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Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness. Without treatment, death occurs within the first 2 years of life. Although enzyme replacement therapy (ERT) with alglucosidase alfa has improved survival, treatment outcome is not good in many cases and is largely dependent on age at initiation. The objective of the study was (a) to analyse the different stages in the diagnosis and specific treatment initiation procedure in IPD patients, and (b) to compare clinical and biochemical outcomes depending on age at ERT initiation (<1 month of age vs. <3 months of age). Here, we show satisfactory clinical and biochemical outcomes in two IPD patients after early treatment initiation before 3 months of life with immunomodulatory therapy in the ERT-naïve setting, with a high ERT dose from the beginning. Despite the overall good evolution, the patient who initiated treatment <1 month of life presented even better outcomes than the patient who started treatment <3 months of life, with an earlier normalization of hypertrophic cardiomyopathy, along with CK normalization, highlighting the importance of early treatment initiation in this progressive disease before irreversible muscle damage has occurred.

Ca and Mg levels were determined in five spices according to marketing system (in bulk or commercialized in glass or polyethylene terephthalate (PET) containers) and correlated with microbial growth of commonly sporulated ( Clostridium perfringens and Bacillus cereus ) and non-sporulated ( Listeria monocytogenes , psychrophilic and mesophilic bacteria, and yeasts and molds) food-borne pathogens present in them, when they were previously added to the microbial culture media. The basil had the highest mean Ca and Mg level and showed the highest microbial growth in the food-borne pathogenic microorganisms studied ( p < 0.001). For Ca, the lowest levels were measured in cloves ( p < 0.001), which had the lowest capacity for microbial contamination. Ca and Mg contents in spices correlated linear and positively ( p < 0.05). Ca concentrations weakly and positively correlated ( p < 0.05) with microbial counts for almost all studied microorganisms, and Mg levels for B. cereus , C. perfringens , and mesophilic bacteria ( p < 0.05), possibly acting as a growing factor for some sporulated and non-sporulated foodborne pathogens. These relationships are especially significant when PET vs. glass was used as a packaging material for spices.

Zn, Cu, and Fe concentrations were measured in dehydrated herbs (thyme, rosemary, cloves, oregano, and basil) marketed in bulk or packaged in glass or polyethylene terephthalate (PET). Microbial counts of Listeria monocytogenes and other five foodborne pathogens were also checked when herbs were previously added to the growing media. The highest mean concentrations were found in basil for Zn and Cu, and in thyme and basil for Fe; the lowest ones for these minerals were in cloves ( p < 0.05). Basil had significantly higher microbial counts in five of the six foodborne pathogens studied ( p < 0.05). Cloves have the best hygienic quality as there is no microbial growth of L. monocytogenes , Clostridium perfringens , and Bacillus cereus ; they therefore could be used as a natural preservative in food. Aromatic herbs marketed in bulk showed a significantly higher microbial count ( p < 0.05). Zn, Cu, and Fe concentrations were positively correlated with microbial growth for L. monocytogenes , C. perfringens , B. cereus , and psychrophilic microorganisms ( p < 0.05), so they could act as a growing factor for the foodborne pathogens.

We present a case of a 12-year-old girl with severe cyanosis due to abnormal moderator band producing a hidden trabecular component of the right ventricle, mimicking isolated hypoplasia of the right ventricle. A marked hypoplasia was confirmed by echocardiography and catheterization. At operation an anomalously thickened moderator band obstructing the apical infundibulum was found. Repair consisted of a section of the moderator band and closure of the atrial septal defect. Postoperatively the right ventricle showed normal dimension and function.

