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1.
Europace ; 26(5)2024 May 02.
Artículo en Inglés | MEDLINE | ID: mdl-38650062

RESUMEN

AIMS: The extracardiac conduit-Fontan (ECC) has become the preferred technique for univentricular heart palliation, but there are currently no data on the incidence of long-term arrhythmias. This study investigated the incidence of arrhythmias and relation to single ventricle morphology in the long-term follow-up (FU) in ECC. METHODS AND RESULTS: All patients with ECC performed in our Centre between 1987 and 2017 were included (minimum FU 5 years). Of 353 consecutive patients, 303 [57.8% males, aging 8-50 (median 20) years at last FU] were considered and divided into two groups depending on left (194 in Group 1) or right (109 in Group 2) ventricular morphology. Eighty-five (28%) experienced ≥1 arrhythmic complications, with early and late arrhythmias in 17 (5.6%) and 73 (24.1%) patients, respectively. Notably, late bradyarrhythmias occurred after 6 years in 21 (11%) patients in Group 1, and in 15 (13.8%) in Group 2 [P = 0.48]. Late tachyarrhythmias occurred in 55 (18.2%) patients after 12 years: 33 (17%) in Group 1 and 22 (20.2%) patients in Group 2 [P  = 0.5]. Ventricular tachycardias (VT) were documented after 12.5 years in 14 (7.2%) patients of Group 1 and 15 (13.8%) of Group 2 [P = 0.06] with a higher incidence in Group 2 during the FU [P = 0.005]. CONCLUSION: Extracardiac conduit is related to a significant arrhythmic risk in the long-term FU, higher than previously reported. Bradyarrhythmias occur earlier but are less frequent than tachyarrhythmias. Interestingly, patients with systemic right ventricle have a significantly higher incidence of VT, especially in a very long FU.


Asunto(s)
Arritmias Cardíacas , Procedimiento de Fontan , Ventrículos Cardíacos , Humanos , Masculino , Femenino , Procedimiento de Fontan/efectos adversos , Incidencia , Niño , Adolescente , Adulto , Arritmias Cardíacas/epidemiología , Arritmias Cardíacas/fisiopatología , Arritmias Cardíacas/diagnóstico , Persona de Mediana Edad , Adulto Joven , Ventrículos Cardíacos/fisiopatología , Ventrículos Cardíacos/diagnóstico por imagen , Cardiopatías Congénitas/cirugía , Cardiopatías Congénitas/epidemiología , Estudios Retrospectivos , Factores de Tiempo , Corazón Univentricular/cirugía , Corazón Univentricular/epidemiología , Corazón Univentricular/fisiopatología , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Factores de Riesgo
2.
Pediatr Cardiol ; 42(3): 668-675, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33394106

RESUMEN

The aim of the study was to evaluate the medium-term results of aortic valve neocuspidalization according to Ozaki compared to Ross procedure for treatment of isolated aortic valve disease in pediatric age. Thirty-eight consecutive patients with congenital or acquired aortic valve disease underwent either Ozaki (n = 22) or Ross (n = 16) operation between 01/2015 and 05/2020. The primary outcome was progression of aortic valve disease and aortic ring and root dimension, whereas secondary outcome was freedom from reintervention or death by type of operation. Median age was 12.4 (8.8-15.8) years and the prevailing lesion was stenosis in 20 cases (52%) and incompetence in 18 (48%). One death occurred in the Ross group in the early postoperative period, while there were no deaths in the Ozaki group. Effective treatment of aortic valve stenosis or regurgitation occurred in both groups and remained stable over a median follow-up of 18.2 (5-32) months. In Ozaki group, 3 patients required aortic valve replacement at 4.9, 3.5, and 33 months, respectively. In Ross group, 1 patient required Melody pulmonary valve replacement, whereas none required aortic valve surgery. Finally, significantly higher aortic transvalvular gradient at follow-up was recorded in Ozaki group compared to Ross group. Overall, there was no significant difference in freedom from reoperation or death between the two groups. The medium-term outcome of Ozaki and Ross in pediatric patients is similar, despite an increased tendency of the former to develop aortic transvalvular gradient in the follow-up. Future larger multicenter studies with longer follow-up are warranted to confirm these results.


