introduced by Clark; the Human Genome Project; genotype-phenotype correlation and familial recurrence studies; and transgenic animals. The recently advanced cytogenetic techniques can now detect subtle rearrangements in chromosomes, which may be overlooked by standard methods and, more recently, molecular instruments such as linkage analysis and positional cloning are being used to identify genes causing Mendelian monogenic syndromes with CHDs, such as Holt-Oram, Ellis-van Creveld and Noonan/LEOPARD syndromes. Finally, useful information is yet available with regard to genes causing isolated CHDs in individuals who do not have a genetic syndrome (an example is the mutation of NKX2.5 and GATA4 genes causing atrial septal defect). The future perspectives for the genetics of CHDs will involve three fields of interest: diagnosis; therapy; and prognosis.