bluuebunny/crossref_metadata_2025 huggingface dataset:
Haematological findings in children with inborn errors of metabolism
Authors: Tavil Betul , Sivri Hatice Serapl Kalkanoglu , Coskun Turgay , Gurgey Aytemiz , Ozyurek Emel , Dursun Ali , Tokatlı Aysegul , Altay Cigdem , Gumruk Fatma
Published: August 2006

Early detection and therapy of haematological abnormalities and/or diseases may improve the prognosis of metabolic disorders. Accordingly, we aimed to evaluate the frequency and types of haematological abnormalities in children[‐31pc] with various inherited metabolic disorders. The study group comprised 46 children with metabolic disorders who were followed at the Pediatric Metabolism Unit and were referred to the Pediatric Hematology Unit for evaluation of anaemia between June 2000 and 2005. The mean age of the children was 55.2 ± 64.8 months at haematological evaluation (range 1 month–18 years, median 22.0 months); 16 were female and 30 were male. Of these 46 patients with anaemia, 25 of (54.3%) had anaemia of chronic disease (ACD), 9 (19.6%) had iron‐deficiency anaemia (IDA), 7 (15.2%) had megaloblastic anaemia due to vitamin B12 deficiency, 3 (6.5%) had chronic haemolytic anaemia, 2 (4.3%) had autoimmune haemolytic anaemia, 1 had β‐thalassaemia major, and 1 had hereditary spherocytosis. In addition to the anaemia, bicytopenia or pancytopenia was found in 8 of 46 children (17.4%). The study indicated that in organic acidaemias including methylmalonic acidaemia, propionic acidaemia, isovaleric acidaemia, and argininosuccinic acidaemia, the majority of patients had ACD (75%), which was followed by vitamin B12 deficiency anaemia and IDA (p < 0.001). In PKU, both nutritional anaemias and ACD were present at about same frequency: 46.7% and 40%, respectively (p > 0.05). This study suggested that congenital anaemias such as hereditary spherocytosis or thalassaemias should be kept in mind as a coexisting haematological diseases in young patients with inborn errors of metabolism. In conclusion, ACD and nutritional anaemias are the most prevalent anaemias seen in patients with inborn errors of metabolism. Early detection of the disease, early administration of specific diet, and close monitoring of the patients are very important factors to prevent the development of haematological diseases in patients with inborn errors of metabolism.
Barth syndrome presenting with acute metabolic decompensation in the neonatal period
Authors: Donati Maria Alice , Malvagia Sabrina , Pasquini Elisabetta , Morrone Amelia , Marca Giancarlo La , Garavaglia Barbara , Toniolo Daniela , Zammarchi Enrico
Published: August 2006

We describe two patients affected by Barth syndrome. Their symptoms became manifest on respectively the third and first day of their lives. Clinical presentation included poor sucking, lethargy, hypotonia, hypothermia and cardiomyopathy. Laboratory findings such as hypoglycaemia, metabolic acidosis, elevated transaminases, hyperlactacidaemia and mild hyperammonaemia pointed to an inborn error of energy metabolism with possible mitochondrial involvement. Molecular analysis of the TAZ (G4.5) gene showed the c.877G > A mutation leading to the G197R amino acid substitution in patient 1, and the new splice donor c.829 + 1G > A genetic lesion in patient 2.
Identification of human low‐density lipoprotein receptor as a novel target gene regulated by liver X receptor alpha
Authors: Ishimoto Kenji , Tachibana Keisuke , Sumitomo Mikako , Omote Shiho , Hanano Ikuko , Yamasaki Daisuke , Watanabe Yuichiro , Tanaka Toshiya , Hamakubo Takao , Sakai Juro , Kodama Tatsuhiko , Doi Takefumi
Published: August 2006

