Objective: To relate clinical factors to the development of cardiovascular atherosclerosis for patients with homozygous familial hypercholesterolemia. Background: Homozygous familial hypercholesterolemia is associated with extreme elevations in levels of cholesterol causing aggressive atherosclerosis. Methods: We reviewed 10 children, 8 of whom were male, assessed at a single institution. We found that individual characteristics, levels of lipid, cardiovascular investigations, and management were related to the activity of low density lipoprotein receptors. Results: Activity of low density lipoprotein receptors was defined as absent, being less than 2% of normal, in 4 patients who presented at the ages of 0.3, 1.4, 1.8, and 4.5 years, respectively. The activity was minimal, representing 5%–30% of normal, in another 4 patients presenting at the ages of 6.1, 9.6, 9.9, and 12 years, and was undetermined in 2 patients who presented at the ages of 3.5, and 12.1 years. Levels of low density lipoprotein cholesterol at presentation ranged from 12.2 to 24 millimoles per litre. Plasmapheresis was performed bi-weekly in 9 patients. Patients with absence of receptor activity were less likely to have a serial decrease in the levels of low density lipoprotein cholesterol prior to plasmapheresis, and one of these patients was increased to weekly plasmapheresis. In addition, they had more aggressive cardiovascular involvement of the coronary arteries, aortic valve and aorta, requiring surgical intervention at the age of 8 and 12 years in 2 patients, with sudden death at the age of 3.1 years in one patient. In contrast, 1 patient with minimal receptor activity had surgical intervention at the age of 16.6 years and another patient died suddenly at the age of 33.6 years. Conclusion: Complete cardiac assessment is recommended at presentation. The frequency of plasmapheresis should be adjusted according to the activity of low density lipoprotein receptors and the individual response of the patient.

On 6 October, 2000, A Meeting of representatives from the Association for European Paediatric Cardiology, the Society of Thoracic Surgeons, and the European Association for Cardiothoracic Surgery, took place in Frankfurt, Germany to discuss the publications earlier that year of two separate systems of nomenclature for paediatric and congenital heart disease: the European Paediatric Cardiac Code and the International Congenital Heart Surgery Nomenclature and Database Project. It was agreed at this meeting that the Short Lists of both systems should be mapped to each other in a first attempt to gravitate toward a single system for describing cardiac defects and procedures related to the heart. The need for this mapping, the historical background of the two parallel nomenclature systems and the later ratification of the mapping process by the first International Summit on Nomenclature for Congenital Heart Disease on 27 May, 2001, in Toronto, Canada, are discussed in the current issue of Cardiology in the Young.

Objectives of the study: to analyse the features and outcomes of different types of atrioventricular septal defects, detected during fetal life, as compared to postnatal data. Material and methods: We analysed retrospectively the data concerning 82 fetuses with atrioventricular septal defect, diagnosed from 19 through 37 weeks gestation with a median of 26 weeks. In 46 cases (56.1%), the diagnosis has been made before the age of 24 weeks. Results: Characteristics of the series – in 44 fetuses the atrioventricular septal defect was not associated with other cardiac anomalies, while 38 fetuses had a more complex form. Chromosomal anomalies were present in 33 of the fetuses (40.2%), more frequently in cases without associated intracardiac defects (56.8%). Trisomy 21 occurred in just over one quarter the series, and in 43.2% of cases without associated defects. In addition, 11% of fetuses had trisomy 18, and one had trisomy 13. Extracardiac anomalies were present in 12 of the fetuses (14.6%), more frequently in cases without associated abnormalities. Of fetuses with more complex defects, 46.4% had hypoplasia of the left ventricle and aorta. Complete atrioventricular block was present in 10 of the fetuses (12.2%), mainly in fetuses with other malformations, and particularly with left isomerism. Recurrence of congenital heart disease was observed in 5 of the fetuses (6.1%). Outcome: In 25 instances (30.5%) the parents opted for termination of pregnancy. Of 57 cases that continued through pregnancy, 9 fetuses died prior to term (15.8%), 32 died postnatally (56.13%) and only 16 fetuses (28.1%) survived. Overall, the mortality was higher in cases with associated malformations, in those with heart failure or those with atrioventricular block. Cardiac surgery was performed in 19 infants, with 5 dying postoperatively, and one late. Conclusions: Our data show a high prevalence of atrioventricular septal defect associated with other malformations when diagnosed during fetal life. This combination is less frequently associated with chromosomal and extracardiac anomalies, but more often with obstructive lesions of the left heart and with atrioventricular block. The association results in a less favourable outcome.

