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The objective of this study is to assess the efficacy of ICRF-187 as a protective agent against anthracycline cardiotoxicity. Cardiac function was evaluated by echocardiography before and after each cycle of anthracycline chemotherapy associated with ICRF-187 and compared with that of a second group receiving anthracycline chemotherapy without ICRF-187. The patients were a group of 15 consecutive children affected with various types of solid tumors who were treated with either doxorubicin-daunomycin or epirubicin (average doses 340 and 280 mg/m2, respectively), and treatment was associated with ICRF-187. A second group of 15 consecutive children affected with different malignancies were simultaneously treated with either doxorubicin-daunomycin or epirubicin (average doses 309 and 270 mg/m2, respectively), but without ICRF-187 association. None of the patients treated with anthracyclines and ICRF-187 association showed abnormalities on echocardiographic examination. In the second group of patients treated with anthracyclines but without ICRF-187 association, we observed a decrease in the left ventricular ejection fraction to55% and a decrease in the left ventricular fractional shortening to28% in two patients (13.3%). One of these (6.6%) showed a dilatative cardiomyopathy. Both groups of patients were treated with low doses of anthracyclines. Although this study was not randomized, in patients without ICRF-87 cardioprotection, there was a trend for a worse evolution with one case of clinical cardiomyopathy as well as subclinical cardiac abnormalities.

This study consists of a prevalence congenital heart disease (CHD) registered in the Pediatric Cardiology Department of Umberto I General Hospital in Rome between January 1st 1992 and December 31-th 1993. Cases recorded in this period have been taken part of a larger study called Italian Multicentric Study for recording and follow-up of congenital heart disease (IMS-CHD); the purpose is to determine the prevalence of CHD in Italy and discover the outcome of affected children. In this duration, 187 new cases have been recorded, in which 63.6% had a single defect while 36.4% had multiple defects. These isolated defects were most frequently occurred (51.9%) following the stenosis of the pulmonary artery (15.5% and the defects of the interatrial septum (15%).

Fetal echocardiography has achieved high sensibility and specificity rates and it has become a reliable tool to detect intra-uterine congenital heart defects.The purpose of the present study was to clarify the potential of anatomo-clinical correlation in fetal echocardiography not only for diagnosing heart defects, but also for understanding and following their morphogenesis and natural history in utero.Nine hundred pregnancies, referred by several first-level centers, have been followed up from the sixteenth week to birth, and the newborn baby has been studied, too. In case of either voluntary abortion, or intra-uterine or neonatal death, a post-mortem examination was performed whenever possible.Since 1982, 110 fetal heart defects have been detected: 94 were diagnosed by means of fetal echocardiography (in 21/94 an autopsy was carried out) and 16 were directly observed at the post-mortem (spontaneous or voluntary abortions not previously referred). The heart defects most commonly observed were the atrioventricular (14.5%), ventricular (9.0%), and atrial (7.2%) septal defects, the absent left atrioventricular connection (8.1%), and atrial isomerism (6.3%). The congenital heart defects diagnosed in utero vary from those observed in the newborn and infants in terms of distribution (because of difficulties in diagnosis, selection of pregnancies, and differences in manifestation) and morphology (because of the coexistence with other extracardiac malformations, the changes due to altered fetal hemodynamics, and the intrauterine evolution of the morphology of cardiac defects).Heart defects observed in utero have a peculiar prevalence and a different morphology in respect to their infantile counterparts and can be followed in their morphologic evolution.

We report a case of Down syndrome with unusual chromosome translocation. The proband is a 1 year old male with 47, XY, der (5) t(5;21) (q11:q21), + der (5) t(5;21). The mother's karyotype was 46 XX, der (5) t(5,21) (q11:q21). The chromosome imbalance resulted from 3:1 meiotic segregation.

We describe a case of protein-losing enteropathy after a Fontan operation, in the absence of high right atrial pressure. Although partial regression of protein-losing enteropathy was obtained with high doses of cortisone, complete resolution of the phenomenon was accomplished only after surgical closure of a left-to-right shunt through the pulmonary valve.