Introduction and Objectives: In patients with pulmonary atresia with intact ventricular septum (PAIVS), radiofrequency-assisted perforation of the valve is the most widely used initial therapy when the anatomy is favorable. We report our experience with a modified mechanical technique that gave good results., Methods: Between November 2001 and October 2006, valve opening was carried out successfully in 11 consecutive neonates with a favorable anatomy (i.e., Alwi groups A and B, and tricuspid valve Z-score -1.1 [1.3]). The technique involved snare-assisted anterograde or retrograde perforation with the soft tip of a special guidewire used for chronic total coronary artery occlusions, use of an arteriovenous loop, and progressive balloon dilatation from a diameter of 2 mm to a maximum diameter of 9.6 [1.2] mm., Results: Valve opening was achieved in all patients, and right ventricular (RV) systolic pressure fell from 97 [17] mmHg to 48 [13] mmHg (P< .001). No pericardial effusion or cardiac tamponade was observed, though one neonate died 24 hours after the procedure due to pulmonary embolism. Six patients (54%) were discharged without any further intervention, while 4 (36%) required an additional increase in pulmonary blood flow. During the follow-up period of 25 [21] months, two patients died. Eight (72%) survived and were in New York Heart Association functional class 1. Two required additional surgery on the outflow tract, one of whom also needed a one-and-a-half ventricular repair. Data indicate that the valves remain open as RV structures grow, though without any change in the tricuspid valve Z-score., Conclusions: Pulmonary valvuloplasty using a mechanical technique proved effective in patients with PAIVS. Modification of the standard mechanical technique by using the soft tip of a special guidewire used for chronic total coronary artery occlusions was less aggressive and improved results. In patients with a favorable anatomy, results were comparable to those obtained using the radiofrequency technique.

Ectopia cordis is a rare disease that occurs in 5.5 to 7.9 per million live births. Only 267 cases had been reported as of 2001, most (95%) associated with other cardiac anomalies. We studied the cardiac malformations associated in 6 patients with ectopia cordis. Depending on where the defect was located, the cases of ectopia were classified into four groups: cervical, thoracic, thoraco-abdominal, and abdominal. All 6 patients died before the third day of life, 4 during delivery. Three of the patients were included in the thoracic group, whereas the other 3 belonged to the thoraco-abdominal group. All the patients had associated ventricular septal defects, 3 double-outlet right ventricle (50%) and the rest (50%) tetralogy of Fallot-pulmonary atresia. Two patients with double-outlet right ventricle presented mitral-valve pathology, a parachute valve and an atresic mitral valve. None of these cardiac anomalies have been reported to date.

Background: The use of balloon-expandable stents provides an effective alternative therapy in patients with stenotic lesions in congenital heart disease. Stents implantation has served to improve the results and to reduce complications of balloon angioplasty for coarctation and recoarctation of the aorta., Objective: We report our results after primary stents implantation for coarctation and recoarctation of the aorta., Patients and Methods: Balloon-expandable stents were implanted in 14 patients (mean age 20 +/- 12 years) with coarctation of the aorta (11 native and 3 postoperative); 2 patients had associated malformations. The morphology varied: 10 resembled a located-diaphragm (one of them with moderate arch hypoplasia); 2 had distorted coarctation and 2 had a complete aortal obstruction. Five patients were hypertensive and 1 had cardiogenic shock and severe arrhythmias which did not respond to intensive medical therapy. In all cases 14 Palmaz stents (7 P308 and 7 P4014) were implanted with the primary technique through a Mullin's sheath. The balloon-to-descending aorta diameter ratio, measured at the level of the diaphragm, was 1. A special technique was carried out in the 2 cases with complete aortal obstruction., Results: The procedure was effective in all 14 cases. The coarctation diameter increased from 4 +/- 2 to 15 +/- 2 mm (p < 0.0001) and transcoarctation systolic pressure gradient decreased from 43 +/- 19 to 2 +/- 2 mmHg (p < 0.0001). The ratio of the coarctation to descending aorta diameter measured at the level of the diaphragma increased from 0.3 +/- 0.1 to 0.95 +/- 0.05 (p < 0.001). At 19 +/- 8 months follow up, all patients showed sustained clinical improvement. The patient with complete aortal obstruction experienced a dramatic improvement, but she died from a sudden cardiac event 22 months after the procedure. At angiographic follow up in 7 patients, 1 year after implantation, no recoarctation was observed with secondary vessels patent, and absence of restenosis., Conclusions: a) Percutaneous endovascular stents implantation in coarctation and recoarctation of the aorta may become an effective treatment modality in the older child, adolescent and adults; b) stents are particularly attractive in those patients with a more complex anatomy and higher surgical risk; c) primary stenting is expected to have a lower rate of complications, and d) we describe a special technique with a right femoral-left humeral arterial circuit that is successfully applied to patients with complete aortal obstruction.