Asunto(s)
Enfermedad de la Válvula Aórtica/cirugía , Procedimientos Quirúrgicos Cardíacos/métodos , Enfermedad de la Válvula Aórtica/patología , Procedimientos Quirúrgicos Cardíacos/efectos adversos , Progresión de la Enfermedad , Femenino , Prótesis Valvulares Cardíacas , Humanos , Lactante , Masculino , Estudios Retrospectivos , Resultado del Tratamiento
3.
Pediatr Cardiol ; 42(7): 1650-1652, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34378100

RESUMEN

We report a unique case of a 6-year-old male child with aborted sudden cardiac death due to ventricular fibrillation. A rare anomalous aortic origin of the right coronary artery was detected and supposed to be the cause of the malignant arrhythmia. Clinical exome sequencing did not reveal any pathogenic variant related to channelopathies nor other known heart-related genes. The patient underwent cardiac surgery and a cardiac defibrillator was implanted for secondary prevention.


Asunto(s)
Paro Cardíaco , Fibrilación Ventricular , Arritmias Cardíacas , Niño , Muerte , Muerte Súbita Cardíaca/etiología , Muerte Súbita Cardíaca/prevención & control , Humanos , Masculino , Fibrilación Ventricular/etiología , Fibrilación Ventricular/terapia
4.
Am J Med Genet A ; 182(6): 1342-1350, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32319738

RESUMEN

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.


Asunto(s)
Síndrome de Down/mortalidad , Defectos de la Almohadilla Endocárdica/mortalidad , Cardiopatías Congénitas/mortalidad , Defectos del Tabique Interatrial/mortalidad , Coartación Aórtica , Niño , Preescolar , Síndrome de Down/complicaciones , Síndrome de Down/patología , Defectos de la Almohadilla Endocárdica/complicaciones , Defectos de la Almohadilla Endocárdica/patología , Femenino , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/patología , Defectos del Tabique Interatrial/complicaciones , Defectos del Tabique Interatrial/patología , Humanos , Masculino , Morbilidad , Estudios Retrospectivos , Factores de Riesgo
5.
Pediatr Cardiol ; 40(8): 1663-1669, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31482236

RESUMEN

Evolving reconstructive techniques have progressively become the preferred approach for treatment of pediatric mitral valve regurgitation. We present our experience in a cohort of patients undergoing surgical correction for severe mitral regurgitation. Fifty-five patients (age 1 month-18 years; median 5 years) were included in the present analysis. Different surgical techniques were used (posterior leaflet augmentation in 25, isolated cleft closure in 12, Alfieri-type procedure in 10, annuloplasty in 5, with artificial chordae in 2, and quadrangular resection with chordal transposition in 1). Follow-up time ranged from 1 to 192 months (median 38[IQR 12-54] months). Operative and follow-up mortality was 0%. Reintervention in the whole population occurred in 31% of patients. However, when first surgery was performed under 2 years of age (no = 17), reintervention reached nearly 50%. The degree of residual mitral regurgitation at follow-up remained stable after surgery, while a significant increase in mean transmitral gradient was observed over time (paired t test = 0.03). In multivariable Cox-regression analysis, post-surgical transmitral gradient was the only independent predictor for reintervention (p = 0.017; HR 2.4; 95%CI 1.2-5.1), after correcting for differences in age at surgery, type of reintervention, mitral annulus dimension, and BSA at the first surgery. ROC curve demonstrated that a post-surgical transmitral mean gradient value > 5 mmHg, was predictive for reintervention (AUC = 0.89; Youden index = 0.44). Our study suggests that the use of conservative technique strategy achieves satisfactory functional results in infants and children with severe MR, although the rate of reoperation in younger patients remains substantial. Post-operative moderate mitral stenosis was the strongest predictor for reoperation.


Asunto(s)
Tratamiento Conservador/métodos , Insuficiencia de la Válvula Mitral/cirugía , Adolescente , Niño , Preescolar , Estudios de Cohortes , Femenino , Humanos , Lactante , Masculino , Estudios Retrospectivos , Resultado del Tratamiento
6.
Am J Med Genet A ; 176(10): 2087-2098, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-29663641

RESUMEN

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.


Asunto(s)
Síndrome de DiGeorge/etiología , Cardiopatías Congénitas/etiología , Enfermedades Cardiovasculares/etiología , Cromosomas Humanos Par 22 , Consejo , Síndrome de DiGeorge/genética , Femenino , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/cirugía , Humanos , Morbilidad , Embarazo , Proteínas de Dominio T Box/genética , Cirugía Torácica/estadística & datos numéricos
7.
Artículo en Inglés | MEDLINE | ID: mdl-29873818

RESUMEN

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/exercise stress demonstrated a physiological increase in the pacing rate with CLS, in synergy with spontaneous events. The accelerometer sensor histogram, during nonmovement stress, showed a "nonresponse" 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.

