Ornella Milanesi

Melody transcatheter pulmonary valve implantation. Results from the registry of the Italian society of pediatric cardiology

Percutaneous implantation of pulmonary valve has been recently introduced in the clinical practice. Our aim was to analyze data of patients treated in Italy by using the Melody Medtronic valve.

Liver and Cardiac Function in the Long Term After Fontan Operation

BACKGROUND Patients who underwent Fontan operation have some degree of liver disease. We aimed to assess the long-term liver and cardiac function after Fontan operation. METHODS Patients enrolled underwent physical examination, biochemical tests (aspartate aminotransferase, alanine aminotransferase, gamma glutamyl transpeptidase, bilirubin, international normalized ratio, coagulation factor V, protein profile, fecal alpha-1-antitrypsin), echocardiogram, and liver ultrasonography. A liver disease score was adopted to compare the degree of liver involvement with hemodynamic features. RESULTS The study enrolled 34 patients, median age 14.7 years (range, 4.1 to 26.7), 26 with a residual left ventricle, 8 with a residual right ventricle, affected by tricuspid atresia (17), pulmonary atresia (4), hypoplastic left heart syndrome (5), double-outlet right ventricle (2), single left ventricle (2), and miscellaneous (4), with median follow-up of 11.5 years (range, 1.7 to 23.3). We found hepatomegaly in 18 of 34 (53%), splenomegaly in 3 of 33 (9%), abnormal transaminases in 10 of 33 (30%), elevated gamma GT in 19 of 31 (61%), elevated bilirubin in 10 of 31 (32%), coagulopathy in 17 of 29 (58%), and protein-losing enteropathy in 4 of 21 (19%). Median heart rate z-score was -1.72. Hepatic dysfunction was strictly correlated to low cardiac index (r(2) = 0.34, p = 0.008) and to a lesser extent to reduced heart rate (r(2) = 0.18, p = 0.07). CONCLUSIONS In children who underwent Fontan operation, hepatic dysfunction is correlated with low cardiac index and reduced heart rate. Maintaining or reestablishing a normal cardiac index might prevent or reduce liver disease in the long-term.

Molecular diagnosis of myocarditis and dilated cardiomyopathy in children: clinicopathologic features and prognostic implications.

Myocarditis is the most common cause of heart failure in children. We investigated viral etiology of myocarditis/dilated cardiomyopathy (DCM) in children and correlated molecular findings with pathologic and clinical data. Polymerase chain reaction (PCR) or reverse transcription (RT)-PCR were used to analyze 59 endomyocardial biopsies from 48 consecutive young (<18 yrs) patients (pts) with clinical and histologic diagnosis of myocarditis and DCM, employing primers designed to amplify specific sequences of various DNA and RNA viruses. Nucleic acids were successfully extracted in 41 pts and viral genomes were found in 20 (49%): 12 out of 26 pts (46%) with myocarditis, 6 out of 13 (46%) pts with DCM, and both patients with endocardial fibroelastosis. Enteroviruses were more common in DCM (72%), whereas adenoviruses and enteroviruses shared the same rate (36%) in myocarditis. The mumps virus genome was detected in the two pts with endocardial fibroelastosis. More diffuse inflammatory infiltrates and myocyte damage as well as more impaired left ventricular end diastolic volume and shortening fraction were noted in viral positive cases. PCR positive pts had a worse outcome, resulting in transplantation or death. Three out of 8 pts with viral myocarditis who underwent cardiac transplantation had recurrent PCR-proven graft viral infection. Viral myocarditis/DCM appeared to be a more severe disease than nonviral forms. Enteroviruses were more common in DCM, whereas adenoviruses were as frequent as enteroviruses in myocarditis. Persistence of viral infection was associated with disease deterioration. Viral myocarditis relapsed after transplantation.