Interferon-alpha (IFN-alpha) is a biological response modifier with antiviral and tumoral effect that is used in the treatment of chronic myelogenous leukemias. Adverse effects are well documented and cardiovascular disturbances mostly include hypotension and tachycardia and rarely cardiomyopathy. We report on an infant with chronic myelomonocytic leukemia (CML) diagnosed at 3 months of age who was treated with increasing IFN-alpha dosage (2.5-5.5 million U/m2/day) given subcutaneously for 7.5 months. At that age, he presented anorexia, general malaise, and nocturnal sweating for about a week, followed by respiratory distress and tachycardia. Diagnosis of congestive heart failure was suspected and documented by cardiomegaly and echographic changes of left ventricular dilated cardiomyopathy, with a 40% left ventricular ejection fraction (EF) and 20% fractional shortening (FS). He was treated with digoxin, furosemide, and angiotensin converting inhibitors, and IFN-alpha was discontinued. Progressive improvement of cardiac function was observed within 7 months of the events with normalization of the echocardiographic findings (EF 60%, FS 31%). We should emphasize the possibility of severe and reversible cardiac toxicity of IFN-alpha in infancy.

We report a case of left cor-triatrial with ventricular septal defect and patent ductus arteriosus in a lactant of six months of age. It was diagnosed using color-coded Doppler echocardiography and magnetic resonance imaging. The intracardiac defects were successfully corrected through right atriotomy.

We present two symptomatic patients of five and six months old with unilateral agenesis of main pulmonary branch (right and left) without associated anomalies. The diagnostic was made with magnetic resonance imaging and two-dimensional echocardiographic with Doppler color flow. We think that the magnetic resonance, must be used with priority in this pathology for being a non invasive diagnostic method, that is able to diagnostic the basic cardiopathy and the intracardiac and extracardiac associated anomalies. His association with the Doppler-echocardiography allow to ignore the arteriography upon to get a accurate diagnostic.

Unlabelled: Between May 1974 and December 1993, 37 patients (0.75%) with a double-chambered right ventricle underwent surgical repair. The patients ranged in age from 11 months to 12 years (mean 4 +/- 1.1 years). Cardiac catheterization was performed in 36 patients. The proximal right chamber pressure was 118 +/- 10 mmHg and the mean ventricular gradient pressure was 75 +/- 10 mmHg. A ventricular septal defect was present in 36 cases and fixed subaortic stenosis in eight. Longitudinal right ventriculotomy, group I, was performed in 19 patients (51.3%): 11 had a perimembranous ventricular septal defect and eight an infundibular ventricular septal defect. Combined pulmonary arteriotomy and right atriotomy, group II, was performed in 18 patients (48.7%): 17 patients had a perimembranous ventricular septal defect. The ventricular septal defect was closed using a double velour patch in 26 patients, continuous suture in four and a Gore-Tex patch in six. In the ventriculotomy group one patient died shortly after the operation (following pulmonary complication), and ten patients required inotropic support. Two patients developed patch dehiscence and underwent reoperation. There were no complications in group II patients who underwent right atriotomy. Associated cardiac anomalies were corrected in all patients. Follow-up of 6.5 +/- 3.1 years after operation showed that 36 patients were alive and asymptomatic., Conclusion: the transatrial approach with pulmonary arteriotomy is an appropriate and effective double-chambered right ventricle correction even if it is associated with a perimembranous ventricular septal defect.

