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We present a case of complete trisomy 8 in a 40-day-old male infant, who had a number of congenital heart abnormalities.

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We report on one affected twin who presented with cough, dyspnoea and severe failure to thrive. He was found to have gross cardiomegaly on chest X-ray. This proved to be due to an intrapericardial teratoma with an associated pericardial effusion. The operation on this rare tumour was successful.

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This case report describes a coronary cameral fistula, an isolated cardiac defect, in a child with Down syndrome. Although Down syndrome patients are known to have a high incidence of cardiac defects, to the best of our knowledge this particular association has not been described previously.

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A successfully treated case of a spontaneous aortic thrombosis in a neonate is described as an illustration of the advantages of using low molecular weight heparin (LMWH) over unfractionated heparin (UFH) for anticoagulation therapy. A 5-day-old neonate presented with an abdominal aortic thrombosis detected by echocardiography. Intravenous UFH was commenced following thrombectomy. Poor venous access made monitoring the anticoagulation therapy problematic. Subcutaneous LMWH was substituted for UFH. It requires substantially less monitoring and no intravenous access, has fewer side effects, and allows for much earlier discharge from the hospital. Extensive investigation for a hypercoagulable state revealed no definite cause for the thrombus. The findings of homozygosity for a methylene tetrahydrofolate reductase (MTHFR) mutation and a mildly elevated homocysteine level are interesting but unlikely to account for the thrombotic event in this case. Anticoagulation with LMWH proved effective and more convenient than using UFH.

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The finding of bland, sterile vegetations in children with severe tetralogy of Fallot is unexpected, and to our knowledge, has not been reported previously. Eight patients diagnosed with tetralogy between January 1993 and July 1997 had sterile vegetations proven by histological and microbiological evaluation, in their right ventricular outflow tracts. Four of these patients were experiencing severe hypercyanotic spells, and four had severely reduced effort tolerance at presentation. They all underwent cardiac catheterization and were submitted for surgical repair. At surgery, the vegetations were thought to be causing further narrowing of the already tight fibrotic infundibular stenosis. Two of these patients had evidence of damaged valves, without evidence of active endocarditis. Although initially sterile, these vegetations, may in some instances, become infected.

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We have reviewed 31 patients with Takayasu's arteritis followed at two pediatric nephrology units in Gauteng, South Africa over a 15-year period. There were 25 black patients, 4 white, and 2 of mixed race. The mean age at diagnosis was 8.42+/-3.59 (range 2.4-14.5, median 8) years. The most common presenting sign was hypertension, followed by cardiac failure, bruits, and absent pulses. The Mantoux test was strongly positive in 27 patients (90%, control population 5%). Markers of activity included a raised erythrocyte sedimentation rate (23 patients) or Gallium single photon emission tomography (positive in 12 of 16 patients). Angiography revealed type II (abdominal aorta) and III (arch plus abdominal aorta) lesions to be most common (11 in each group). All patients received antituberculous therapy and most low-dose aspirin for its antithromboxane effect. Corticosteroids and further immunosuppression were used to control disease activity. We added total lymphoid irradiation (TLI) or cyclophosphamide. Twenty-six patients in all received further immunosuppression, with 13 patients in each group. Results were similar in the two groups, with similar pre- and posttherapy systolic blood pressures and creatinine clearances. Two patients in each group relapsed, 3 died in the TLI group and 2 in the cyclophosphamide group. Surgical intervention, usually in the quiescent phase, consisted mainly of renal autotransplantation. Because of the problems with TLI and 2 patients with papillary carcinoma of the thyroid with long-term follow-up, we no longer use TLI. We have shown that with active medical and surgical intervention the aggressive course of this disease in children can be modified.

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The presenting features and treatment responses of six children with junctional ectopic tachycardia are evaluated. Two of the patients were siblings and both presented in early childhood with cardiopulmonary failure. The elder sibling died, the surviving sibling was controlled on a combination of amiodarone, digoxin, and sotalol. The remaining four patients presented in later childhood with tachycardia induced cardiomyopathy. Two of the patients were diagnosed incidentally and have normalised their myocardial function on sotalol therapy. The other two presented in congestive cardiac failure. Radiofrequency His bundle ablation and insertion of a permanent pacemaker to control the arrhythmia was undertaken in the elder of the two patients. The remaining patient has had marginal recovery of myocardial function on a combination of amiodarone and sotalol treatment. Improvement in myocardial function may take several months and is dependent on control of the tachycardia in some patients. Sotalol, when used as single or combination treatment, was partially successful in four cases in reducing heart rate. None of the patients reverted to sinus rhythm.

