Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry.

OBJECTIVE: To evaluate genetic, demographic and clinical features in patients with cryopyrin-associated periodic syndrome (CAPS) from the Eurofever Registry, with a focus on genotype-phenotype correlations and predictive disease severity markers. METHODS: A web-based registry retrospectively collected data on patients with CAPS. Experts in the disease independently validated all cases. Patients carrying NLRP3 variants and germline-mutation-negative patients were included. RESULTS: 136 patients were analysed. The median age at disease onset was 9 months, and the median duration of follow-up was 15 years. Skin rash, musculoskeletal involvement and fever were the most prevalent features. Neurological involvement (including severe complications) was noted in 40% and 12% of the patients, respectively, with ophthalmological involvement in 71%, and neurosensory hearing loss in 42%. 133 patients carried a heterozygous, germline mutation, and 3 patients were mutation-negative (despite complete NLRP3 gene screening). Thirty-one different NLRP3 mutations were recorded; 7 accounted for 78% of the patients, whereas 24 rare variants were found in 27 cases. The latter were significantly associated with early disease onset, neurological complications (including severe complications) and severe musculoskeletal involvement. The T348M variant was associated with early disease onset, chronic course and hearing loss. Neurological involvement was less strongly associated with V198M, E311 K and A439 V alleles. Early onset was predictive of severe neurological complications and hearing loss. CONCLUSIONS: Patients carrying rare NLRP3 variants are at risk of severe CAPS; onset before the age of 6 months is associated with more severe neurological involvement and hearing loss. These findings may have an impact on treatment decisions.

The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.

OBJECTIVE: To evaluate the genetic findings, demographic features and clinical presentation of tumour necrosis factor receptor-associated autoinflammatory syndrome (TRAPS) in patients from the Eurofever/EUROTRAPS international registry. METHODS: A web-based registry collected retrospective data on patients with TNFRSF1A sequence variants and inflammatory symptoms. Participating hospitals included paediatric rheumatology centres and adult centres with a specific interest in autoinflammatory diseases. Cases were independently validated by experts in the disease. RESULTS: Complete information on 158 validated patients was available. The most common TNFRSF1A variant was R92Q (34% of cases), followed by T50M (10%). Cysteine residues were disrupted in 27% of cases, accounting for 39% of sequence variants. A family history was present in 19% of patients with R92Q and 64% of those with other variants. The median age at which symptoms began was 4.3 years but 9.1% of patients presented after 30 years of age. Attacks were recurrent in 88% and the commonest features associated with the pathogenic variants were fever (88%), limb pain (85%), abdominal pain (74%), rash (63%) and eye manifestations (45%). Disease associated with R92Q presented slightly later at a median of 5.7 years with significantly less rash or eye signs and more headaches. Children were more likely than adults to present with lymphadenopathy, periorbital oedema and abdominal pains. AA amyloidosis has developed in 16 (10%) patients at a median age of 43 years. CONCLUSIONS: In this, the largest reported case series to date, the genetic heterogeneity of TRAPS is accompanied by a variable phenotype at presentation. Patients had a median 70 symptomatic days a year, with fever, limb and abdominal pain and rash the commonest symptoms. Overall, there is little evidence of a significant effect of age or genotype on disease features at presentation.

Incidence and prevalence of juvenile idiopathic arthritis in Catalonia (Spain).

OBJECTIVE: To ascertain the incidence and prevalence of juvenile idiopathic arthritis (JIA) in Catalonia (autonomous region in northeast Spain), examined according to the currently established disease subtypes. METHODS: Before initiating the study, we conducted an educational programme on paediatric rheumatology, addressed to all general paediatricians in Catalonia. A 2-year (2004-2006), prospective, population-based study was then carried out to determine the incidence of JIA. Prospective and retrospective data retrieval was performed to calculate prevalence. The International League of Associations for Rheumatology (ILAR, Edmonton revision) classification criteria were applied. RESULTS: Over the study period, 145 new cases of JIA were diagnosed. The mean annual incidence was 6.9/105 children aged less than 16 years (range 5.8-8.1 years; 9.0 years for girls and 4.8 years for boys). On separate analysis of patients ≤ 6 and > 6 years, the distribution in younger children was found to be similar for both girls and boys, whereas in older children, most girls belonged to the oligoarthritis and polyarthritis subgroups, and boys to the enthesitis-related arthritis and undifferentiated subgroups. The calculated prevalence of JIA (31 October 2006) was 39.7 (36.1-43.7)/105 children younger than 16. The relative risk of girls having JIA was 2.1 [95% confidence interval (CI) 1.7-2.7, p < 0.001]. In 70% of patients, the diagnosis was established before the age of 7. Subgroup distribution of prevalent cases mirrored that of incident cases. CONCLUSION: This is the first population-based study on the epidemiology of JIA in Catalonia. Incidence and prevalence rates are lower than those reported for several areas in Nordic countries of Europe. Oligoarthritis was the most common subtype.