Introduction and Objectives: Bidimensional and color-coded Doppler echocardiography were used to study 19 patients with univentricular heart, permeable atrioventricular valves, muscular bulbo-ventricular foramen and an anterior rudimentary chamber. We evaluated the influence of the foramen upon the size of the great vessels, and in consequence the most appropriated surgical techniques., Material and Methods: The foramen was measured in two projections at the end of the systolic period, and its area was calculated, according to the body surface, with the formula S = pi (D1/2 x D2/2). Indexes lower than 2 cm2/m2 were considered as restrictive. We studied 19 patients that presented a mean age of 11 +/- 12 years (range 1 day-39 years). The patients were classified in two groups. Group A: patients who had transposition of the great vessels (13 cases). Group B: patients who had normal connection of the great vessels (6 cases). Each group was classified in two subgroups: subgroup 1, patients who presented a restrictive foramen, and subgroup 2, patients who presented a normal foramen. In this study, we evaluated the associated cardiac anomalies., Results: Group A. Thirteen cases. The index value for the whole group was 2.47 +/- 1.18 cm2/m2. The first subgroup included 6 cases with a restrictive foramen, 2 patients presented pathology of the arch. Four patients had a pressure gradient between the ventricle and the rudimentary chamber beyond 20 mmHg. The index of this subgroup was 1.68 +/- 0.39 cm2/m2, the median was 1.7. Seven cases, with a normal foramen, were included in the second subgroup, six of them had pulmonary valve stenosis, and the other one had undergone a pulmonary artery bandage 2 months before. Only one patient had a gradient pressure at the foramen beyond 20 mmHg. The index for this second subgroup was 3.34 +/- 0.83 cm2/m2., Group B: Six patients with normal connection of the great vessels were included. The index was 1.56 +/- 1.17 cm2/m2. The first subgroup included 3 cases with a restrictive foramen. The index was 0.72 +/- 0.29 cm2/m2 (range 0.41-1) and the median was 0.75. Pressure gradient between the ventricle and the rudimentary chamber was greater than 20 mmHg. Three patients with a normal foramen were in the second subgroup and here, the index was under normal limits 2.4 +/- 0.52 cm2/m2 (range 2.1-3), the median was 2.1. One patient underwent a pulmonary artery bandage two months before., Conclusions: Bulbo-ventricular foramen size/body surface index may exert an influence on the size of the vessel connected to the rudimentary chamber. The index vary in a negative way with the evolution time, or in those cases with transposition of the great vessels after a pulmonary artery bandage. Whenever the foramen is restrictive, the pulmonary artery or the aorta have a smaller diameter and the pressure gradient between the ventricle and the rudimentary chamber rises.

Background: Balloon angioplasty is a useful therapeutic method in some congenital heart diseases. We show our experience of stenotic Blalock-Taussig angioplasty, which was effective in six cases., Patients and Methods: Six symptomatic patients with different congenital heart diseases, reduced pulmonary blood flow and a previous Blalock-Taussig shunt (it was classic in three patients and modified in another three) underwent the procedure. Conventional angioplasty was performed in four cases and coronary angioplasty technique, under monorail system, was applied in the other two., Results: After angioplasty, we observed an increase in the minimum luminal diameter from 1 +/- 0.7 to 4 +/- 0.5 mm (p < 0.01), a reduction in the percentage of the stenosis from 77 +/- 15 to 13 +/- 13 (p < 0.01) and an increase in oxygen saturation from 63 +/- 10% to 82 +/- 5% (p < 0.05). The effectiveness of the technique in an extreme case of a thrombosed Blalock-Taussig, hours later the surgery, is reported. In the follow-up, we observed a symptomatic improvement, stable oxygenation levels, and a tendency in the hematocrit reduction., Conclusion: We consider that angioplasty of Blalock-Taussig shunt is indicated in those symptomatic patients, in whom a complete surgical correction is contraindicated. We demonstrate the effectiveness of the procedure, the coronary angioplasty, under monorail system is very useful for the stenotic modified Blalock-Taussig. It can be an effective technique when there is a postoperative thrombosis of the fistula.

