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.

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.

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.

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.

Background: Paediatric cardiovascular surgery with or without cardiopulmonary bypass induces a complex pattern of pro- and anti-inflammatory responses. It is suspected that they may contribute to changes on the vascular endothelium. The endothelial response to cardiosurgical trauma and cardiopulmonary bypass, especially in children, has yet to be well established. Patients and methods: We studied 29 children undergoing cardiovascular surgery with cardiopulmonary bypass, comparing them with 21 not undergoing bypass. The groups did not differ significantly with respect to age, sex, weight and preoperative parameters. Blood samples were drawn 24 h before surgery, after onset of anaesthesia, after onset of cardiopulmonary bypass and after rewarming in those undergoing bypass, or immediately after surgery in the control group, 4 h and 2 days after surgery, at discharge, and months after surgery during out-patient follow-up. Serum levels of soluble E-selectin, P-selectin and P-selectin glycoprotein ligand-1 were measured by enzyme-linked immunoassay. Results: Paediatric cardiovascular surgery leads perioperatively to the significant decreases of the serum levels of soluble P- and E-selectin, as well as of soluble P-selectin glycoprotein ligand-1 (all p < 0.05). The time course, and all concentrations, of these molecules were not significantly different with and without bypass. The decreases, however, were more pronounced with cardiopulmonary bypass. Preoperative baseline values were reached months after surgery. Conclusion: Endothelial activation of release of adhesion molecules is reduced during paediatric cardiovascular surgery. Endothelial activity is more perturbed with cardiopulmonary bypass and for a long time after surgery.

On the basis of our clinical experience, we hypothesized that the role of mitral valvar anomalies in the development and recurrence of discrete subaortic stenosis might be underestimated. From January 1994 to October 2000, the anatomy of the mitral valve and its relationship to the other components of the left ventricular outflow tract were studied by echocardiography in a series of 73 consecutive patients referred to our institution for surgical correction of discrete subaortic stenosis. In all patients for whom it was considered advisable, surgical correction of the mitral anomaly was performed, together with resection of the fibro-muscular subaortic stenosis. One or more mitral valvar anomalies were found in 35 patients (48%). They could be grouped into five categories: insertion of a papillary muscle into the aortic leaflet, insertion of a papillary muscle into the ventricular wall, “muscularization” of the subaortic portion of the aortic leaflet, anomalous insertion of the valvar tissue into the ventricular wall, and accessory valvar tissue. In all cases with anomalous mitral valvar anatomy, surgical correction was feasible. It consisted of transection of the anomalous papillary muscle or its attachment, resection of accessory valvar tissue, and/or patch enlargement of the aortic leaflet. The incidence of mitral valvar anomalies associated with subaortic stenosis is probably underestimated. Our data suggest that they should be systematically searched for during the evaluation of all cases of subaortic stenosis. Their surgical correction is generally feasible, and might improve the mid and long term results.

Background: We analysed the experience with hypertrophic cardiomyopathy in two paediatric centres to establish the differences from older patients. Methods: Out of 45 young patients seen from 1974 to 1999, we included 38. Criterions for exclusion were secondary forms, or association with severe congenital cardiac disease which could alter the outcome. Results: The patients presented at the age of 5.7 years, and were followed for 7.0 years. The 34 patients referred because of a murmur or cardiomegaly were older than the four with heart failure, presenting at 6.2 as opposed to 2.1 years of age, p = 0.08. Of the patients, 29 (76%) had primary cardiomyopathy, while 9 (24%) had secondary forms associated with Noonan's and LEOPARD syndromes. Familial tendency was ascertained in 7 patients (18%). The septal thickness in mm/m2 at presentation was greater in patients under 2 years than in older children (29 vs 18, p = 0.02). Obstructive hypertrophic cardiomyopathy was found in 17 patients (45%), with six of these having mild associated congenital cardiac defects. Nine had symptomatic arrhythmias. Overall, treatment was medical in 31, with DDD pacing used in 5, and surgery, radiofrequency ablation, and transplantation in one patient each. Total mortality was 24%, at a rate of 4.3% per year. Four patients died in heart failure and 5 had sudden death. Those in failure were significantly younger (p = 0.01). Conclusions: Hypertrophic cardiomyopathy in the young is characterized by referral for murmur or heart failure; frequent secondary forms; the obstructive variant being as common as the nonobstructive form; a mortality rate similar to that for adults attending tertiary centres; and less frequent familial forms than in older populations.