Despite pathologic evidence of myocardial inflammation, the significance of myocarditis in children with acute rheumatic carditis remains controversial. Elevations in cardiac troponin I have been demonstrated in other forms of myocarditis. The purpose of our study was to determine if levels of cardiac troponin I are elevated, suggesting myocardial injury, in patients with acute rheumatic carditis. We identified all those patients with acute rheumatic fever, presenting between July 1998 and December 2000, who had clinical evidence of carditis, such as a new murmur of mitral or aortic regurgitation, and who had an echocardiogram, measurements of levels of cardiac troponin I, erythrocyte sedimentation rate, and/or C-reactive protein performed at the time of presentation. Their charts were reviewed for demographic and clinical data. Echocardiograms were reviewed for severity of aortic and mitral regurgitation, and measurements made of left ventricular ejection fraction, fractional shortening, and end-diastolic dimension. We found 16 patients with acute rheumatic carditis, ranging in age from 2.0 to 16.1 years, with just over one-third having symptoms of congestive heart failure. All patients had evidence of acute inflammation. There was a significant relationship between symptoms and severity of mitral regurgitation. No patient had elevated levels of cardiac troponin I level. The fact that levels of cardiac troponin I are not elevated in the serum of children with acute rheumatic carditis suggests that there is minimal myocytic necrosis in this setting. This supports the concept that acute valvar regurgitation is the major hemodynamic abnormality in these patients.

Isomerism of the right atrial appendages is associated with anomalies of pulmonary venous return, which may be obstructive. The associated pulmonary arterial obstruction, however, has been reported to “mask” the pulmonary venous obstruction, with resultant pulmonary edema following augmentation of the flow of blood to the lungs. We postulated that the frequency of “masked” pulmonary venous obstruction has been overreported in the literature. To ascertain the true situation, we evaluated the frequency of “masked” pulmonary venous obstruction in a large, unselected, group of patients with isomerism of the right atrial appendages. We evaluated the clinical, anatomic, and radiographic data of 65 newborns seen with this syndrome since 1970. Development of pulmonary venous obstruction, both before and after systemic-to-pulmonary shunting and/or infusion of prostaglandin E1, was determined and correlated to clinical and radiographic findings. Of the 65 patients, 19 (29%) were ultimately diagnosed with pulmonary venous obstruction. The pulmonary veins themselves connected in infradiaphragmatic fashion in 10 patients, supracardiac in 3, to the atriums directly in 1, and in mixed fashion in the other 5. Pulmonary venous obstruction was readily apparent in 15 of the 19, as demonstrated by pulmonary edema on initial chest radiography. The remaining four cases ultimately diagnosed with pulmonary venous obstruction received augmentation of pulmonary blood flow with resultant pulmonary edema. Of these four severely cyanosed patients, pulmonary vascular markings on the initial chest radiograph had been normal in one but increased in three. Due to the presence of these clinical markers, they do not truly represent “masked” pulmonary venous obstruction. Except for two patients with minimally obstructed pulmonary arterial blood flow, 44 patients without pulmonary venous obstruction had normal or decreased pulmonary vascular markings at presentation. Of these 44, 14 received infusions of prostaglandin E1, with none developing pulmonary edema. We conclude that pulmonary venous obstruction is usually readily apparent at time of presentation in patients with right isomerism, and that “masked” pulmonary venous is a very rare event which has been over-emphasized in the literature. Careful evaluation of clinical and radiographic findings at time of presentation can correctly identify pulmonary venous obstruction in such patients.

This study reviewed the short-term outcome of transcatheter closure of the defects within the oval fossa using an Amplatzer® Septal Occluder. From January 1997 to December 2000, 210 patients with defects within the oval fossa underwent successful transcatheter closure. We reviewed a total of 190 patients with left-to-right shunts, assessing the patients for possible complications and the presence of residual shunts using transthoracic echocardiogram at 24 h, 1 month, 3 months and one year. Their median age was 10 years, with a range from 2 to 64 years, and their median weight was 23.9 kg, with a range from 8.9 to 79 kg. In 5 patients, a patent arterial duct was closed, and in 2 pulmonary balloon valvoplasty performed, at the same sitting. The median size of the Amplatzer® device used was 20 mm, with a range from 9 to 36 mm. The median times for the procedure and fluoroscopy were 95 min, with a range from 30 to 210 min, and 18.4 min, with a range from 5 to 144 min, respectively. Mean follow-up was 20.8 ± 12.4 months. Complete occlusion was obtained in 168 of 190 (88%) patients at 24 h, 128 of 133 (96.2%) at 3 months, and 103 of 104 (99%) at one year. Complications occurred in 4 (2.1%) patients. In one, the device became detached, in the second the device embolized into the right ventricular outflow tract, the lower end of the device straddled in the third, and the final patient had significant bleeding from the site of venupuncture. There were no major complications noted on follow-up. We conclude that transcatheter closure of defects within the oval fossa using the Amplatzer® Septal Occluder is safe and effective. Long-term follow-up is required, nonetheless, before it is recommended as a standard procedure.

