Association of cutaneous red-to-purple hemangiomas with leptomeningeal hemangiomas. a clinical study of two patients.

Cutaneous hemangioma is a benign vascular tumor of infancy with an initial proliferating period that appears between 1 to 2 weeks of life, extends during 18 months to 2 years of life, and then slowly regresses during several years until it disappears completely. They are characterized by endothelial cell proliferation followed by diminishing hyperplasia and progressive fibrosis. Vascular malformations are present at birth, grow commensurately with the child, and are characterized histologically by a normal rate of endothelial cell turnover, flat endothelium, thin (normal) basal membrane and normal mast cells. These cutaneous anomalies are commonly associated with cerebellar malformations, main cerebral arteries anomalies, congenital cardiac anomalies and/or coarctation of the aorta and persistence of embryonic arteries. Cutaneous hemangiomas can be associated with intracranial or extracranial hemangiomas that regress at the same time as the cutaneous hemangiomas. Cutaneous hemangiomas may show different types of color. Cutaneous red-to-purple hemangiomas are uncommon and their bright-red color is evident from the first weeks of life and remains unaltered until the hemangioma disappears. The intracranial angiographic studies in our series of more than 50 cases with facial hemangioma showed that patients with red-to-purple hemangiomas are commonly associated with localized leptomeningeal hemangiomas either in the ipsilateral or contralateral side. These leptomingeal hemangiomas were visualized only by MR enhanced with gadolinium. Involution of the cutaneous and leptomeningeal hemangiomas seems to occur simultaneously as in other types of external and internal hemangiomas.

[Three-dimensional echocardiography: preliminary experience in congenital cardiac disease]. / Ecocardiografía tridimensional: experiencia preliminar en las cardiopatías congénitas.

INTRODUCTION: Anatomical comprehension of congenital cardiac diseases by 2D echocardiography is occasionally very difficult. 3D echocardiography provides a more spatial anatomical information avoiding the need of two-dimensional reconstruction. METHODS: Of the 271 cases studied 80 were foetal and 191 patients. In all cases, 2D and 3D echocardiography was performed (Sonos 7500 with matrix probe). Four modes of 3D imaging were used. RESULTS: 3D echocardiography gave an accurate description of the size, form and wedges of septals defects. In atrioventricular septal defects and mitral anomalies, 3D echocardiography was useful for the assessment of dynamic valve morphology and mechanisms of regurgitation. In foetal screening the segmentary heart study was carried out from a single acoustic window. CONCLUSIONS: 3D real time echocardiography is a feasible, easy and rapid technique. It provides anatomical and functional details needed for an accurate comprehension of congenital cardiac diseases. In foetal screening, it provides an easier segmentary analysis of the entire foetal heart.

[Clinical guide to the management of patients with Beckwith-Wiedemann syndrome]. / Guía clínica para el seguimiento de pacientes con síndrome de Beckwith-Wiedemann.

Beckwith-Wiedemann syndrome (BWS) is characterized by congenital overgrowth, macroglossia and omphalocele or umbilical hernia. Children with BWS may also have all or some of the following features: asymmetry (hemihypertrophy) of the limbs, torso or face, hypoglycemia, organomegaly, ear pits or creases, and embryonal tumors. The frequency of BWS is approximately 1:14,000 births. We present a guide for the management of children with BWS aimed at helping pediatricians and general practitioners or specialists in the clinical follow-up of these patients. This guide has been structured according to different age groups and is based on published evidence.

Cardiac tamponade after a systemic-pulmonary shunt complicated by serous leakage.

A newborn baby with complex congenital heart disease had severe persistent pericardial effusion after a systemic-pulmonary shunt. Pericardiocentesis and pericardiotomy could not stop pericardial leakage. At reoperation, topical application of a fibrin glue resulted in resolution of the leak and avoided replacement of the graft.

The contribution of modern imaging to planning separation strategies in conjoined twins.

BACKGROUND/AIM: An accurate knowledge of the often complex and unexpected anatomy of conjoined twins is required in order to devise appropriate surgical strategies for separation. The recent progress of imaging techniques prompts an assessment of their contribution to planning separation strategies. MATERIAL AND METHODS: From 1990, we treated 8 consecutive sets of conjoined twins: 1 acardiac-acephalus, 1 epigastric heteropagus, 2 omphalopagus, 2 omphalothoracopagus, 1 ischiopagus tetrapus and 1 parapagus tripus. The first two sets were separated straightforwardly after birth and were excluded. Ultrasonographic and plain and contrast X-ray studies were used in all the remaining sets, angiography in 5, CT in 4, and MRI in 4. Helical CT and magnetic resonance angiography (MRA) were used in 3 sets. RESULTS: Two sets of omphalopagus twins and one of omphalothoracopagus twins were separated after birth due to brain damage of one twin, cloacal exstrophy and large arterial shunting, respectively. They were assessed using barium studies (3 sets), IVP (3), angiography (2), CT (2) and MRI (1). Three of six babies survived after separation. In the second set of omphalothoracopagus ecocardiography and MRA revealed that the extent of cardiovascular sharing precluded separation. In the remaining two sets of twins respectively ischiopagus and parapagus, the extent of organ sharing was depicted using three-dimensional helical CT and MRI; the four babies are alive after separation. CONCLUSIONS: Conventional imaging contributes only modestly to separation planning. In contrast, advanced imaging techniques are amazingly efficient in depicting complex fusions that have to be accurately recognised when planning realistic separation strategies.