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A case of right-sided endocarditis due to Salmonella typhi is described involving a native tricuspid valve in a child who was human immunodeficiency virus negative with no evidence of intravenous drug addiction. The patient had classic features of typhoid and tricuspid regurgitation without clinical evidence of bacterial endocarditis. Transthoracic echocardiography confirmed the tricuspid regurgitation. However, transesophageal echocardiography was necessary to demonstrate the vegetations affecting the tricuspid valve leaflets that made possible the diagnosis of endocarditis. The infection was cured with intravenous ceftriaxone and oral amoxicillin.

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OBJECTIVE: To document the development of aortic regurgitation following occlusion of a patent arterial duct. DESIGN: Case series involving nine children referred for surgical ligation of an isolated patent arterial duct. SETTING: Academic referral centre. METHODS: A preoperative transthoracic and transoesophageal echocardiogram was performed in theatre to look for aortic regurgitation. Thereafter, aortic flow was monitored throughout the operation by colour flow mapping with the transoesophageal probe in situ. Onset of aortic regurgitation was documented. An immediate postoperative transthoracic echocardiogram was performed on all patients and then daily until discharge on day 5. A follow up clinical and echocardiographic assessment was performed six weeks postoperatively. RESULTS: With ligation of the patient arterial duct, transoesophageal echocardiography showed immediate regurgitation in seven of the nine patients, seen as a small central jet on colour flow mapping. Six of the seven patients continued to have aortic regurgitation on transthoracic echocardiography before leaving theatre. In none was aortic regurgitation audible clinically. At discharge, five patients still had evidence of aortic regurgitation; of four seen at follow up six weeks later, only one had residual regurgitation. CONCLUSIONS: Ligation of the patient arterial duct results in the acute termination of the "run off" in a volume overloaded situation. This, together with a rise in the peripheral vascular resistance and the persistence of increased proximal vascular capacitance, is considered to be the underlying aetiology of the acquired aortic regurgitation.

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Four children are described, (three black and one white, two boys and two girls) with type A postaxial polydactyly. All four of them, in addition, had either a partial or complete atrioventricular septal defect (AVSD). None of these children had associated major malformations. Minor anomalies were observed (e.g., two patients with hypersegmentation of the sternal segments, one patient with undescended testes, one patient with hypoplastic lumbar vertebra, and one patient with a degree of craniofacial abnormality). Chromosome analysis was carried out for three of the four patients, and was normal in all of them. It is suggested that there is a specific association between type A postaxial polydactyly and the AVSD found in each of these patients. This picture does not conform to, but bears some resemblance to, the Ellis-van Creveld syndrome.

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BACKGROUND: Heart-hand syndromes compose a class of combined congenital cardiac and limb deformities. The proto-typical heart-hand disorder is Holt-Oram syndrome, which is characterized by cardiac septation defects and radial ray limb deformity. We have recently mapped the Holt-Oram syndrome gene defect to the long arm of human chromosome 12 in two families. The role of this disease locus in the pathogenesis of related conditions such as heart-hand syndrome type III (cardiac conduction disease accompanied by skeletal malformations) or familial atrial septal defects is unknown. METHODS AND RESULTS: Clinical evaluations and genetic linkage analyses were performed in five additional kindreds with Holt-Oram syndrome and also in one kindred with heart-hand syndrome type III and one kindred with familial atrial septal defect and conduction disease. Holt-Oram syndrome in all five kindreds mapped to chromosome 12q2. These studies and previous data provide odds of greater than 10(25):1 that the Holt-Oram syndrome disease gene is at chromosome 12q2. In contrast, neither the phenotypically similar disorder heart-hand syndrome type III nor the locus responsible for a familial atrial septal defect with atrioventricular block maps to chromosome 12q2. CONCLUSIONS: We demonstrate that heart-hand syndromes are genetically heterogeneous. Conditions that clinically appear to be partial phenocopies of Holt-Oram syndrome arise from distinct disease genes.

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It should be recognized that these guidelines should not be deemed inclusive of all proper methods of care or exclusive of methods of care reasonably directed to obtaining the same results. The ultimate judgment regarding the propriety of any specific procedure must be made by the physician in light of all of the circumstances presented by the individual patient.