Marfan's syndrome is an inherited disorder of connective tissue, caused by mutations in the fibrillin-1 gene located on chromosome 15. Diagnosis is still based on a combination of major and minor clinical features. Prognosis is mainly determined by the cardiovascular complications. Advances in surgical and medical treatment for these complications have dramatically improved the prognosis of the syndrome.

Aim: To evaluate the failure of mechanically detachable spirals produced from tungsten (MDS, Balt, Montmorency, France) and the toxicity of elevated levels of tungsten in the serum subsequent to their implantation. Methods: We reviewed findings in 21 patients in whom tungsten coils had been used to occlude pathologic vessels, aneurysms and fistulas between 1996 and 1999. We achieved clinical follow-up, and measured renal and hepatic function, in 14 of the 21 patients. Results: Decreased radiopacity of the coils was observed in 9 of 13 patients who had follow-up fluoroscopy during repeat cardiac catheterization. Repeat angiography of the vessel occluded by the coil was performed in 7 patients, 5 of whom showed recanalization. Levels of tungsten in the serum were analyzed 6 to 35 months after implantation of coils in 8 patients. The mean concentration was 6.43 µg/l, with a range from 2 to 14.4 µg/l, normal values being less than 0.2 µg/l. Conclusion: Tungsten coils may dissolve over time and lead to markedly elevated levels of tungsten in the serum, with recanalization of previously occluded vessels. Despite lack of clinical and laboratory data in patients with elevated levels of tungsten in the serum, our study suggests that the clinical use of mechanically detachable coils produced from tungsten should no longer be recommended.

Aims: To assess the influence of age at a cardiac procedure of children, who underwent elective cardiac surgery or interventional cardiac catheterisation for treatment of congenital cardiac defects between 3 months and 7 years of age, on the longitudinal development of psychological distress and styles of coping of their parents. Methods: We used the General Health Questionnaire to measure psychological distress, and the Utrecht Coping List to measure styles of coping. Parents completed questionnaires on average respectively 5 weeks prior to, and 18.7 months after, cardiac surgery or catheter intervention for their child. Results: Apart from one exception, no significant influence was found of the age at which children underwent elective cardiac surgery or catheter intervention on the pre- to postprocedural course of psychological distress and the styles of coping of their parents. Across time, parents of children undergoing surgery reported, on average, significantly higher levels of psychological distress than parents of children who underwent catheter intervention. After the procedure, parents of children who underwent either procedure reported significantly lower levels of psychological distress, and showed a weaker tendency to use several styles of coping, than did their reference groups. Conclusion: Age of the children at the time of elective cardiac surgery or catheter intervention did not influence the course of psychological distress of their parents, nor the styles of coping used by the parents. Future research should investigate in what way the age at which these cardiac procedures are performed influences the emotional and cognitive development of the children.