Repair of tetralogy of Fallot in the first six months of life: Transatrial versus transventricular approach

BACKGROUND This report describes our experience with primary correction of tetralogy of Fallot in infants. METHODS Fifty-one consecutive infants younger than 6 months underwent primary correction of tetralogy of Fallot between January 1978 and October 1994. Mean age at repair was 4.2 months. Four were neonates. Correction was accomplished through a right ventriculotomy in the first consecutive 22 patients (43%; group A); since 1991, a combined transatrial-transpulmonary approach was used in 29 consecutive patients (57%; group B). A transannular patch was necessary in 33 infants (65%) 16 of group A (73%) and 17 of group B (59%). RESULTS There was one early death from possible left anterior descending coronary artery distortion in group A and no deaths in group B. Two patients required early reoperation for systemic-to-pulmonary artery collateral ligation (postoperative day 6) and permanent pacemaker implantation (postoperative day 30). There were no late deaths. All 50 survivors are currently asymptomatic and in New York Heart Association class I. Three patients required late reoperations 36 months, 30 months, and 13 months after repair for (1) subaortic stenosis and dysfunctioning dysplastic mitral valve, (2) residual pulmonary artery branch stenosis, and (3) residual right ventricular outflow obstruction. Four patients underwent balloon dilation and stent insertion (1 patient) for peripheral pulmonary artery stenosis 1.5 year to 12 years (mean, 5 years) after initial repair. Actuarial freedom from need for reintervention at 4 years was 78.4% in group A and 85.7% in group B. Two-dimensional and Doppler echocardiographic follow-up studies showed a residual mild to moderate pulmonary artery branch stenosis in 4 patients in group A, and a recurrent subaortic stenosis in 1 patient in group A. Right ventricular peak systolic pressure was less than 40 mm hg in all but 3 asymptomatic patients who had a residual pulmonary artery branch stenosis. Right ventricular end-systolic and end-diastolic volumes showed larger volumes and reduced ejection fraction in group A compared with group B. CONCLUSIONS This limited experience with repair of tetralogy of Fallot in patients less than 6 months of age demonstrates that the transatrial-transventricular approach is possible in neonates and young infants with a very low mortality and morbidity and also a low incidence of residual lesions. Follow-up echocardiographic data suggest that right ventricular function is better preserved in those patients who underwent the transatrial-transpulmonary repair.

Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome.

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.

Surgical closure of apical ventricular septal defects through a right ventricular apical infundibulotomy.

BACKGROUND We present a new understanding of the anatomic position of apical ventricular septal defects and its surgical relevance. These defects occur between the left ventricular apex and the infundibular apex, rather than between the left and right ventricular apices. Often a sizable apical recess, the infundibular apex lies anteriorly and inferiorly to the moderator band and is the most leftward part of the right ventricle. METHODS Four patients (2 boys and 2 girls) with a mean age of 109 days (range, 48 to 217 days) underwent patch closure through an apical infundibulotomy, which allowed complete visualization of the muscular apical ventricular septal defect. RESULTS There were no early or late deaths at operation. No significant residual shunt at ventricular level was detected by postoperative two-dimensional and Doppler echocardiography. Intraoperative comparison of right atrial and pulmonary arterial blood samples showed a difference of less than 5%. At a mean follow-up of 18 months, all the patients are asymptomatic and growing well. CONCLUSIONS The successful outcome of these 4 patients indicates that surgical closure of apical ventricular septal defects can be achieved safely and completely in early infancy through a limited right ventricular apical infundibulotomy. Long-term follow-up of these and similar patients is needed to provide further evaluation of this approach.

Clinical significance of high-frequency, low-amplitude electrocardiographic signals and QT dispersion in patients operated on for tetralogy of Fallot.

Abstract In conclusion, we found that in patients operated on for tetralogy of Fallot, signal-averaged electrocardiography is not useful for identifying patients at risk for severe ventricular arrhythmia, but the measurement of QT dispersion might be an appropriate noninvasive marker of electrical instability.

Repair of congenital mitral valve dysplasia in infants and children: is it always possible?