[Thyroid function alterations in children with congenital cardiac disease after catheterization with iodinated contrast agents]. / Alteraciones de la función tiroidea en niños con cardiopatía congénita tras la realización de cateterismo con contrastes yodados.

INTRODUCTION AND OBJECTIVES: Iodinated contrast agents can block thyroid hormone synthesis. The aims of this study were: 1st) to study the incidence of thyroid function disturbances in children with congenital heart disease after cardiac catheterization, 2nd) to analyze the predisposing factors that may lead to the development of hypothyroidism after angiography, and 3rd) to determine the duration of these hypothyroidism states. PATIENTS AND METHODS: From february 1993 to April 1997 thyrotropine (TSH) and free thyroxine (FT4) serum values were analyzed before cardiac catheterization and in the two following weeks, in 99 children under three years of age, with congenital cardiac disease. Those patients who showed any postangiography increase in TSH were further evaluated by weekly measures of serum thyroid hormones and TSH until normal values were obtained or until the initiation of hormonal replacement therapy. The patients' data (age, previous exposure to contrast agents, cardiac disease, associated extracardiac malformations, renal failure, severity of illness, treatment) and the catheterism data (the dose and type of contrast and the fluoroscopy time) were included in the univariant analysis. RESULTS: 10 mUI/ml), that persisted beyond three weeks in six cases. The occurrence of multiple malformation syndromes was the most clearly associated risk factor (p < 0,01) not only in the development of postangiography hypothyroidism but also in longer hormonal dysfunction. CONCLUSIONS: Thyroid function should be tested in every patient with multiple malformation syndrome that undergo angiocardiography with iodinated contrast agents.

[Adenosine triphosphate (ATP) in the management of paroxysmal supraventricular tachycardia: experience in the neonatal period]. / Manejo del adenosín trifosfato (ATP) en la taquicardia paroxística supraventricular: experiencia en el período neonatal.

INTRODUCTION AND OBJECTIVE: The management of supraventricular tachycardia (SVT) in infants is somewhat controversial since numerous methods of treatment are effective. Regardless of the treatment chosen, it is important to quickly stop the tachycardia in neonates with SVT because they may suddenly become hemodynamically unstable. METHODS: Seventeen episodes of SVT treated with intravenous ATP are studied in 3 newborns (two were preterm infants: 30 and 34 weeks of pregnancy). Ages at presentation ranged from 2 to 27 days. RESULTS: ATP is effective in all episodes of SVT, with a mean intravenous doses between 0.10 and 0.50 mg/kg/dose. All patients showed short sinus arrest after ATP. No adverse side effects or hemodynamics changes occurred after ATP administration. CONCLUSIONS: ATP is a safe and reliable antiarrhythmic in neonatal period, including prematurity. We reviewed the experience in ATP management of SVT, mainly in pediatric population.

[Williams-Beuren syndrome: presentation of 82 cases]. / Síndrome de Williams-Beuren: presentación de 82 casos.

OBJECTIVE: We performed a retrospective review of a series of 82 cases of Williams-Beuren syndrome (WBS) and associated diseases. MATERIAL AND METHODS: A series of 82 patients (47 males and 35 females) who consulted at the hospital because of mental retardation and/or congenital cardiopathy were included. The patients were studied mainly from a neurological and cardiological point of view, and secondarily because of endocrinological and nephrological problems. Since description of the chromosomal abnormalities provoking the syndrome, we perform karyotyping in all patients with suspected WBS. RESULTS: Alterations mainly consisted of distinctive facial appearance (100 %), mental retardation with friendly behavior (90 %), congenital cardiopathy (85.4 %), mostly consisting of supravalvular aortic stenosis (72 %), with (12 %) or without (60 %) pulmonary stenosis, and behavior typical of attention deficit-hyperactivity disorder, which usually manifested at the age of 4 to 5 years in both boys and girls. Approximately 90 % started to walk and speak later than average. Birthweight was below 3000 g in 65 % of the patients in whom this datum was included in the medical record. Eleven of the 13 patients (84.5 %) studied showed the typical deletion of WBS. CONCLUSION: Study of patients with WBS should be multidisciplinary. Most patients require help during schooling and subsequent vocational guidance.