Objectives: To establish the prevalence of coronary arterial abnormalities in mid-trimester fetuses with pulmonary atresia with intact ventricular septum, and whether their presence correlates with right ventricular morphology. Background: The presence of coronary arterial fistulas significantly alters the surgical options and prognosis for patients with pulmonary atresia with intact ventricular septum. The lesion can reliably be diagnosed using fetal echocardiography, and further definition of the prognosis is important for counselling parents. Methods: We examined the hearts of 39 pathological specimens diagnosed during fetal life, 3 of whom died postnatally. Coronary arterial abnormalities were defined as non-connection of the left or right coronary arteries to the aorta, ostial stenosis, marked tortuosity, dilation, thickening or abnormal myocardial branching. Mild tortuosity, or myocardial bridging, were considered normal. We measured the dimensions of the tricuspid valve along with the inlet and outlet portions of the ventricles. Ebstein's malformation, tricuspid valvar dysplasia, and the presence or absence of the infundibulum, were especially noted. We examined also 12 normal hearts as controls. Results: Coronary arterial abnormalities were found in 14/39 (36%). The dimensions of the right ventricle and tricuspid valves, and the gestational ages of the fetuses, were compared for these 14 with the 25 having no abnormalities using independent t-tests. The gestational ages were similar, 21.9 vs 21.1 weeks. The mean dimensions of the tricuspid valve, median z-scores, and right ventricle were smaller, 2.9 vs 7.2 mm; p < 0.002; −4.46 vs 0.23; p < 0.03; and 6.9 vs 13.7 mm; p < 0.002, for those with coronary arterial abnormalities. Ebstein's malformation, or dysplasia of the tricuspid valve, was present in 4 of 14 with, vs 15 of 25 without, coronary arterial abnormalities. A patent infundibulum was noted in 34 of 39 specimens. Conclusions: Mid-trimester fetuses with pulmonary atresia with intact ventricular septum already exhibit coronary arterial abnormalities, with a prevalence of 36%. The presence of a patent infundibulum confirms that atresia of the pulmonary valve is an acquired process. Coronary arterial abnormalities are seen in 50% of those with hypoplastic right ventricles, but less frequently in the presence of well developed ventricles. This is important information for those involved in counselling parents.

Objectives: To compare the short-term prognosis of patients with severe acute rheumatic carditis when treated with an intravenous pulse of methylprednisolone in comparison with conventional treatment using oral prednisone. Methods: We designed a randomized clinical trial in the setting of a university general hospital in Brazil. We randomly allocated 18 patients with the diagnosis of severe acute rheumatic carditis and congestive heart failure to receive an intravenous pulse as opposed to oral prednisolone. Methylprednisolone was administered in a dose of 1 g intravenously for 3 consecutive days in the first and second weeks, for two days in the third, and one day in the fourth week. Prednisone was administered in a dose of 1.5 mg/kg/day over the period of 4 weeks. Results: The mean age of the patients was 11.1 ± 3.7 years, with a median of 12 years. Patients on oral treatment showed a more pronounced decrease in the heart rate, sedimentation rate, and in the titres of C-reactive protein than those receiving intravenous therapy. At the end of treatment, a mild decrease in the left ventricular end-systolic dimension was found in those having oral treatment, compared to an increase in the group having intravenous treatment (p = 0.036). The ejection fraction showed a median increase of 5% in those undergoing oral treatment, and a median decrease of 6% in the group with intravenous therapy (p = 0.009). There were 5 therapeutic failures in those receiving intravenous therapy (56%), including 1 death. Therapeutic failures were not observed in those treated orally (p = 0.03). Conclusion: Intravenous treatment of methylprednisolone, as a single anti-inflammatory agent, was inferior to conventional treatment with oral prednisone in the control of severe rheumatic carditis.

Differentiation between a cleft of the mitral valve and the cleft of the left side of an atrioventricular septal defect – a lesion commonly found in patients with Down's syndrome – is surgically important since the distribution of the conduction tissue varies between the 2 lesions. We sought to determine if cleft of the mitral valve occurs also in patients with Down's syndrome. We studied 5 patients with Down's syndrome and cleft of the mitral valve followed in our institution. Echocardiography showed in all 5 patients a cleft dividing the anterior (aortic) leaflet of mitral valve with normal papillary muscle position, mural leaflet size, and ratio of the inlet/outlet dimension of the left ventricle. Associated cardiac lesions were present in all 5 patients: perimembranous ventricular septal defect in 3, ostium secundum atrial septal defect in 2 and patent ductus arteriosus in 2 patients. During the 5.6 years (0.2–11) of the follow-up period, surgical repair of the cleft was never indicated since the mitral regurgitation through the cleft remained mild or absent in all the patients. Two patients underwent closure of a ventricular septal defect, with atrial septal defect closure in one and ductal ligation in 2. One patient died suddenly at home, without evidence of a cardiac cause. In conclusion, a cleft of the mitral valve has important developmental and morphologic differences with atrioventricular septal defect and may occur in patients with Down's syndrome. If surgical repair of the cleft or of associated cardiac lesion is indicated, it is necessary to distinguish it from atrioventricular septal defect where the conduction axis is displaced posteriorly and may be exposed during surgery.