So as to determine the value of brain natriuretic peptide in the plasma as a biochemical marker for myocarditis of Kawasaki disease, we studied 69 patients. The blood samples, electrocardiograms and cross-sectional echocardiograms were obtained before the commencement of treatment and in the convalescent phase. Results: The mean concentration of brain natriuretic peptide in the plasma was 73.2 ± 107.7 (mean ± SD) pg/ml in the acute phase, and 7.9 ± 7.5 pg/ml in the convalescent phase. We checked the electrocardiograms to find abnormal Q waves, elevation or depression of the ST segments, change in the pattern of the QRS complexes, and flattening or inversion of the T wave, all believed to be markers of myocarditis in Kawasaki disease. Those in whom the concentrations were greater than 50 pg/ml in the acute phase showed abnormal electrocardiograms more frequently than did those in whom the values were less than 50 pg/ml (21/29 vs 3/40, p < 0.0001 odds ratio 32.4). Amplitudes of the T wave in standard limb leads were measured both in the acute and convalescent phases, and the differences calculated. We regarded the sum total of these differences as representing “flattening T wave”, and we named this variable as the total suppressed T wave voltage. We examined the correlation between the variable and the levels of brain natriuretic peptide in the plasma during the acute phase, demonstrating a significant correlation (r = 0.500, p < 0.0001). We conclude, therefore, that the concentration of brain natriuretic peptide measured in the plasma can be a useful biochemical marker for the myocarditis of Kawasaki disease. When the titer is over 50 pg/ml, the patient probably has an abnormal electrocardiogram and is most likely to have myocarditis.

Subaortic left brachiocephalic, or innominate, vein is an uncommon finding in congenital heart disease, usually associated with obstruction of the right ventricular outflow tract. We describe our experience with 14 patients in whom the lesion was identified echocardiographically, 12 of them with right ventricular obstruction, one with totally anomalous pulmonary venous connection in the absence of obstruction to the right ventricular outflow tract, and the final one with a normal heart. A precise diagnosis of this venous anomaly is of great importance, since it needs to be differentiated from a central pulmonary artery, a pulmonary venous confluence, or an ascending vertical vein in totally anomalous pulmonary venous connection. In patients referred for surgery without catheterization, an incorrect echocardiographic diagnosis could lead to disastrous surgical results.

Vascular rings are rare vascular congenital anomalies causing oesophageal and tracheal compression. An aortoesophageal fistula is a devastating, in part iatrogenic, complication of vascular rings. It is seen with increasing frequency, and can be misleading, since differential diagnosis with other causes of haematemesis and melaena is often difficult, especially in infants. We report two infants with aortoesophageal fistulas secondary to double aortic arches forming a vascular ring. In both, the diagnosis was missed, and massive haemorrhage led to death. In both cases, the fissuration on the oesophageal and aortic sides of the fistula had sharp edges, highly suggestive of an iatrogenic laceration caused by manipulation of nasogastric tubes. The key for the diagnosis of vascular rings is, therefore, clinical suspicion and awareness of this condition. Prompt identification in infants with stridor, wheezing, or respiratory distress can prevent prolonged intubation, thus avoiding the formation of an aortoesophageal fistula and hopefully preventing a fatal outcome.

A child with pseudoxanthoma elasticum had mitral valvar prolapse with severe regurgitation necessitating replacement with a prosthetic valve. Extensive formation of pannus caused obstruction of two mechanical valves, one after twenty months and the second after three years. Histology of the pannus was similar to the endocardial lesions that are considered unique to pseudoxanthoma elasticum.

We report a case of anomalous origin of the right pulmonary artery from the ascending aorta that was diagnosed by fetal ultrasound at 21 weeks of gestation. The clue to the diagnosis was present in the three-vessel view, this being one of the views that we use for fetal cardiac screening. The anomaly was corrected surgically at 11 days of age. We discuss the importance of prenatal diagnosis in the management of this rare anomaly.

While echocardiography has previously been used to differentiate between patency and complete occlusion of aortopulmonary shunts, the echocardiographic diagnosis of partial obstruction of a shunt has not been reported. We describe a unique color flow Doppler finding that quickly and accurately diagnosed three cases of partial distal obstruction of aortopulmonary shunts.

We report a case of Uhl's anomaly in a 5-month-old cyanotic infant who presented with thromboembolic stroke and acute hemiparesis. The patient underwent successfully an initial surgical repair, which included exclusion of the right ventricle by patch closure of the tricuspid valve, atrial septectomy and construction of a bidirectional Glenn shunt. This was followed by successful construction of a total cavopulmonary connection.