Permanent junctional reciprocating tachycardia in infants and children: effectiveness of medical and non-medical treatment.

BACKGROUND: The aim of this study was to identify, in children affected by permanent junctional reciprocating tachycardia (PJRT), the effective treatment. METHODS: Seventeen children (9 males, 8 females, mean age 59 +/- 62 months, median 24) affected by PJRT were referred to our Institute between the years 1987 and 2000. RESULTS: Pharmacological therapy was successfully used in 14 patients: flecainide and propranolol in 5 of them, amiodarone alone in 5 and associated with propranolol in 2, propafenone alone in 1 and in association with sotalol in 1. These drugs were given for a mean period of 54.5 +/- 49.8 months with resolution of the cardiomyopathy in 7/7 patients. Treatment had been continued for 3-6 months and there were no side effects. Nine patients were treated with radiofrequency transcatheter ablation, after 78 +/- 53.5 months of medical treatment, at a mean age of 150 +/- 16 months. The shortest endocardial ventriculo-atrial (VA) interval during tachycardia was recorded in all cases at the coronary sinus ostium (mean value of local VA-surface RP' interval -38 ms, range -24/-55 ms). Successful ablation of the anomalous pathway was obtained at this site in all patients (mean watts delivered 26 +/- 3 W, mean T degrees 64 +/- 5 degrees C). During the follow-up period (mean 21 +/- 17 months) 2 patients with recurrences of PJRT underwent a second successful procedure. CONCLUSIONS: PJRT in pediatric patients can be successfully treated with antiarrhythmic drugs, this may allow delay of the highly effective radiofrequency ablation treatment until the children have reached an adequate growth.

Pulmonary atresia with ventricular septal defect: prevalence of deletion 22q11 in the different anatomic patterns.

BACKGROUND: Pulmonary atresia with ventricular septal defect (PA-VSD) is one of the most common cardiac defects associated with DiGeorge syndrome. The pattern of the pulmonary circulation determines the complexity of this type of heart disease. The aim of this study was to establish the prevalence of DiGeorge syndrome with deletion 22q11 in patients with simple and complex PA-VSD. METHODS: Since 1993 we have studied 128 consecutive patients affected by PA-VSD. In 90 of our patients the PA-VSD was considered "simple" (group I), because it was not associated with any other cardiac defects. In the other 38 children the PA-VSD was considered "complex" (group II) owing to the presence of heterotaxia, tricuspid atresia, a double-inlet left ventricle, transposition of the great arteries and congenitally corrected transposition of the great arteries. RESULTS: In group I, 38 patients (42%) had genetic syndromes or major extracardiac anomalies; deletion 22q11 was detected in 31% of cases. Major aortopulmonary collateral arteries were present in 50% of group I patients and in 57% of those with deletion 22q11. In group II, 10 patients (26%) had genetic syndromes or major extracardiac anomalies but none had deletion 22q11 (p < 0.005); in no case was the presence of major aortopulmonary collateral arteries observed (p < 0.005). CONCLUSIONS: PA-VSD is an anatomically and morphogenetically heterogeneous disease: in the setting of DiGeorge syndrome or velocardiofacial syndrome, PA-VSD is associated with a peculiar cardiac pattern and is due to deletion 22, whereas in case of nonsyndromic PA-VSD or when this disease is associated with different syndromes or with other types of cardiac defects, it is due to other morphogenetic mechanisms.

Anatomic patterns of conotruncal defects associated with deletion 22q11.

PURPOSE: Patients with cardiovascular malformations (CVMs) and deletion 22q11 from our series were studied in order to (1) analyze the association with dysmorphic features and noncardiac anomalies, (2) identify specific cardiac patterns and the distinctive association with additional CVMs. METHODS: From 1993 to 2000, 931 patients with CVM (95 with a clinical diagnosis of DiGeorge/velocardiofacial syndrome (DG/VCFS), 208 with different genetic syndromes, 628 without dysmorphic features) underwent accurate cardiac assessment, clinical and phenotypical examination, and screening for deletion 22q11 by fluorescence in situ hybridization (FISH). RESULTS: Deletion 22q11 was detected in 88 of the total patients, and in 87 of the 95 patients with a clinical diagnosis of DG/VCFS. Only one patient among the 628 without dysmorphic features had deletion 22q11. Conotruncal heart defects were the most common CVMs, often presenting in association with additional anomalies in four areas of the cardiovascular system: (1) the aortic arch can be right sided, cervical, double, and the subclavian artery can be aberrant, (2) the pulmonary arteries can present discontinuity, diffuse hypoplasia, discrete stenosis, defect of arborization and major aortopulmonary collateral arteries (MAPCA), (3) the infundibular septum can be malaligned, hypoplastic, or absent, (4) the semilunar valves can be bicuspid, severely dysplastic, insufficient, or stenotic. CONCLUSION: In subjects with deletion 22q11 CVM is virtually always associated with one or more noncardiac anomalies. Deletion 22q11 is exceptionally rare in children with nonsyndromic CVMs. Specific patterns of CVMs are observed in patients with deletion 22q11, including (1) anomalies of the aortic arch, (2) anomalies of the pulmonary arteries and of the pulmonary blood supply, (3) defects of the infundibular septum, (4) malformations of the semilunar valves. These additional CVMs may influence the surgical treatment of these patients.