Pharmacokinetic study of the variability of indinavir drug levels when boosted with ritonavir in HIV-infected children.

The aim of this work is to: (1) assess therapeutic drug monitoring of indinavir (IDV) during clinical routine practice in HIV-infected children, whose antiretroviral treatment includes IDV boosted with ritonavir (RTV), and (2) describe a possible relationship between IDV pharmacokinetics and MDR1 genotypes. In 21 ambulatory pediatric patients receiving IDV plus RTV, IDV plasma levels and MDR1 genotypes on exon 26 (C3435T) were determined. Nine of the 21 patients initially receiving 250 mg/m(2) IDV yielded trough levels below 0.10 microg/ml (median: 0.21, range: 0.04-1.31 microg/ml). When the dosage was increased to 400 mg/m(2) IDV plus 100 mg/m(2) RTV b.i.d., all, except 1 patient, achieved levels above 0.10 microg/ml. Pharmacokinetic analysis showed higher volume of distribution median values related to the C/C genotype in comparison with C/T or T/T genotypes for exon 26 (4.57 vs. 1.20 and 1.50 l/kg, respectively; p = 0.002). Although a higher median value of clearance was observed with the C/C genotype, the difference was not statistically significant (1.43 vs. 0.27 and 0.42 l/h, respectively; p = 0.052). These results may be explained by a reduced absorption of the drug, related with lower plasma IDV levels in patients carrying the C/C genotype in exon 26.

Lymphocyte P-glycoprotein variability in healthy individuals.

The aim of the present work was to describe the distribution of lymphocyte P-glycoprotein activity on a population of healthy individuals, taking also into account sex and age. P-glycoprotein activity in lymphocytes was measured by the Rhodamine 123 efflux assay using flow cytometry, in the presence and absence of verapamil, a P-glycoprotein inhibitor. We obtained a range of P-glycoprotein activity from 1.04 to 3.79. The distribution of the activity in the population studied was better described by a bimodal model, according with the Kolmogorov-Smirnov test. The frequency adjusted to the following equation: F = 0.70 N (2.11; 0.43) + 0.30 N(3.29; 0.26), in which 0.70 and 0.30 represented the proportion of each group, and 0.43 and 0.26 were the standard deviations of the activity of each group, respectively. The study of the relationship between subjects' age and P-glycoprotein activity showed no statistical significance. When healthy volunteers were separated according to sex, similar distributions were observed, although for men an increase in proportion of higher P-glycoprotein function group was observed. The variability observed in the population studied was important, with some volunteers with very scarce activity and some with a fourfold higher activity. Characterization of P-glycoprotein functionality in the population represents a useful contribution to the beginning of pharmacological treatments that consider its effect on pharmacokinetics and pharmacodynamics of individualized patients.

[P-glycoprotein functional activity in peripheral blood lymphocytes in ulcerative colitis]. / Funcionalidad de la glicoproteína P linfocitaria en la colitis ulcerosa.

P-glycoprotein (P-gp), encoded by MDR-1, is a transmembrane efflux pump that has been involved in relevant clinical drug transport. It is expressed in lymphocytes, luminal epithelium of colon and other tissues with barrier function. MDR1 was proposed as a candidate gene for ulcerative colitis. The aim of the present work was to investigate the role of P-gp in therapeutic response of ulcerative colitis by studying its functionality in lymphocytes isolated from peripheral blood. Samples were taken from 27 patients with active colitis classified clinically in refractory (n = 16) and responders (n = 11) to treatment. Rhodamine 123 (a fluorescent P-glycoprotein substrate) efflux was studied by flow cytometry as absence and presence of an inhibitor (verapamil, 100 uM). Data were expressed evaluating the behaviour of two markers defined based on % of cells with maximum (M1)/minimum (M2) intracellular fluorescence, reflecting inactivity/activity of the pump. Results were compared with a group of healthy individuals (n = 68). Significant differences were observed in absence and presence of Verapamil inhibition, when comparing refractory vs. responders (p < 0.05) as well as refractory vs. healthy controls (p < 0.01). No differences were observed when comparing responders vs. controls (p > 0.05) (Kruskal-Wallis test and Dunn post-test). Rhodamine efflux assay was also performed in 12 patients who required therapeutic change; a significant diminish of rhodamine transport (p < 0.01) was observed without inhibitor when patients achieved clinical response. Finally, our results suggest a possible relevant role of P-gp in ulcerative colitis treatment response and a possible usefulness of P-gp functional assay in the early detection of individual therapeutic response.