We present a symptomatic newborn infant with anomalous pulmonary artery (pulmonary artery sling) studied by magnetic resonance imaging. Of the ones diagnosed by this method, is the first case published in our country and the eight of all that have been reported until this moment. The different methods used for the diagnostic, are discussed. We conclude that, the magnetic resonance imaging is at the moment, the elective diagnostic method.

Objectives: In order to study the efficiency of oral dose of propafenone in preventing childhood supraventricular tachycardias, we have treated 38 children without left ventricular dysfunction., Methods: The mean age has been 8 +/- 4.7 years old. All of them had suffered at least two episodes of supraventricular tachycardia, and eleven had undergone a previous antiarrhythmic treatment. The initial dose of propafenone has been 6.5 +/- 2.1 mg/kg/24 h (in 3 doses), which has been increased in case of inefficacy., Results: We have not advised neither side-effects, nor proarrhythmic effects, during a follow-up of 13 +/- 6 months. Propafenone has been efficient in preventing supraventricular tachycardias in all patients. The initial dose has been efficient in 17 patients, and we have increased the initial dose up to 11.1 +/- 3.7 mg/kg/24 h in 21 patients. The mean effective dose has been 8.9 +/- 3.6 mg/kg/24 h. We stopped treatment in 14 patients after been 6 months without supraventricular tachycardias., Conclusion: From our study, we conclude that propafenone has been efficient in preventing supraventricular tachycardias in childhood with a dose of 8.9 mg/kg/24 h. We have not found side-effects.

Objective: Evaluation of ventricular septal defect with two-dimensional echocardiography and color flow Doppler., Patients and Methods: We had studied by this method 180 patients; 97 males and 83 (mean age 1.5 +/- 1 years) diagnosed of a VSD. Cases with a complex cardiopathy were excluded from the study. The VSD was classified according to its location and relation to the tricuspid anulus and semilunar valves in perimembranous VSD, muscular VSD and subarterial double committed defect. The colour Doppler identified one or two areas of low through the ventricular septum with a zona of proximal acceleration throughout systole. Every group can be evaluated in different views but they all have a selective echocardiographic view except for muscular trabecular VSD., Results: Seventy-six patients had perimembranous VSD (30 inlet, 26 trabecular and 20 infundibular-outlet), 102 had muscular VSD (3 inlet, 97 trabecular and 2 infundibular-outlet) and 2 had a subarterial double committed defect. A ventricular septal aneurysm was associated in 20 patients with muscular or perimembranous defects. Six patients, 2 of the perimembranous trabecular VSD, 2 muscular-trabecular VSD and 2 subarterial were initially misclassified. In this last 2 cases the turbulence created in the pulmonary valve was wrongly interpreted as pulmonary valvular stenosis; subcostal view for both tracts is necessary to avoid such mistake. In conclusion, color Doppler flow mapping is very useful to differentiate the various types as VSD and aids identification of multiples ventricular septal defects.

A case of 20 year-old man with a left coronary artery fistula to right ventricle secondary to open heart surgery is reported; he was asymptomatic and a continuous precordial murmur was found on physical examination. Two dimensional echocardiography-Doppler color flow imaging visualized a dilated left coronary artery with flow into the right ventricle. The discovery was confirmed by coronary angiography. We conclude that two dimensional echocardiography Doppler color flow imaging may be a method included in evaluation of pediatric patients with coronary artery fistula suspicion.

Between 1983-1991 we have studied 5,221 two-dimensional echocardiography in patients suffering cardiopathies. Twelve (0.22%) had an aneurysm of the atrial septum associated with atrial septal defect. Eight patients had other cardiac anomalies. The criteria used to diagnosis the aneurysm were: 1) The atrial septum central part protrudes in the atrium. 2) 6 mm aneurysm base. 3) Minimum distance from the base to the protrusion top 6 mm. The aneurysm was located in the oval fossa in 6 patients (50%) and in the other 6 patients the aneurysm was situated in the ostium secundum. The aneurysm base measured 7.79 +/- 1 mm and the left or right septum displacement was of 7.37 +/- 1.82 mm. The left displacement was observed in 10 patients (83.3%) and the right in 2 patients (16.6%). The spontaneous closure of atrial septal defect by the aneurysm was showed in 2 (16.6%) patients and in one (8%) was necessary the surgical closure. The other 9 patients: five rested along the follow-up without any change and other 4 patients died because of cardiac malformation. To conclude the atrial septal aneurysm associated with atrial septal defect in an unusual cardiopathy. Two dimensional echocardiography and Doppler color was diagnostic in all infants.