8.
Pediatr Cardiol ; 39(8): 1590-1597, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29948031

RESUMEN

Atrioventricular Septal Defect (AVSD) is a rare congenital heart defect (CHD) often associated with genetic syndromes, most commonly Down syndrome (DS). Over the last four decades, surgical repair has increased survival and improved quality of life in these patients. The prevalence of bradyarrhythmias namely, atrioventricular block (AVB) and sinus node dysfunction (SND) in AVSD is partially known. 522 cases with both partial and complete AVSD (38.7% with DS), undergoing intracardiac repair from 1982 to 2016 at our institution, were reviewed from our system database. 38 (7.3%) patients received permanent PM implantation for AVB (early or late) or SND. On one hand, AVB requiring PM was found in 26 (4.98%). This was further subdivided into early-onset 14 (2.6%) and late-onset AVB 12 (2.2%) (median 4 [IQR 1-7] years). On the other hand, 12 (2.3%) experienced late SND requiring PM (median 11 [IQR 3.5-15.2] years). Early and late AVB were independent from the type of AVSD (partial or complete), whereas the late SND was remarkably observed in complete AVSD compared to partial AVSD (p = 0.017). We classified the cohort into two main categories: DS (202, 38.7%) and non-DS (320, 61.3%). At Kaplan-Meier survival analysis, DS was significantly associated with late-onset bradyarrhythmias (p = 0.024). At Cox regression analysis, we identified DS as an independent predictor of PM implantation (HR 2.17). In conclusion, about 7% of repaired AVSD patients need PM implantation during follow-up. There are no differences in early and late AVB occurrence according to the type of AVSD. There is a higher incidence of late SND in repaired complete AVSD, with a later timing onset in patients with associated DS. Moreover, DS seems to be an independent predictor of PM implantation.


Asunto(s)
Bloqueo Atrioventricular/etiología , Bradicardia/etiología , Defectos de los Tabiques Cardíacos/cirugía , Síndrome del Seno Enfermo/etiología , Procedimientos Quirúrgicos Vasculares/efectos adversos , Niño , Preescolar , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Defectos de los Tabiques Cardíacos/fisiopatología , Humanos , Lactante , Estimación de Kaplan-Meier , Masculino , Marcapaso Artificial/estadística & datos numéricos , Calidad de Vida , Estudios Retrospectivos , Síndrome del Seno Enfermo/complicaciones , Factores de Tiempo
10.
J Heart Valve Dis ; 24(1): 83-8, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26182624

RESUMEN

BACKGROUND AND AIM OF THE STUDY: The study aim was to analyze the safety and longevity of cryopreserved homografts used for primary right ventricular outflow tract reconstruction (RVOTR), and to compare the outcome using either standard or bicuspidalized allografts. METHODS: Between February 2000 and September 2014, a total of 53 patients underwent primary RVOTR using either a standard (n = 40) or a bicuspidalized (n = 13) cryopreserved homograft. The median age at surgery was 15.5 months (range: 1-419.06 months), and bodyweight was 8.5 kg (range: 4.1-71 kg). The median standard homograft size was 17.5 mm (range: 10-25 mm), while the median bicuspidalized homograft size was 16 mm (range: 14-22 mm). Follow up was complete in 91.4% of patients, with a median duration of 30.11 months (range: 0.26-161.26 months). Data analysis included primary diagnosis, type of surgery, age at surgery, size of conduit, need for reintervention, and survival. Predetermined primary outcomes were represented by survival and freedom from conduit reintervention. RESULTS: Two patients with standard cryopreserved homograft died. during the early postoperative period (3.7%). No deaths were conduit-related. The five-year survival rate and ten-year freedom from reintervention were 91% (range: 74.7-97.2%) and 53.6% (range: 97-33.2%), respectively. RV-PA conduit replacement was performed in 14 patients (26.4%) at a median interval of 44.5 months (range: 14.93-162.46 months). Among these patients, four children (30.7%) received bicuspidalized homografts, and 10 (25%) received standard homografts. Causes of reintervention were conduit stenosis in six cases (43%), severe homograft valve regurgitation in two (14.2%), conduit stenosis and homograft valve regurgitation in two (14.2%), and stenosis of distal anastomosis involving pulmonary bifurcation in four (28.6%). Univariate analyses showed a longer freedom from reintervention for bicuspidalized compared to standard homograft (p = 0.03). CONCLUSION: The results obtained suggested that bicuspidalized homograft performance compares well with that of standard allografts in terms of freedom from reintervention. Bicuspidalized homograft use is strongly indicated for primary RVOTR in small children, when a standard homograft of appropriate size is not available.