[Usefulness of intracoronary therapy with progenitor cells in patients with dilated cardiomyopathy: Bridge or alternative to heart transplantation?]. / Utilidad de la terapia intracoronaria con células progenitoras en pacientes con miocardiopatía dilatada: ¿puente o alternativa al trasplante cardiaco?

INTRODUCTION AND OBJECTIVES: Some paediatric publications have recently raised the value of intracoronary therapy with autologous bone marrow-derived progenitor cells (APCs) in children with dilated cardiomyopathy (DCM) and heart failure. We describe the usefulness of this treatment in two infants with severe DCM and heart failure, who had been transferred to our hospital for cardiac transplant evaluation. PATIENTS AND METHODS: The first patient was a 3 months old male weighing 4 kg. The second was a 4 months old male weighing 5 kg. At the time of admission, both were in poor clinical condition (NYHA IV), with severe dilation and systolic dysfunction (ejection fraction [EF]<30%) of the left ventricle and marked elevation of NT-proBNP, requiring treatment with mechanical ventilation and inotropic iv infusion. After mobilization with G-CSF for 4 days, APCs were obtained from peripheral blood by leukocytapheresis, administering them by a slow intracoronary bolus injection using a stop-flow technique (6.15x106 CD34-positive cells/Kg in the first patient, and 10.55x106 CD34-positive cells/Kg in the second). RESULTS: Since the first week after the procedure, clinical status of patients improved and echocardiography showed a decrease in left ventricular dilation. A month later, there was a significant improvement in EF (> 40%) and NT-proBNP levels, subsequently maintained throughout the follow-up. However, four months later in the first patient, the left ventricle dilated again and its function slightly worsened, but without any significant impact in his clinical status. CONCLUSIONS: Intracoronary therapy with APCs can be an alternative in children, especially infants, with DCM and heart failure. It can reduce the waiting list mortality, improve clinical status and provide more time on the waiting list to receive a suitable organ, or even to make transplantation unnecessary.

[Rendu-Osler-Weber syndrome: an rare cause of hypoxemia in children]. / Síndrome de Rendu-Osler-Weber: causa infrecuente de hipoxemia en la infancia.

Hereditary haemorrhagic telangiectasia or Rendu-Osler-Weber syndrome is a rare genetic autosomic dominant disorder with an estimated prevalence of one in 3000-5000 individuals. This multisystemic vascular dysplasia is determined by the mutation of two main genes which are endoglin (ENG) or HHT1 and ALK1 or HHT2. These mutations induce the vascular disorders which cause recurrent epistaxis and eventually multiple telangiectasias and arteriovenous visceral malformations (AVM). We report the case of an 11-year-old boy who developed severe hypoxaemia due to multiple pulmonary arteriovenous malformations.

[Clinical consensus on respiratory syncytial virus (RSV) infection prophylaxis and the use of palivizumab in paediatric cardiology.]. / Consenso clínico sobre la profilaxis de la infección por virus respiratorio sincitial y el uso del palivizumab en cardiología pediátrica.

BACKGROUND: Following the results of the CIVIC study, the SECPCC proposes to revise its recommendations for the prevention of RSV, taking into account the new evidence, as well as the preventive experience of paediatric cardiologists. For this purpose a structured method of professional consensus has been chosen. OBJECTIVES: To develop a Spanish clinical consensus on preventing infection by RSV under the auspices of the Sociedad Española de Cardiología Pediátrica y Cardiopatías Congénitas. METHODS: Delphi Consensus modified in two rounds. The study was conducted in four phases: 1) constitution of a Scientific Committee for bibliographic review and submission of the recommendations for discussion, 2) constitution of an Expert Panel with 75 representatives in the speciality, 3) postal survey organised in two rounds and intermediate processing of opinions, and issuing of a report to the panellists, and 4) discussion of the results in a face-to-face meeting of the Scientific Committee. RESULTS: Consensus was reached on 54 of the 70 preventive recommendations analysed. With respect to the 16 remaining issues, no consensus was reached, due to differences in professional opinion and the absence of established criteria among the majority of the experts. CONCLUSIONS: A set of recommendations for RSV prophylaxis in cardiology was developed and updated, rated in accordance with the degree of professional consensus on which they were based. These can be considered valid until such time as new scientific information emerges that warrants a further review.

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.

The 22q11.2 deletion syndrome is commonly diagnosed using fluorescence in situ hybridization (FISH) with commercial probes. The chromosomal breakpoints and deletion size are subsequently characterized by short tandem repeat (STR) segregation tests or by further FISH probes. Recently, a multiplex ligation-dependent probe amplification (MLPA) single tube assay was developed to detect deletions of the 22q11.2 region and other chromosomal regions associated with DiGeorge/velocardiofacial syndrome. We have compared the results of these three techniques in a group of 30 patients affected with 22q11.2 deletion syndrome. MLPA correctly called all patients who had been previously diagnosed by FISH. The MLPA results were concordant in all patients with the STR analysis in respect to deletion size. Furthermore, this novel technique resolved seven cases that were undetermined by STR analysis. These results confirm the efficiency of MLPA as a rapid, reliable, economical, high-throughput method for the diagnosis of 22q11.2 deletion syndrome.