Were studied 32 patients with coarctation of the aorta by continuous wave Doppler ultrasound in order to assess the usefulness of this diagnostic method. Nineteen (59%) had native coarctation and 13 (41%) recoarctation. Seventeen (53%) were male and 15 (47%) female. The mean age when diagnosis was performed was 56 +/- 54 months. We found associated anomalies in 15 patients (46%). We studied 5 variables of the continuous Doppler curve at the descending aorta that were compared with those of a control group of 20 patients without cardiac anomalies. The variables were: peak systolic gradient (50.1 +/- 18 mmHg; VS 7.6 +/- 3 mmHg; p = 0.001); peak diastolic gradient 18.5 +/- 10 mmHg; VS 0.49 +/- 0.5 mmHg; p = 0.001; systolic velocity half time 151.5 +/- 40 msec; VS 102 +/- 17 msec; p = 0.01; diastolic velocity half time 132.2 +/- 82 msec; VS 7 +/- 14 msec; p = 0.001 corrected acceleration time (169 +/- 26 mmHg; VS 138 +/- 22 mmHg; p = 0.01). Systolic gradient was highly sensitive (100%) and specific (100%). Diastolic gradient and time to half peak diastolic velocity were very specific (100%) and less sensitive (93% and 62%). There were 6 false positive and 4 false negative when we used the time to half peak systolic velocity (sensitivity 81%, specificity 72%). We conclude that continuous Doppler is a useful method in the diagnosis of coarctation of the aorta. The most important variables of Doppler curve are systolic gradient, diastolic gradient and time to half peak diastolic velocity. All patients with coarctation of aorta had at least 2 variables altered.

We present the case of an infant diagnosed by prenatal echocardiography as having a biventricular rhabdomyoma which was confirmed after birth. In the series of two-dimensional echocardiographies this tumor was seen to decrease in size until its complete disappearance.

We present 15 patients with atrioventricular and ventriculoarterial discordance diagnosed with two-dimensional echocardiography from January 1973 to June 1991. The 15 had situs solitus and six dextrocardia. A different level of insertion of the atrioventricular valves worth from 0.77 +/- 0.3 cm, was observed in all the cases which didn't perimembranous inlet ventricular septal defect. Ten patients, presented septal insertion of one of the chords of the left atrioventricular valve, while, this insertion wasn't observed in the right atrioventricular valve. The ventricular morphology and trabeculation, permitted the identification of both ventricles in all the cases. The subxifoidea view resulted in being fundamental, for the examination of the ventriculoarterial connections. Ten cases (66.6%) had an obstruction in the pulmonary outflow tract (6 in the valve and 4 in subvalvular area) and nine (60%) ventricular septal defect (7 perimembranous and 2 muscular). We believe that the two-dimensional echocardiography gives enough information to arrive at the correct diagnosis of this cardiac malformation and of the associated anomalies. This information can be completed with the use of the color-flow Doppler.

Between 1985-1990 we studied by means of two-dimensional echocardiography 286 patients with isolated ventricular septal defect (VSD). A hundred and sixty three being male and 123 female, as a mean age of 5 +/- 3 months. Sixty two cases (22.3%) reveales associated anomalies and in other 63 (22.4%) there was in the evolution an aneurysm of the septum membranous. The projections used were apical 4-chamber, with or without aortic root; parasternal long-short axis of great arterias or at ventricular level; subcostal 4-chamber; right oblique outlet right outflow tract and left oblique outlet left and right outflow tracts. Patients with VSD smaller than 3 mm were excluded. Perimembranous defects, 189 cases (66%), were more frequent than muscular, 91 31.8%), and subarterial defects, 6 (2.1%). Only 19 (9 apical muscular, 6 perimembranous outlet and 4 perimembranous trabecular) were initially misclassified. The diameter of the VSD was large in subarterial (0.85 +/- 0.1 cm) and perimembranous outlet VSD (0.75 +/- 0.5 cm) compared with the rest. Each group of defects was more easily shown by one particular projection except trabecular muscular defect. In conclusion, we are able to state that two-dimensional echocardiography enables us to discover the size and situation of isolated ventricular defects.