Asunto(s)
Aorta/trasplante , Válvula Aórtica/trasplante , Implantación de Prótesis Vascular/instrumentación , Prótesis Vascular , Criopreservación , Cardiopatías Congénitas/cirugía , Implantación de Prótesis de Válvulas Cardíacas/instrumentación , Prótesis Valvulares Cardíacas , Procedimientos de Cirugía Plástica/instrumentación , Obstrucción del Flujo Ventricular Externo/cirugía , Adolescente , Adulto , Aloinjertos , Aorta/fisiopatología , Válvula Aórtica/fisiopatología , Implantación de Prótesis Vascular/efectos adversos , Implantación de Prótesis Vascular/mortalidad , Niño , Preescolar , Supervivencia sin Enfermedad , Femenino , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/mortalidad , Cardiopatías Congénitas/fisiopatología , Implantación de Prótesis de Válvulas Cardíacas/efectos adversos , Implantación de Prótesis de Válvulas Cardíacas/mortalidad , Humanos , Lactante , Recién Nacido , Masculino , Complicaciones Posoperatorias/mortalidad , Complicaciones Posoperatorias/cirugía , Diseño de Prótesis , Procedimientos de Cirugía Plástica/efectos adversos , Procedimientos de Cirugía Plástica/mortalidad , Reoperación , Estudios Retrospectivos , Factores de Riesgo , Análisis de Supervivencia , Factores de Tiempo , Resultado del Tratamiento , Obstrucción del Flujo Ventricular Externo/diagnóstico , Obstrucción del Flujo Ventricular Externo/mortalidad , Obstrucción del Flujo Ventricular Externo/fisiopatología , Adulto Joven
11.
J Card Surg ; 30(5): 453-8, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25810332

RESUMEN

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.


Asunto(s)
Anomalías Múltiples/cirugía , Broncomalacia/etiología , Circulación Colateral , Defectos del Tabique Interventricular/cirugía , Complicaciones Posoperatorias , Atresia Pulmonar/cirugía , Malformaciones Vasculares/cirugía , Aorta/anomalías , Broncomalacia/diagnóstico , Broncomalacia/epidemiología , Broncomalacia/terapia , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Complicaciones Posoperatorias/diagnóstico , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/terapia , Arteria Pulmonar/anomalías
12.
J Card Surg ; 30(2): 190-3, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25363601

RESUMEN

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.


Asunto(s)
Procedimientos Quirúrgicos Cardíacos/métodos , Mediastinitis/terapia , Terapia de Presión Negativa para Heridas/métodos , Complicaciones Posoperatorias/terapia , Esternotomía , Dehiscencia de la Herida Operatoria/terapia , Factores de Edad , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Factores de Tiempo , Resultado del Tratamiento , Cicatrización de Heridas
13.
Cardiol Young ; 25(1): 158-60, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24447774

RESUMEN

An intrapericardial vacuolated mass compressing and displacing the heart was diagnosed by echocardiography in a foetus of 22 weeks gestation. The birth was induced for early signs of foetal distress at 29 weeks and, after two initial pericardial evacuation procedures, the tumour was resected radically 7 days after birth at a weight of 1.55 kg. Mass histology showed teratoma associated with yolk sac tumour. We comment on the overall approach adopted after foetal diagnosis and the histopathological features of the tumour, and try to draw conclusions on patient outcome data.


Asunto(s)
Ecocardiografía , Tumor del Seno Endodérmico/embriología , Enfermedades Fetales/diagnóstico por imagen , Neoplasias Cardíacas/embriología , Pericardio/diagnóstico por imagen , Teratoma/embriología , Ultrasonografía Prenatal/métodos , Diagnóstico Diferencial , Tumor del Seno Endodérmico/diagnóstico por imagen , Femenino , Neoplasias Cardíacas/diagnóstico por imagen , Humanos , Recién Nacido , Pericardio/embriología , Embarazo , Teratoma/diagnóstico por imagen
14.
J Pediatr ; 164(6): 1475-80.e2, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24657119

RESUMEN

OBJECTIVE: To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. STUDY DESIGN: A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. RESULTS: The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations (P = .015) and speech disorders (P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis. CONCLUSIONS: Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.