Topotecan vitreous levels after periocular or intravenous delivery in rabbits: an alternative for retinoblastoma chemotherapy.

PURPOSE: To determine the extent and the mechanism by which topotecan, a candidate agent for the treatment of retinoblastoma, gains access to the vitreous when administered by periocular injection or intravenous infusion. METHODS: In vivo experiments were conducted in which albino rabbits received 1 mg topotecan by periocular injection (POI group; n = 30) or as a 30-minute intravenous infusion (IV group; n = 16). Plasma and vitreal topotecan concentrations were analyzed during the 10 hours after administration. A population pharmacokinetic model was fit to the data. Additionally, periocular injections were performed postmortem to study the effect of removing the blood vasculature barrier. RESULTS: Potentially active lactone topotecan levels were detected in the vitreous in the POI and IV groups. Both administration schedules induced high total topotecan plasma exposures because of absorption from the periocular depot, though plasma lactone area under the curve (AUC) was significantly higher in the IV group. Similar vitreal concentrations were found in treated and control eyes in the POI group. The transfer from the periocular compartment to the vitreous was negligible. The absence of drug levels in the control eye of the postmortem-injected rabbits confirmed the systemic delivery of topotecan. Local toxicity was not observed. CONCLUSIONS: As a consequence of a favored passage across the blood-retinal barrier, considerable topotecan vitreous levels were detected in a rabbit model after systemic or periocular administration. Transscleral entry in vivo was constrained by rapid clearance from the administration site.

Cytoskeleton of hippocampal neurons as a target for valproic acid in an experimental model of depression.

BACKGROUND: Atrophy of pyramidal hippocampal neurons and of the entire hippocampus has been reported in experimental models of depression and in depressive patients respectively. We investigated the efficacy of valproic acid (VPA) for reversing a depressive-like behaviour and a cytoskeletal alteration in the hippocampus, the loss of the light neurofilament subunit (NF-L). METHODS: Depressive-like behaviour was induced by inescapable stress. Animals were divided into four groups: two to assess the response to 21 days of treatment with 200 mg/kg (I.P.) of valproic acid, and two in which the treatment was interrupted and the effects of VPA were evaluated 90 days later. Depressive-like behaviour was evaluated by the quantification of escape movements in a swimming test. NF-L was quantified by immunohistochemistry in dentate gyrus and CA3 of hippocampus. RESULTS: VPA corrected the depressive-like behaviour and reversed the diminution of NF-L in the hippocampus. Ninety days after the end of the treatment, and in contrast to the results previously obtained with fluoxetine, no recurrence of the depressive-like behaviour was observed. CONCLUSIONS: Despite interruption of the treatment, a long-lasting effect of VPA was observed. A possible relationship between the effect on NF-L and the prevention of depressive-like behaviour recurrence could be suggested.

Chronic treatment with fluoxetine decreases seizure threshold in naïve but not in rats exposed to the learned helplessness paradigm: Correlation with the hippocampal glutamate release.

The proconvulsive effect of the new generation of antidepressants remains controversial. The authors investigated in naïve rats the effect of chronic treatment with fluoxetine (FLX) on the convulsive threshold and on two parameters of the hippocampal glutamatergic neurotransmission: the in vitro glutamate release and the binding of [3H] MK801 to NMDA receptors. While the acute treatment with FLX provoked no change either in seizure susceptibility or in the glutamate release, the chronic treatment decreased the convulsive threshold in coincidence with an increment in the in vitro glutamate release. No significant effects on the binding of [3H] MK801 to NMDA receptors were found to be attributable to the FLX treatment. We also assessed the effect of the chronic treatment with FLX on the seizure threshold in rats exposed to an experimental model of depression, the learned helplessness paradigm (LH). While a decrease in the K+-stimulated glutamate release was observed in non treated LH animals, when they were chronically injected with FLX, no changes in the epileptic susceptibility and no increments in the glutamate release were found. Our results indicate that chronic treatment with FLX decreases the epileptic threshold in naïve but not in LH rats and that this effect correlates with the levels of the hippocampal glutamate release.