Williams syndrome (WS) is caused by deletion of the elastin (ELN) gene. We have analyzed an intragenic restriction fragment length polymorphism (RFLP) and the gene dosage of ELN using a new probe (FP4) in a series of 60 sporadic patients with a clinical diagnosis of WS. Deletion of the ELN gene was shown in 54 cases, while clinical revaluation of the 6 patients without the deletion did not confirm the diagnosis of WS. These results support the genetic homogeneity of WS, and the high accuracy of ELN molecular analysis, which can be confidenty used for providing genetic counselling to WS families.

The Authors describe a newborn with costal hypoplasia and vertebral malformation, tracheoesophageal fistula, congenital heart disease and closed hands with the second and third finger overlapping. Cytogenetic findings indicated trisomy 18 [47, XX, -1, +der(1), +der(18), t(1;18) (q1.2; p11.3)] inherited by mother's carried balanced translocation 1q/18.

The authors report on a case of trisomy 9 mosaicism syndrome, a rare chromosome abnormality. The common features of this syndrome are growth and mental retardation, low-set malformed ears, wide sutures and fontanelles, bulbous nose, short palpebral fissures, micrognathia, microphthalmia and enophthalmos, abnormal hands and feet, hip dislocation, joint limitation, cardiovascular defects and urogenital abnormalities. Our patient presented some unusual characteristics, such as 13 pairs of ribs, a vertebral malformation, a hemivertebra and a Dandy-Walker syndrome. They compare their clinical findings with the few cases previously described and they try to contribute to the further clinical definition of the syndrome. It is possible that there is a correlation between the variability of the phenotype and the percentage of trisomic cells in the patient.

A spectrum of anomalies of the atrioventricular valves, characterised by decreasing grades of leaflet differentiation from the tension apparatus and the ventricular wall, is included under the common heading of "Atrioventricular Valve Dysplasia". This concept has been further supported by the observation that tricuspid and mitral valve dysplasia frequently occur in the same heart. Although the general features of valvular dysplasia are the same in the two atrioventricular valves, there are side-specific patterns such as grade III dysplasia (and Ebstein's anomaly as well) in the right valve and mitral arcade in the left one.The common nature of "Atrioventricular Valve Dysplasia" was confirmed by the observation of a newborn infant affected by atrioventricular septal defect with separate orifices. By means of both pre- and post-natal echocardiography, a diagnosis of Ebstein-like dysplasia of the right atrioventricular component, and of marked regurgitation of the left one was made. At the post-mortem examination, a diagnosis of grade III dysplasia of the right valvular component and of grade II dysplasia of the left one was confirmed.Revision of the cases of atrioventricular septal defect with Ebstein-like dysplasia of the right valvular component disclosed that regurgitation of the left component frequently occurred, and that in one instance it was so severe as to require surgery. It may be inferred that in some cases, as in the one herein reported, such regurgitation could be due to a valvular dysplasia.The simultaneous presence of dysplasia of both valvular components of a common atrioventricular orifice further validates the concept of "Atrioventricular Valve Dysplasia". Pediatric cardiologists observing patients with atrioventricular septal defect and Epstein-like dysplasia of the right atrioventricular component should be aware of the possibility of a pathologic change in both the valvular components and accordingly plan the correct surgical approach.

The diagnostic and therapeutic utility of adenosine triphosphate (ATP) in pediatric age was investigated in fifteen children aged 4 days-16 years (mean age 6.4 years) observed for paroxysmal (Group A-9 pts) or incessant (Group B-6 pts) tachycardia. Twelve patients underwent transesophageal electrophysiological study. ATP was given as an intravenous bolus (0.075-0.5 mg/Kg). In Group A patients, ATP resulted in termination of spontaneous or induced tachycardia, and in all cases interruption in anterograde limb of the re-entry circuit occurred. In Group B patients, ATP induced transient atrioventricular block with persistence of atrial tachycardia, suggesting the atrial origin of the arrhythmia. No adverse haemodynamic effects were observed in any patient. We conclude that in pediatric age ATP must be considered the drug of first choice for junctional reciprocating tachycardias because of its efficacy, short mid-life and insignificant side-effects. Furthermore, it represents an effective diagnostic test for differentiating between junctional reciprocating tachycardias and atrial ectopic tachycardias.