Asunto(s)
Anomalías Múltiples/diagnóstico , Discapacidades del Desarrollo/epidemiología , Síndrome de DiGeorge/diagnóstico , Progresión de la Enfermedad , Monitoreo Fisiológico/métodos , Anomalías Múltiples/epidemiología , Adolescente , Adulto , Factores de Edad , Niño , Preescolar , Cromosomas Humanos Par 22/genética , Diagnóstico Tardío , Discapacidades del Desarrollo/diagnóstico , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/terapia , Diagnóstico Precoz , Femenino , Estudios de Seguimiento , Pruebas Genéticas , Humanos , Lactante , Recién Nacido , Masculino , Estudios Prospectivos , Estudios Retrospectivos , Medición de Riesgo , Índice de Severidad de la Enfermedad , Factores Sexuales , Factores de Tiempo , Adulto Joven
15.
Pediatr Cardiol ; 35(2): 208-14, 2014 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-23843105

RESUMEN

Bleeding during and after cardiac surgery is a major issue in pediatric patients. A prospective cohort study was conducted to evaluate the effect of a commercially available prothrombin complex (Confidex) administered in cardiac surgery after weaning from cardiopulmonary bypass of infants with nonsurgical bleeding. In this study, 14 patients younger than 1 year received a Confidex bolus and were matched with 11 patients of a similar age who did not receive the drug. The preoperative coagulation profile was similar in the two groups. No side effects, including anaphylaxis or thrombotic events, were observed. The numbers of units of packed red blood cells and fresh frozen plasma administered both intra- and postoperatively were similar. The postoperative coagulation examination results and thromboelastographic parameters did not differ significantly between the two groups. However, the Confidex patients bled significantly less than the control subjects during the first 24 postoperative hours. The median volume of drained blood was 0.0 ml/kg h (range 0-1.9 ml/kg h) compared with 1.9 ml/kg h (range 1-3 ml/kg h) (p = 0.009). At least one unit of packed red blood cells in the postoperative phase was required by 2 patients (14 %) in the Confidex group and six patients (54 %) in the control group (odds ratio [OR], 0.13; 95 % confidence interval [CI], 0.02-0.9; p = 0.03). The median duration of mechanical ventilation was 3 days (range 2-4 days) in the Confidex group and 4 days (range 0-8 days) in the control group (p = 0.66). The median stay in the intensive care unit was 6 days (range 5-9 days) in the Confidex group and 7 days (range 4-12 days) in the control group (p = 0.88). The use of Confidex for infants undergoing cardiac surgery was safe and effective. It reduced postoperative bleeding and allowed fewer units of packed red blood cells to be infused in the postoperative phase without major side effects.


Asunto(s)
Factores de Coagulación Sanguínea/administración & dosificación , Pérdida de Sangre Quirúrgica/prevención & control , Procedimientos Quirúrgicos Cardíacos , Técnicas Hemostáticas , Hemorragia Posoperatoria/prevención & control , Coagulación Sanguínea , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Unidades de Cuidado Intensivo Pediátrico , Masculino , Proyectos Piloto , Hemorragia Posoperatoria/sangre , Estudios Prospectivos , Resultado del Tratamiento
17.
Europace ; 15(9): 1280-6, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23439868

RESUMEN

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.


Asunto(s)
Bloqueo Atrioventricular/mortalidad , Bloqueo Atrioventricular/prevención & control , Estimulación Cardíaca Artificial/mortalidad , Electrodos Implantados/estadística & datos numéricos , Cardiopatías Congénitas/mortalidad , Síndrome del Seno Enfermo/mortalidad , Síndrome del Seno Enfermo/prevención & control , Adolescente , Distribución por Edad , Estimulación Cardíaca Artificial/métodos , Causalidad , Niño , Preescolar , Comorbilidad , Endocardio/cirugía , Femenino , Cardiopatías Congénitas/rehabilitación , Humanos , Lactante , Recién Nacido , Italia/epidemiología , Masculino , Pericardio/cirugía , Prevalencia , Implantación de Prótesis/mortalidad , Estudios Retrospectivos , Factores de Riesgo , Distribución por Sexo , Tasa de Supervivencia , Resultado del Tratamiento , Adulto Joven
18.
Pediatr Crit Care Med ; 14(4): 390-5, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-23548961