Objective: To evaluate immediate and midterm results with percutaneous aortic valvoplasty. Material and Methods: We reviewed the records of 141 patients undergoing percutaneous aortic valvopasty over a period of 13 years. Results: The patients were aged from 2 months to 40 years, with a mean of 10.9 ± 9.9 years. Of the total, 90 (63%) were male. The initial systolic peak-to-peak gradient decreased from 163 ± 52 mmHg to 32 ± 18 mmHg (p > 0.01) after valvoplasty in all 141 patients, while the proportional reduction ranged from 0 to 100%, with a mean of 72 ± 27%. The index of the size of the balloon to the diameter of the valvar orifice was 0.88 ± 0.19 in 128 patients. The follow-up ranged from 6 to 168 months, with a mean 51 ± 48 months in 70 patients. A significant difference was found in those failing after dilation when the initial evaluation was compared to the final evaluation of patients with follow-up. In those failing, the number of patients rose from 12 (17%) to 21 (30%) (p > 0.01). In contrast, in those in whom we achieved success, there was not such a great difference between the initial and final evaluation: 58 (83%) versus 49 (70%) (p > 0.1). The actuarial freedom curve of patients not needing new percutaneous aortic valvoplasty or surgery, by 182 months, was at 87% and 82% respectively. Conclusion: We have reviewed the largest series of patients in Latin-America reported thus far after undergoing percutaneous aortic valvoplasty, concentrating on mid term follow-up and limitations. New prospective and multicentric studies are needed from our region.

Aims: Measurement of electrocardiographic intervals to assess dispersion in ventricular repolarization may be helpful in the assessment of the risk of ventricular arrhythmia. We measured QTc, QT dispersion, and T wave intervals in premature infants before and while on treatment with the IKr blocker cisapride as markers for dispersion in ventricular repolarization. Methods and Results: We enrolled 15 non-ventilated premature infants with a mean gestational age of 30.5 weeks, ranging from 26.5 to 33.5 weeks, and mean postnatal age of 24 days, with a range from 5 to 51 days. A digital 12 lead electrocardiogram was recorded prior to and 3 days after administering cisapride at a dose of 0.8mg/kg/day. Serum electrolytes were simultaneously measured. Electrocardiographic measurements before and after included: QT, QTc Bazett, QT dispersion, R–R, T wave interval peak to end, T wave interval peak to end/onset Q to T wave peak, T wave axis, T wave maximum voltage and QRS–T angle. A paired t test and analysis of variance was used to compare the variables before and during treatment. The QTc, T wave interval peak to end and the ratio T wave interval peak to end/onset Q to T peak increased significantly following treatment with cisapride. Results expressed as before and during treatment were for QTc: 429 (65) ms versus 454 (29) ms p < 0.02; for T wave interval peak to end: 65 (11) ms versus 103 (24) p < 0.01, for the ratio T wave interval peak to end/onset Q to T peak: 0.32 (0.06) versus 0.55 (0.16) p < 0.001. Treatment with the IKr blocker did not significantly alter the QT dispersion, T wave voltage, angle or QRS–T angle. Conclusion: The interval from the peak to the end of the T wave and the ratio of this value to the onset Q to T peak interval, represents regional dispersion of repolarization across the ventricular wall. This is a potentially useful clinical index in the assessment of arrhythmic risk in premature infants being treated by blockade of the IKr channels.

On the assumption that the diameter of the reference vessel might determine the thickness of neointimal coverage of stents placed in the pulmonary arteries, we analyzed the angiograms of 28 lesions in 17 patients who underwent follow-up cardiac catheterization. Excluding 2 lesions where late stenosis was determined mainly by recoil of greater than 30%, we investigated the neointimal thickness of 26 lesions in 16 patients. Several factors that might contribute to late re-stenosis were also analyzed. Age and body weight at implantation ranged from 0.8 to 20 years, with a median of 6 years, and from 6.8 to 77.5 kg, with a median of 17.6 kg. Follow-up interval was from 6 to 15 months, with a median of 6 months.

There was a significant increase in diameter, as well as a reduction in pressure gradient, immediately after the implantation of stents. Although there was no significant difference between the achieved diameter and the diameter of the stent at follow-up, the diameter of the lesion at follow-up was significantly smaller than the diameter achieved by stenting. The increase in the pressure gradient at follow-up was slightly greater in 4 lesions where the late reduction in diameter was greater than 30% than in the 18 lesions where this was less than 30% (p = 0.05). The diameter of the reference vessel, and the diameter by stenting correlated with the late reduction in diameter. All lesions with diameter reduced greater than 30% had a reference diameter of less than 6.1 mm, and a diameter achieved by stenting of less than 6.5 mm. Late loss in luminal diameter directly correlated with the thickness of the neointimal coverage. In conclusion, close observation should be mandatory following implantation of stents in small pulmonary arteries.