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Six children presented with severe hypertension caused by Takayasu's arteritis (TA), of whom four had bilateral renal artery narrowing and two coarctation syndrome. Two presented with hypertensive encephalopathy and four with congestive cardiac failure. All had a strongly positive skin reactions to purified protein derivative of mycobacterium tuberculosis. Bilateral renal arterial bypass grafts performed in two children resulted in prolonged normalization of their blood pressures, but the grafts clotted 12-18 months later. Primary renal autotransplantation was unsuccessful in two children, one with bilateral renal arterial narrowing and iliac vessel involvement and one with a long coarctation. Secondary renal autotransplantation was successful in a third child with localized aortitis. A successful aortic patch graft was performed in one child with coarctation of the aorta. Angiotensin-converting-enzyme inhibitors should be used with caution in treating the hypertension caused by TA, since bilateral renal arterial narrowing is common and their administration may result in renal insufficiency. The long-term prognosis is guarded in severely hypertensive children with extensive vascular disease due to TA.

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The long-term complications of patch plasty repair for coarctation of the aorta were assessed retrospectively in 119 patients who were operated upon from 4 days to 13 years of age. There were 7 late deaths and 17 patients were lost to follow-up. Thus 95 patients were followed up for a minimum period of 3 years (mean 6.3 years). In addition, graded exercise tests were performed on 15 patients and 11 normal controls, measuring systolic blood pressure response and arm-leg blood pressure gradients. In this series, 16 patients (17%) were hypertensive, while 25 (26%) had a resting systolic arm-leg gradient greater than 20 mm Hg. Re-coarctation occurred more frequently when surgery had been undertaken under 1 month of age. Review of chest X-rays revealed calcification in the patch in 4 patients, one of whom subsequently went on to aneurysm formation. In a second child aneurysm formation was detected at repeat operation. Exercise tests showed a significantly higher systolic arm pressure in patients (mean: 165.3 mm Hg) when compared to controls (mean: 139.2 mm Hg) (P = 0.017) and a significant increase in arm-leg systolic gradient viz. 36 and 5.9 mm Hg, respectively (P = 0.0016). A good correlation was found between the systolic arm pressure and the systolic arm-leg gradient after exercise (r = 0.822; P = 0.0001). We conclude that the most important long-term complication following an aortic patch plasty, is re-stenosis. The development of an aneurysm was observed only twice. We believe that this apparently rare occurrence, as assessed on chest radiographs; is related to the young age (53% under 1 year) at which the repairs were carried out. Another possible reason may be that the follow-up period is not yet long enough.

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The clinical and ECG features, anatomical subtypes and outcome in 309 children (169 black; 140 white; 58% female) who underwent surgical closure of ventricular septal defects (VSDs) are presented. Clinical presentation was more severe in the black children; with recurrent pulmonary infections in 65% blacks compared with 34% whites. Congestive cardiac failure was noted in 60% blacks and in 37% whites. At cardiac catheterisation a left to right shunt greater than 2.5/1 was found in 45.5% of the black and in 39.3% of the white children. Severe pulmonary hypertension (greater than 80% of systemic systolic pressure) was evenly distributed in both groups. Of the 140 white children, 74.3% underwent surgery under the age of 2 years compared with 68.6% of the 169 blacks. A perimembranous VSD was found in 65% of patients in each group. Infundibular (muscular outlet) defects were observed in 28.6% of white and 30.8% of black children. Left axis deviation (LAD) on ECG was found in 11.9% of white and 9.2% of black patients; and 93% of the total of 27 cases had a perimembranous defect. Early mortality was 3.6% in white and 7.1% among the black children. Of the 17 fatal cases in the total group, 16 had severe pulmonary hypertension. It is concluded that: (i) operative results compared favourably with those reported elsewhere; (ii) the anatomical subtypes occurred with equal frequency in both ethnic groups; and (iii) this was also the case for LAD on ECG, which was most commonly associated with a perimembranous VSD.

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An unusual case of posterior transposition of the great arteries, with previously undescribed aortic obstruction is described. The patient, who underwent an arterial switch operation, was found at surgery to have a mass of myxomatous tissue arising from the tricuspid valve. This finding was responsible for the hemodynamically significant aortic stenosis.

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We report 2 infants with the unusual combination of origin of the left coronary artery from the right pulmonary artery as well as coarctation of the aorta. In the first case congestive cardiac failure persisted despite satisfactory repair of the coarctation. Further investigation revealed the anomalous origin of the left coronary artery. Corrective surgery, 24 days later was unsuccessful. When an identical diagnosis was made in the second child, it was decided, at a single operation, to combine correction of the coarctation together with re-implantation of the anomalous left coronary artery into ascending aorta. This patient has survived, and to our knowledge is the first such case with this outcome. The haemodynamic reasons for this approach are discussed.

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