OBJECTIVES Surgical management of congenital malformation of the mitral valve (MV) in the pediatric age group remains a therapeutic challenge for the wide spectrum of the morphological abnormalities and the high incidence of associated cardiac anomalies. We reviewed our experience so as to assess whether MV conservative surgery is always advisable and its results are superior to MV replacement. METHODS Thirty-four consecutive children (20 male and 14 female) with a mean age of 5.9 years (range 45 days-18 years) treated surgically for congenital MV disease between January 1987 and June 1999. Four patients (11.7%) were under 12 months of age, while 21 patients (62%) were younger than 5 years. Twenty-two patients presented with MV incompetence (or prevalent incompetence), while 12 presented with stenosis (or prevalent stenosis). Associated cardiac lesions were present in 22 patients (62.8%). RESULTS Mitral valve reconstruction was possible in all. There were no operative deaths. Three patients required reoperation for MV restenosis (a re-repair in one and MV replacement with mechanical prosthesis in two) 4 months, 27 months and 5.6 years after repair with no operative deaths. There was only one late death for prosthetic valve thrombosis. Follow-up data reveal that the 33 surviving patients are asymptomatic and well 4 months-12 years (mean 72 months) after surgery. At 12 years, actuarial survival and freedom from reoperation are 96.8 and 85.9%, respectively. Echocardiography performed in all of them shows no or mild incompetence or stenosis in 26 (78%), while residual moderate MV incompetence persists in six. CONCLUSIONS Our experience indicates that MV reconstructive procedures in infants and children with congenital MV dysplasia may be effective and reliable with low mortality and low incidence of reoperation rate. Mitral valve repair should always be attempted, especially in infants, despite the frequent severity of MV dysplasia, to avoid the drawbacks of the currently available prostheses.

Is there an optimal timing for surgical ligation of patent ductus arteriosus in preterm infants

BACKGROUND We sought to define the variables associated with hospital outcome in preterm infants with patent ductus arteriosus (PDA) and identify the optimal timing for PDA closure to improve hospital outcome. METHODS Included were 201 premature babies (< or = 32 weeks gestational age), from January 2001 to June 2007, with PDA who received primary medical treatment with ibuprofen. Number of ibuprofen cycles, gestational age, body weight, and presence of symptomatic hypotension requiring vasoactive/inotropic drugs were related to hospital outcome, including hospital mortality, presence of necrotizing enterocolitis, acute renal failure, intraventricular hemorrhage, retinopathy and bronchopulmonary dysplasia at week 36. Data were analyzed with a logistic regression model. RESULTS Medical treatment was effective in 149 patients (75%), but 52 (25%) required surgical ligation after medical treatment failed. They had younger gestational age (25 weeks [IQR, 24 to 27 weeks] vs 27 weeks [IQR, 25 to 28 weeks], p < 0.0001), lower body weight at birth (730 g [IQR, 595 to 915 g] vs 840 g [IQR, 670 to 1016], p = 0.05), and a higher incidence of symptomatic hypotension (38 of 52 [73%] vs 56 of 149 [38%], p < 0.0001) than patients who responded to ibuprofen. More than two cycles of ibuprofen was significantly associated with an increased risk for bronchopulmonary dysplasia (odds ratio [OR], 2.81; p = 0.03) and acute renal failure (OR, 3.81; p = 0.09). CONCLUSIONS The prolonged patency of the ductus arteriosus in preterm infants is related to an increased morbidity. Surgical ligation of PDA is a safe and effective treatment and should be done soon after two complete cycles of ibuprofen, especially in selected patients, to improve clinical outcome.

Pulmonary hypertension in sickle cell disease children under 10 years of age.

Despite the finding of elevated Tricuspid Regurgitant Velocity (TRV) in children below 5 years of age, the prevalence and evolution of Pulmonary Hypertension (PH) in young children with sickle cell disease (SCD) are unclear. In order to identify predictive factors of precocious PH development, SCD children ≥3 years old, at steady state, underwent annual echocardiography and Tissue Doppler Imaging (TDI). Patients receiving chronic transfusion were excluded. Thirty‐seven of seventy‐five patients were ≥3 years, with measurable TRV. In our young population (mean age 6·2 years) of mainly African, HbS/HbS patients, 8/37 (21·6%) had TRV ≥2·5 m/s, 8% being only 3 years old. Significant correlation was found between precocious TRV elevation and high platelet and reticulocyte counts and frequent acute chest syndromes (ACS). In multivariate analysis, ACS was the only variable predicting TRV ≥2·5 m/s. TDI of the 37 patients showed signs of diastolic dysfunction of the left ventricle. At follow‐up all eight patients with high TRV displayed further increase and seven more developed TRV ≥2·5 m/s. PH seems to begin in children earlier than expected. Factors involved in its early onset might be different from the ones causing its development in older children or adults. African children might benefit from early screening and re‐assessment once a year.