We report a case of mitro-aortic atresia with situs inversus. The patient was studied with two-dimensional echocardiography and the diagnosis was confirmed in the necropsy. Our newborn infant is the second case reported with this abnormality and the first in our country.

We report on a newborn infant with right ventricular diverticulum associated to dilated myocardiopathy, who was diagnosed by two-dimensional echocardiography within 24 hours after vaginal delivery. We believe this case represents the youngest one ever diagnosed with this disease.

A Blalock-Taussig shunt was performed in a child of 14 months diagnosed with tetralogy of Fallot associated with a complete atrioventricular defect. Seven months later, a balloon dilatation was performed because the shunt was stenosed in the site of the distal anastomosis. Repeat angiography we proved the patency of the shunt without restenosis 4 year later.

Between May 1974 and June 1990, 28 double chambered right ventricle underwent surgical repair. Twenty-one (75%) had high obstructive anomalous muscle bundles and in seven (25%) the anomalous muscle bundles were in low position. A ventricular septal defect (VSD) was present in all cases and a subaortic stenosis in six. Longitudinal right ventriculotomy was performed in 15 (53.57%) patients and a combined pulmonary arteriotomy and right atriotomy was used in 13 (46.43%). In the group treated by ventriculotomy 2 patients died shortly after operation (one as a consequence of disseminated infection and one after a lung lobectomy); another patient developed patch dehiscence and reoperation was performed via right atrium a year after. In other 3 patients the Doppler revealed a residual gradient of 20 to 30 mmHg. There were no complications in the group of patients that underwent right atriotomy. In addition to resection of the anomalous muscle bundles, the associated cardiac anomalies were corrected in all patients. Follow-up of 5.5 +/- 3.8 years after operation showed that 26 (92.86%) patients were alive and asymptomatic. We conclude that double chambered right ventricle can be early repaired with good results using a combined procedure with right atriotomy and pulmonary arteriotomy.

The ventricular septal defect (VSD) may close spontaneously in the first few years of life. The closure occurs by muscle's growth of the borders of the defect or by the appearance of an aneurysm of ventricular septum composed mostly by tricuspid tissue. We believe that the two-dimensional echocardiography is the best method to determine the mechanisms that take part in the aneurysm formation. The study was carried out on 58 patients with aneurysms of ventricular septum observed in 230 patients with ventricular septal defects. 29 were male and 29 were female patients. The mean age at the time of diagnosis of aneurysm was 30 months (range 1 month-13 years). Forty seven patients had a perimembranous ventricular septal defect (perimembranous inlet 29, perimembranous trabecular nine, perimembranous outlet nine and of mixed's type seven), muscular defect nine (muscular inlet seven, and muscular trabecular two) and VSD closed in two. The size of the defect was 0.47 +/- 0.2 cm (range 0.2-1.1). In 16 the defect was larger than 0.6 cm. Thirty two patients had associated anomalies. On study the aneurysm in relation with tricuspid valve leaflets: in 27 cases (46.3%), the aneurysm was entirely formed by tricuspid septal leaflets tissue (17 had perimembranous ventricular septal defect and seven muscular), in eight (13.6) the aneurysm had tricuspid valve leaflets and interventricular component of the membranous septum tissue (five perimembranous defect and two muscular) and in another 16 cases membranous septum tissue only. In 7 patients the origin of the aneurysm wasn't confirmed.(ABSTRACT TRUNCATED AT 250 WORDS)