The congenital heart disease series of the Pathological Museum at La Sapienza University of Rome was revised in order to detect specimens featuring atrioventricular valve dysplasia (AVVD) in fetuses and infants. Selected for study were 67 specimens from a collection of 667 hearts: there were 36 cases of isolated tricuspid valve dysplasia (TVD), 11 cases of isolated mitral valve dysplasia (MVD), and 20 cases of combined atrioventricular valve dysplasia. All the valves were graded according to Becker's criteria, which were morphometrically validated. There is an increasing degree of dysplasia in terms of differentiation and detachment of the valve from the ventricular wall. The concept of AVVD is supported by a substantial morphologic and morphometric analogy between TVD and MVD, in spite of some peculiarities of each grade and of side-specific anomalies (“mitral arcade” on the left side and grade III dysplasia on the right one), probably attributable to differences in the embryonic development of the two valves. AVVD is sometimes associated with dysplasia of the semilunar valves, in the setting of a polyvalvular disease of possible genetic origin. More often it is combined with other defects that cause ventricular overload. In such cases, AVVD usually occurs within the overloaded cardiac section, as if it were a result of mechanical stress.

A newborn infant with familial Wolff-Parkinson-White (WPW) syndrome presented with a supraventricular tachycardia of 300 beats/min, refractory to digoxin and flecainide administration. Serial electropharmacologic tests were performed via the esophagus before and during oral therapy with verapamil at 40, 80, and 60 mg daily. Before treatment, tachycardia could be induced with programmed stimulation. A regimen of verapamil at 60 mg daily, which resulted in the initiation of nonsustained (less than 10 s) reciprocating tachycardia only, without clinical recurrences, was identified as suitable long-term oral therapy. The efficacy of this drug regimen in preventing episodes of tachycardia was confirmed during a 1-month follow-up period. It is concluded that transesophageal atrial pacing is a useful, noninvasive means of selecting treatment in neonates with supraventricular tachycardia, when nonconventional drugs are considered for prophylaxis.

Our study was designed to assess potential cardiovascular adverse effects in clinically stable asthmatic children due either to oral sustained-release theophylline or theophylline in combination with an inhaled beta-2 adrenergic agonist. Twenty-five asthmatic children were evaluated while receiving no drugs, theophylline alone, and theophylline with an inhaled beta-2 adrenergic agonist. In each phase all patients underwent 24- to 48-hour Holter monitoring and a maximal treadmill exercise test. The results show that neither theophylline alone nor combined therapy was associated with any relevant cardiovascular adverse effect, including ectopic cardiac activity. A nonsignificant increase in mean heart rate was observed between each period of study. The data suggest that the use of theophylline either alone or in combination with a beta-2 adrenergic agonist in clinically stable asthmatic children is not associated with any serious cardiovascular effect.

The relation of clinical, electrocardiographic, and hemodynamic findings at diagnosis to presenting features and prognosis of hypertrophic cardiomyopathy in childhood was evaluated in 37 consecutive patients below 14 years of age at time of diagnosis (24 males and 13 females, mean age 7 +/- 4 years). A left ventricular out-flow tract gradient (mean 42 +/- 27 mmHg) was detected at cardiac catheterization in 13 (35%) patients. Clinical, electrocardiographic, and hemodynamic features in patients with and without a pressure gradient were similar. Patients who had moderate to severe functional limitation had a higher incidence of syncopal episodes (p less than 0.001), lower ejection fraction (p less than 0.01), raised pulmonary artery pressure (p less than 0.001), and left ventricular end-diastolic pressure (p less than 0.01). During a follow-up of 9.2 +/- 5.1 years (range 2-18), 9 (24%) patients died suddenly (2 with a recorded left ventricular outflow tract gradient). Univariate analysis showed that reduced ejection fraction (p = 0.0001), syncopal episodes (p = 0.003), increased left ventricular end-diastolic pressure (p = 0.03), and severe dyspnea (p = 0.04) were associated with a poor prognosis. However, multivariate analysis revealed ejection fraction (p = 0.0001) and syncopal episodes (p = 0.0097) as independent predictors of survival. In conclusion, sudden cardiac death was common and was well predicted by the combination of left ventricular dysfunction and syncope at time of diagnosis.