Aberrant left pulmonary artery with tracheal stenosis without vascular sling.

We report a case of abnormal origin of the left pulmonary artery from the right pulmonary artery, associated with tracheal stenosis but with no vascular sling. This is the first such case, to our knowledge, without vascular sling.

Venous graft repair following brachial artery thrombosis in a neonate.

A case of venous graft repair to recover blood flow of a newborn's upper extremity, is described. Even though this complication remains uncommon, we emphasize on to avoid brachial artery for vascular monitorization and to perform microsurgical revision as elective procedure if conservative therapy is unsuccessful.

[Congenital and post-operative chylothorax in the neonatal period]. / Quilotórax congénito y quilotórax postoperatorio en el período neonatal.

In a retrospective survey of the patients admitted to the Neonatology Department during a 15 year period (october 1975-september 1990), we found 7 cases of chylothorax: 4 subsequent to cardiac surgery and 3 congenital. The incidence of chylothorax relative to the total number of admissions to NICU was 1.06% and 1.2% in respect to total admissions after cardiac surgery. The clinical outcome was good for all patients except one who died during resuscitation maneuvers following delivery. Only one patient required surgery to control chylothorax and the rest were successfully managed with medical treatment. We found that patients with postsurgical chylothorax drained a larger volume of pleural fluid, needed larger volumes of replacement fluid and required parental nutrition and mechanical ventilation for a longer period of time.

[Perioperative management of systemic pulmonary shunts in the neonatal period]. / Manejo perioperatorio de las fístulas sistémico pulmonares en el periodo neonatal.

We have analyzed 36 newborns (19 males and 17 females), with cyanotic cardiopathies in whom a systemic-pulmonary shunt had been performed. These patients were admitted to the Neonatal Intensive Care Unite between January 1985 and June 1990. We studied the perioperative events with the aim of describing the general features of this palliative surgery in the neonatal period and to determine the factors which indicate a bad prognosis. The age at admission was 10.5 +/- 16.5 days and at surgery was 19.5 +/- 20 days. Cardiopathy types included: 13 pulmonary atresias, 9 pulmonary stenoses, 6 D-transposition of the great arteries and 8 tetralogies of Fallot. Of these patients, 83% required prostaglandin administration before surgery. Cardiac catheterization was performed in 54% (in 1/3 balloon atrioseptostomy was performed). The mean diameter of the pulmonary branches was 3.5 +/- 0.7 mm. In 89%, a modified Blalock-Taussig shunt and in 11% a central aorto-pulmonary shunt were performed. The size of the prosthetic graft used was 4 mm in diameter in 77% of the cases, 5 mm in 20% and 3 mm in 3% of the patients. The mortality rate was 27% (intraoperative = 0%, early postoperative = 16%, late postoperative = 11%) with two critical periods: the initial 48 postoperative hours and the reoperation. Bad prognosis factors related to mortality are; preoperative (shorter gestational age and low newborn weight), operative (performance of a central aortopulmonary shunt, surgical ligation of the ductus during operation) and postoperative (arrhythmias, metabolic acidosis in the immediate postoperative period, lower oxygen saturation at 24 hours after the operation, hemorrhage). Our data are compared with other reports of systemic-pulmonary shunt in the neonatal period.

Cardiología y cirugía cardíaca pediátricas / Pedaitric cardiology and cardiac surgery

Las cardiopatías congénitas representan uno de los aspectos de más complejo manejo. En el momento actual, la mayoría de ellas son diagnosticadas en el período fetal y, aunque la mayoría de ellas van a poder ser tratadas y cuadradas definitivamente, muchas van a requerir un seguimiento e intervenciones de distinto tipo durante toda la vida. Para ello se necesita que estos pacientes sean atendidos en centros, muy especializados con experiencia e infraestructura. El Hospital Infantil la Paz mantiene un compromiso, desde su inauguración hace más de cuarenta años, y dispone de personal altamente cualificado y de los medios físicos y tecnológicos adecuados, siendo sus unidades reconocidas a nivel ministerial (AU)

Congenital heart disease management is extremely delicate. Most of the patients are diagnosed in fetal life, and although the majority will be treated and discharge, many of them will require continuous follow-up and several kinds of interventions along their life. Therefore, these patients should be managed in high qualified centers, with experience and resources. The Hospital Infantil La Paz has been committed with these patients for more than forty years, with well trained personnel and adequate technology and is officially recognized (AU)