Congenital heart diseases were studied in children diagnosed of trisomy 13 and trisomy 18 in our hospital between January 1973 and July 1990. Twenty patients with trisomy 18 were diagnosed (18 females and two males). All had cardiac malformations. The findings were: ventricular septal defect in 16 cases (80%), valvular anomalies in 12 (63%), patent ductus arteriosus in nine (47%) and atrial septal defect or patent foramen ovale in 7 cases (36%). We found some complex congenital cardiac diseases: one atrioventricular canal, one tetralogy of Fallot, one hypoplastic left ventricle with mitral atresia and double outlet right ventricle, one case of univentricular heart with aortic outlet from a rudimentary cavity, a right ventricular atresia with pulmonary and tricuspid valves atresia. Nine cases of trisomy 13 were diagnosed (seven females and two males). We found: ventricular septal defect in 7 cases (77%), valvular disease in five (100% of the necropsy studies), secundum atrial septal defect in 4 patients (80%) and patent ductus arteriosus in two. Two cases presented hypoplastic left ventricle with aortic arch hypoplasia, one of them had subaortic stenosis and left superior vena cava being connected to the right atrium via coronary sinus; one case showed fibroelastosis. Our results have been similar to the previously reported and confirm the invariably presence of cardiac malformations in these syndromes. These malformations are an important sign of suspicion in fetal ultrasonography.

Between January 1976 and December 1989, 28 patients with fixed subaortic stenosis underwent surgical correction. Twenty-one were male and seven female. The mean age when surgery was performed was 7.4 years (range 14 months to 14 years). Angiography was not done in 8 patients (28.5%). Fourteen had a subaortic stenosis due to a fibrous shelf and the other 14 to a fibromuscular one. Fifteen had associated anomalies, seven aortic stenosis, three aortic regurgitation and four mitral disturbances. Three surgical procedures were carried out: resection in 16 patients (57.1%), resection and myotomy in ten (35.7%), and resection with myectomy in two (7.1%). In 5 patients a residual stenosis was detected, one of whom required repeated surgery, and 2 other patients developed recidive of the stenosis (both required repeated surgery). Prosthetic valves (five aortic and one mitral) were inserted in 6 patients (21.4%). One of these required an aortic valve conduct. Pacemaker was placed in other 4 patients (two with prosthesis). No patient died and 20 (71.4%) are normal, nowadays, with a mean follow-up of 5.5 years. We conclude that fixed subaortic stenosis is a serious disease which requires correction at the time of diagnosis, independently of gradient. The type of surgical procedure influences in recidive. The older patients with the fibromuscular type and associated anomalies are candidates for a prosthetic valve.

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.

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.

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.

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.

A case of a previously unreported anomaly is presented in which absence of the aortic valve cusps, mitral atresia, a normal left ventricle, and an intact ventricular septum were diagnosed by cross sectional echocardiography. The development of a normal left ventricle, rather than the hypoplastic ventricle usually associated with mitral atresia, is explained by filling of the ventricular cavity via the regurgitant aortic valve.

We report the case of a male newborn infant with aneurysm of atrial appendage, ascending aorta and sinus of Valsalva associated to ventricular septal defect, fibromuscular subaortic stenosis and single coronary artery. The diagnosis was carried out by means of two-dimensional echocardiography and angiocardiography. This complex cardiac malformation has not been reported before.

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.

Right ventricular hypoplasia without additional congenital heart disease is an uncommon abnormality. It is characterized by partial absence of right ventricular inflow tract, both tricuspid and pulmonary valves being normally shaped. We report three cases; a newborn, an infant and a twelve years old boy. All of them had cyanosis and right atrial enlargement and both of the younger patients had electrocardiographic signs suggesting right ventricular hypoplasia. Right atrial mean pressure were raised. A differential diagnosis should be stablished with all sorts of right ventricular hypoplasia with cyanosis and with restrictive myocardiopathyes. Surgery for symptomatic patient should be palliative during first months of life and corrective from age one year onwards.

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.