[Rapid recovery from optic papillitis secondary to oto-mastoiditis in pediatric age]. / Rapida guarigione di una papillite ottica secondaria ad otomastoidite in paziente pediatrico.

In this paper we report the case of an acute papillitis of the right optic nerve secundary to a mastoiditis and sinusitis of the same site in a 10-year old boy. At onset the child presented a painful movement of the ocular globe, monolateral amaurosis and papillary oedema. The exams have confirmed the correlation among mastoiditis, sinusitis and papillitis. At the same time, we were able to exclude the presence of endocranial tumours and alteration of the other side. The child underwent a steroid therapy with a complete recovery within 30 days.

[Anterior scalenus syndrome in pediatric age. Report of a case]. / Sindrome dello scaleno anteriore in età pediatrica. Descrizione di un caso.

This paper aims to describe a case of a twelve-year-old girl affected by "scalenus syndrome" and who, at its outbreak, suffered great pain, cyanosis hyperhydrosis in the affected arm. The patient's follow-up took place at the Children's Hospital of the University of Rome "La Sapienza". The diagnosis, already clear from the anamnesis as well as from both the onset of the symptoms and the general conditions of the patient herself, was then confirmed by a local MR-angiography (MRA), the only test that gave us a positive result. No medical treatment was given the girl; she was only recommended to rest and avoid putting too much weight on the scapular girdle. The outcome of our study is mainly represented by the singling out and recognition of a syndrome which on the one hand is rare, but on the other is gaining more and more social significance, especially because of the so frequent use of often too heavy school bags, weighing on the scapular girdle. The description of this case, therefore, aims also to awake not only medical people, but also teachers and parents to the problem.

[Left pneumonectomy in a child with congenital bronchiectasis]. / Pneumonectomia sinistra in un bambino affetto da bronchiectasie congenite.

A case of diffuse bronchiectasis concerning an entire lung in an eight-year-old boy is described. The disease in this case was widespread in the entire left lung and was considered as consequent to a defect in the development of the left bronchial wall. Because of the frequent respiratory infections, occurring since birth, and given the good anatomical and functional conditions of the right lung, we recommended the surgical excision of the sick lung. After one year, the operation showed good results with regard to respiratory functions. The functioning of the remaining pulmonary parenchyma is quite satisfactory and allows the boy an excellent quality of life.

[The interpretation of a negative intradermal reaction to tuberculin in a case of tuberculous lymphadenitis]. / Interpretazione di una intradermoreazione alla tubercolina negativa in un caso di linfadenite tubercolare.

This work aims at describing a particular case of tuberculous lymphadenitis with negative tuberculin skin test in a five-year child who has afterwards developed Hodgkin disease. BK presence is initially demonstrated through the examination of a first bioptic sample of a lymph-node, then confirmed by the presence in the serum of mycobacterial antigens on the peripheral lymphocytes and monocytes. Nine months later the second bioptic sample puts in evidence the presence of Reed-Sternberg cells. The follow-up of our patient took place at the Pediatric Department of the University of Rome "La Sapienza" and lasted an overall period of twenty days. The child was hospitalized twice and underwent a large number of radiological and laboratory tests. The therapy consisted only of medical specific treatment. Our study results lead us to evaluate the presence of immunological suppressive mechanisms in some particular tuberculosis cases, justifying the tuberculin skin-test negativity. When Hodgkin's disease has turned up, it has been too difficult to outline a precise temporal sequence of events, we could only advance hypothesis.