Morphine withdrawal syndrome: involvement of the dopaminergic system in prepubertal male and female mice.

Morphine (MOR) withdrawal signs are more marked in males than in females. Considering that the influence of the dopaminergic system on these differences is unclear, we analyzed dopamine (DA) and dihydroxyphenylacetic-acid (DOPAC) brain levels during naloxone (NAL)-precipitated withdrawal as well as the involvement of D(1) and D(2) receptors in the expression of MOR withdrawal in either sex. Prepubertal Swiss-Webster mice received MOR (2 mg/kg, i.p.) twice daily for 9 days. On the tenth day, dependent animals received NAL (6 mg/kg, i.p.) after MOR and were sacrificed 30 min later. DA and DOPAC concentrations were determined in different brain areas using HPLC with electrochemical detection. Other pool of mice received either a D(1) (SCH 23390; 0.2 mg/kg, i.p.) or D(2) (raclopride; 0.3 mg/kg, i.p.) receptor antagonist before NAL and withdrawal signs were evaluated. DA and DOPAC levels only decreased in striatum and cortex of withdrawn males. Conversely, both DA receptor antagonists decreased the expression of MOR withdrawal signs in either sex. The neurochemical sex differences described here could partially explain the behavioral sex differences observed during MOR withdrawal. Additionally, SCH-23390 and raclopride effects suggest an important role of both DA receptors in the expression of MOR withdrawal in males and females.

Tetronic® 904-containing polymeric micelles overcome the overexpression of ABCG2 in the blood-brain barrier of rats and boost the penetration of the antiretroviral efavirenz into the CNS.

AIM: To assess the involvement of ABCG2 in the pharmacokinetics of efavirenz in the blood-brain barrier (BBB) and investigate a nanotechnology strategy to overcome its overexpression under a model of chronic oral administration. Materials & methods A model of chronic efavirenz (EFV) administration was established in male Sprague-Dawley rats treated with a daily oral dose over 5 days. Then, different treatments were conducted and drug concentrations in plasma and brain measured. RESULTS: Chronic treatment with oral EFV led to the overexpression of ABCG2 in the BBB that was reverted after a brief washout period. Moreover, gefitinib and the polymeric amphiphile Tetronic(®) 904 significantly inhibited the activity of the pump and potentiated the accumulation of EFV in CNS. The same effect was observed when the drug was administered within mixed micelles containing TetronicT904 as the main component. CONCLUSION: Tetronic 904-containing polymeric micelles overcame the overexpression of ABCG2 in the BBB caused by chronic administration of EFV then boosting its penetration into the CNS.

Systemic onset juvenile chronic arthritis, polyarticular pattern and hip involvement as markers for a bad prognosis.

OBJECTIVE: To explore all the common clinical and biological variables that are characteristic of Systemic onset Juvenile Chronic Arthritis (SoJCA) in order to determine which of them are suitable as predictors of a bad articular outcome (persistence of inflammatory symptoms and/or established limitation of the range of motion (ROM). MATERIAL AND METHODS: Clinical charts for 124 SoJCA patients were retrospectively reviewed. From them, 91 were finally included in the study because they had all of the clinical and biological data at disease onset properly recorded. All have been followed for at least 3 years since the beginning of the disease. Data collected at onset, and after 3 and 6 months of the disease included: 1) systemic symptoms; 2) joint involvement, using both the usual articular count and the value of an articular index (Helsinki Index = HI) which intentionally excludes those joints that are not uniformly recorded in clinical charts; and 3) biological data. HI was used to separate the patients into two groups. When applied 3 years after the disease onset, HI > or = 10 represented a bad articular outcome while HI < 10 meant a good prognosis. SPSS for Windows 6.1 was used for both the univariate and multivariate analyses. RESULTS: From the multivariate logistic regression analysis, two different "clusters" of clinical data were found to be the best predictors of a bad articular outcome. A bad prognosis was linked at onset with the presence of generalized lymphadenopathies, age < 8 years and an HI > 6; at six months a bad outcome was linked with the presence of a polyarticular pattern plus hip involvement. CONCLUSION: Clinical parameters at the beginning of the disease were shown to be extremely useful in predicting the articular outcome of SoJCA. Therefore, they could constitute a good instrument to help clinicians tailor the best therapy for their patients.