RESUMEN

OBJECTIVE: Modified ultrafiltration is commonly used in pediatric cardiac surgery. Although its clinical benefits are currently debated, modified ultrafiltration has proved to improve mean arterial pressure in the first postoperative hours. Aim of our study was to measure cardiac index, stroke volume index, and mean arterial pressure modification before and after modified ultrafiltration by means of Pressure Recording Analytical Method. DESIGN: Single-center prospective observational cohort study. SETTING: Pediatric cardiac surgery operating room. PATIENTS: Children below 20 kg that are included in the "pediatric" mode of Pressure Recording Analytical Method. MEASUREMENTS AND MAIN RESULTS: Forty patients were enrolled in this study. Median age, weight, and body surface area at surgery were 3 months (interquartile range, 10 days to 3.5 yr), 5.6 (3.1-15) kg, and 0.31 (0.21-0.56), respectively. During the modified ultrafiltration procedure, a median volume of 17 mL/kg (11-25) was ultrafiltered and a median volume of 11 mL/kg (6-17) was reinfused with a median final modified ultrafiltration balance of -0.15 mL/kg (-4.0 to 0.1). By univariate analyses, there was a 10% increase in postmodified ultrafiltration mean, systolic and diastolic pressures (p = 0.01), stroke volume index (p = 0.02), and cardiac index (p = 0.001) without significant changes in heart rate, central (left and right) venous pressures, stroke volume variation, and inotropic score. By multivariate analysis, when controlling for cardiopulmonary bypass time and age at surgery, cardiac index variation was independently associated with lower preoperative body surface area (beta coefficient -5.5, p = 0.04). CONCLUSIONS: According to Pressure Recording Analytical Method assessment, modified ultrafiltration acutely improves myocardial function, as shown by a 10% increase of systemic arterial pressure, stroke volume index, and cardiac index. This effect is more pronounced in smaller sized patients.


Asunto(s)
Presión Arterial , Cardiopatías Congénitas/cirugía , Hemofiltración/métodos , Volumen Sistólico , Superficie Corporal , Puente Cardiopulmonar/métodos , Preescolar , Frecuencia Cardíaca , Humanos , Lactante , Recién Nacido , Temperatura
19.
Front Pediatr ; 11: 1227819, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37547103

RESUMEN

Background: Aortic arch malformations (AAMs) should be suspected in the presence of persistent respiratory symptoms despite medical treatment or feeding problems at the pediatric age. Aim: We report a descriptive cohort of patients with AAMs and the local management protocol applied. Methods: A total of 59 patients with AAM were retrospectively reviewed. Three groups were identified: double aortic arch (DAA), group 1; complete vascular ring (non-DAA), group 2; and anomalous origin of the innominate artery (IA), group 3. Results: Prenatal diagnosis was available for 62.7% of the patients. In all, 49.2% of children were symptomatic. There was a significantly different prevalence of respiratory symptoms within the three groups: 73.7% in group 1, 24.2% in group 2, and 100% in group 3 (p-value: <0.001). Surgery was considered in the presence of symptoms in patients with DAA and in those with reduction of the tracheal section area greater than 50%. A total of 52.5% of the patients underwent surgical repair (median age 6 months). The median follow-up interval was 21.9 months. Respiratory symptoms improved in most symptomatic patients. Conclusions: No specific protocols are available for the management of patients with AAMs. Conservative treatment seems to be reasonable for asymptomatic patients or those with airway stenosis less than 50%. A close follow-up is necessary to identify early patients who become symptomatic.

20.
Front Pediatr ; 11: 1215928, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37465418

RESUMEN

Constrictive pericarditis is a chronic inflammatory process that can lead to heart failure if not diagnosed and treated correctly. Although Epstein-Barr virus (EBV)-related pericarditis is a very rare condition, it should still be considered for a differential diagnosis. We report the case of an 18-year-old male, who was surgically treated for constrictive pericarditis, in which in situ hybridization to Epstein-Barr virus-encoded RNA (EBER) probe of the excised pericardium led to the subsequent etiological diagnosis of chronic pericarditis caused by EBV.

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