Cross-sectional echocardiography in the diagnosis of atrioventricular septal defect.

Between 1983-1988 cross-sectional echocardiography was performed in 63 patients having an atrioventricular septal defect with common atrioventricular orifice. We excluded from this study all those patients with separate right and left orifices ("ostium primum" defects), those with isomerism of the right and left atrial appendages, those with univentricular atrioventricular connexions and those with discordant atrioventricular and ventriculo-arterial connexions. Parasternal long- and short-axis views, apical 4-chamber views and subcostal long-axis views were employed in all patients. In the last 26 cases, we also obtained the subcostal short-axis view. Nineteen patients showed ventricular dominance, with the right ventricle being dominant in 15. Ten patients had an associated defect in the oval fossa, while the atrial septum was partially or completely absent in the other 53. A ventricular septal defect was observed in all, but it was small in 10 and multiple in 2. Attachments of the superior and inferior bridging leaflets to the crest or the right side of the ventricular septum were seen in 32 cases. The inferior leaflet was hypoplastic in 19 patients. There was narrowing of the left ventricular outflow tract in 8 patients, and obstruction of the right ventricular outflow tract in 3. Abnormal attachment of the right portion of the common valvar orifice was present in 2 cases. A solitary papillary muscle supporting the left ventricular component of the common valve was seen in 6 cases producing a parachute-like arrangement. Our study shows that cross-sectional echocardiography is an excellent technique for the analysis of this anomaly.

Screening of the human tumor necrosis factor-alpha (TNF-alpha) gene promoter polymorphisms by PCR-DGGE analysis.

We have designed a new PCR-DGGE technique that enables detection of base changes in the TNF-alpha gene promoter. Screening of 130 samples from Spanish children has shown that this technique accurately detects the altered band patterns induced by the presence of the polymorphisms at positions -376, -308, -238 and -163 of the promoter sequence. Although further analysis are needed to fully characterise the alterations detected, we believe that this PCR-DGGE technique is a rapid and sensitive first approach to the genetic characterisation of the TNF-alpha promoter.

[Aortic atresia with hypoplastic left ventricle. Bidimensional echocardiographic correlation. Anatomy of 14 cases]. / Atresia aórtica con ventrículo izquierdo hipoplásico. Correlación ecocardiográfica bidimensional. Anatomía de 14 casos.

Fourteen cases (10 males, 4 females) of aortic atresia with hypoplastic left ventricle are reviewed. All were studied by two-dimensional echocardiography, treated by prostaglandin E1 and proved by necropsy. Surgery was also performed in 3 cases by Norwood technique. A good echo-anatomical correlation was found in the size of pulmonary artery (1.14 +/- 0.17 and 1.28 +/- 0.33 respectively), mitral valve (0.4 +/- 0.3 and 0.33 +/- 0.24) and aortic diameter ring with atresic valve (0.38 +/- 0.12 and 0.31 +/- 0.1). However, echocardiography overestimated the diameter of ascending aorta (p less than 0.001) and tricuspid valve (p less than 0.001) and the length of the left ventricle. These differences may be related to the greater distension of the aorta in vivo and to the difficulty of determining the exact direction of the ultrasounds. We conclude that two dimensional echocardiography is of great value not only for the diagnosis but also for the selection of patients for surgery.

[Right aortic arch with retro-esophageal aorta. Diagnosis by computerized axial tomography]. / Arco aórtico derecho con aorta retroesofágica. Diagnóstico por tomografía axial computadorizada.

The case of a patient with right aortic arch and retro-esophageal aorta associated with a perimembranous ventricular septal defect with a mild fibrous subaortic stenosis is presented. The existence of the retro-esophageal segment of the aorta was confirmed by left ventriculography and computerized axial tomography. This patient is the first to be diagnosed by axial tomography in our country.

[Prolapse of the mitral valve. Study using bidimensional echocardiography]. / Prolapso de la válvula mitral. Estudio con ecocardiografía bidimensional.

Mitral valve prolapse is frequent in childhood. The use of two-dimensional echocardiography may enable more accurate diagnosis and assessment of the degree of valve involvement. Twenty five (1.9%) of all children studied by two-dimensional echocardiography fulfilled the diagnostic criteria for mitral valve prolapse. In 48% it was associated to a different congenital heart as normality. The apical four chamber and parasternal long and short axis views were used, and cases were graded according to the severity of the prolapse. Diagnosis was made in 44% of cases by the apical four chamber view, which was the best projection to detect the abnormality. Cases of moderate and severe prolapse were also detected in the parasternal long axis view. All patients were asymptomatic but they were all controlled detect progression to mitral insufficiency of the appearance of other complications.

[Dilated myocardiopathy in children]. / Miocardiopatía dilatada en el niño.

Between 1971-1988 we have studied 46 children with dilated cardiomyopathy. Twenty were males and 18 females, with a median age of 17 months (range from 1 day to 11 years). The incidence of 3.4 cases a year during the first nine years dropped to 1.3 cases a year in the following years. Two patients were siblings. Seventeen patients were studied with Eco-Doppler, cardiac catheterization and angiocardiography. The most frequent presentation was heart failure, present in 45 cases (98%). By bidimensional echocardiography it was observed that all patients had a dilated left ventricle, with a left atrial/aorta ratio of 1.5 +/- 0.3; the ejection fraction was diminished in 12 patients (11-36%) and the length of the left ventricle in the long parasternal axis view 4.2 +/- 0.7. All the patients studied had an elevated telediastolic pressure in the left ventricle, four with pulmonary artery pressure of 96 +/- 11 and seven with right atrial pressure of 24 +/- 5. There was mitral insufficiency in 4 patients and tricuspid insufficiency in three. Clinical course was favorable in 18 patients with median age at present of 112 months (range: 11 months to 15 years). The last 6 patients, treated with vasodilators, are living. In conclusion, dilated cardiomyopathy is a moderately frequent disease, with trend to diminish in incidence prognosis improved after treatment with vasodilator was introduced, and easily assessed with non-invasive methods.

[Cardiovascular pathology in Marfan syndrome. Study of 11 children using two-dimensional echocardiography]. / Patología cardiovascular en el síndrome de Marfan. Estudio de 11 niños con ecocardiografía bidimensional.

UNLABELLED: From 1983 to 1987 we have studied by two-dimensional echocardiography 11 pediatric patients with Marfan's syndrome. All of them presented cardiovascular lesions localized mainly in the aortic and mitral valves and in the ascending aorta. Nine patients had a dilated aortic ring in both transversal and longitudinal diameters 2.03 and 2.29 cm/m2 of body surface (bs), respectively. The average value of the aortic valvular area was 4.71 cm2/m2 bs. The 9 patients presented also dilatation of the ascending aorta (2.01 cm/cm2 bs). There was thickening of the mitral valve in 5 cases and a prolapse was present in 8 (73%). In 4 cases the prolapse was localized in anterior leaflet valve in 2 in the posterior and in 2 in both. The maximal mitral valve diastolic area was 3.25 cm2/m2 bs. None of them has needed during follow up valvular replacement. Considering the importance of this cardiovascular disease and knowing its unpredictable evolution we recommend, in the absence of valvular insufficiency, and annual echocardiographic reevaluation, and more often if valvular insufficiency is already present. IN CONCLUSION: two-dimensional echocardiographic is useful and necessary for the diagnosis and follow up of patients with Marfan's syndrome.

[Persistent truncus arteriosus. Echocardiographic study of 8 cases]. / Tronco arterioso persistente. Estudio ecocardiográfico de 8 casos.

Eight patients (4 male, 4 female) with persistent truncs arteriosus diagnosed by two-dimensional echocardiography are presented. Age ranged from 1 to 19 days. Diagnosis was based on the demonstration of a single vessel giving rise to the aorta, pulmonary arteries and coronary circulation. In 6 patients we were able to define the types of the truncus: in 4 patients corresponded to type I (with partial presence of aorto-pulmonary septum) and in 2 cases corresponded to type II (without existence of septum). All cases had a dilated truncus (1.13 +/- 0.06 cm, range 1.05-1.3 cm), with moderate overriding (52% range 30%-65%) and an infundibular ventricular septal defect (0.6 +/- 0.08 cm, range 0.45-0.85 cm). In 2 cases we could also demonstrate the presence of an interruption of the aortic aorta. We conclude that two-dimensional echocardiography (specially parasternal long-short axis views and subcostal for right or leftout flow tracts axis views) gives sufficient information about this cardiac malformation, which can be completed by the use of pulsed Doppler ultrasound.