Liver X receptor alpha (LXRα) is a member of the nuclear receptor superfamily that is activated by oxysterols, and plays a pivotal role in regulating the metabolism, transport and uptake of cholesterol. Here, we demonstrate that LXRα also regulates the low‐density lipoprotein receptor (LDLR) gene, which mediates the endocytic uptake of LDL cholesterol in the liver. An LXR agonist induced the expression of LDLR in cultured hepatoblastoma cells. Moreover, the LDLR promoter contained an LXR response element that was recognized by LXRα/RXRα (retinoid X receptor alpha) heterodimers in hepatoblastoma cells. These results suggest a novel pathway whereby LXRα might modulate cholesterol metabolism.
Of Contingencies and Breaks: The US American South as an Anomaly in the Debate on Multiple Modernities
Authors: Knöbl Wolfgang
Published: August 2006

This article argues that Shmuel N. Eisenstadt’s theoretical framework contains some elements of modernization theory threatening to neglect the contingencies of social processes and the possible breaks within historical trajectories. This is demonstrated via an analysis of the history of the US-American South that cannot be interpreted with an Eisenstadtian framework without seriously misrepresenting this particular region. It is argued that the development of “Dixie” was not a predetermined process which led to a smooth integration into US-society, but a path which was decisively influenced by many unforeseen factors and events in various periods of its history.
Surgical management of only hearing ears with positive indications
Authors: Sakagsami M , Muto T , Adachi O , Mishiro Y , Fukazawa K
Published: August 2006

Positive surgical indications for an only hearing ear were evaluated in order to improve patients' quality of life. Fifteen cases of surgery involving an only hearing ear over the past eight years were retrospectively reviewed. Of eight perforated chronic otitis media cases, seven underwent type one tympanoplasty and one underwent simple underlay myringoplasty regardless of otorrhoea at the time of surgery. Of six cholesteatoma cases, two received the canal wall up method and four received the canal wall down method. Ossiculoplasty was carefully performed in six cases. Hearing was improved in seven cases, whereas it remained unchanged in seven cases and deteriorated in one case. Of nine patients, two did not need a hearing aid after surgery. Five patients with severe combined hearing loss (>90 dB) were able to communicate with a hearing aid, alleviating their anxiety regarding hearing loss. Only hearing ears with chronic otitis media and cholesteatoma can be successfully treated by tympanoplasty with or without ossiculoplasty.
Pathogenetic mechanisms of venous congestion after the Fontan procedure
Authors: Buchhorn Reiner , Bartmus Dietmar , Buhre Wolfgang , Bürsch Joachim
Published: August 2006

Background: The hemodynamic status after a Fontan type procedure for definitive palliation of functionally univentricular hearts is dominated by a high central venous pressure, which seems to be one of several factors responsible for venous congestion appearing as a frequent complication in the early and late postoperative course. The purpose of our study was to find other hemodynamic parameters correlating with the presence of venous congestion and effusions in these patients. Methods: We compared the hemodynamic data of 18 patients who had an uneventful long-term course after a Fontan type procedure with the respective data of 10 patients who developed symptoms of venous congestion in the immediate postoperative period. Based on a theoretical model, we developed an algorithm to calculate mean hydrostatic capillary pressure from mean arterial pressure, systemic vascular resistance index and central venous pressure. Results: Pulmonary vascular resistance index (2.1 ± 1.0 mmHg L-1 min m2), mean left atrial pressure (9.7 ± 4.0 mmHg) and cardiac index (3.6 ± 0.6 1/min/m2) are mainly normal in patients with venous congestion in the immediate postoperative period, but mean hydrostatic capillary pressure is significantly higher compared to patients without venous congestion (24.3 ± 3.1 vs 18.3 ± 4.0 mmHg). Lower mean hydrostatic capillary pressures in these patients are due to a highly significant increase of systemic vascular resistance index (18.6 ± 4.2 versus 33.6 ± 6.6 mmHg L-1 min m2) and a concomitant decrease of cardiac index to 2.4 ± 0.3 1/min/m2. Conclusions: The increase of mean hydrostatic capillary pressure, caused by high central venous pressures but also by relatively low systemic vascular resistance indexes, seems to be the hemodynamic key parameter responsible for venous congestion and effusions in patients after a Fontan type procedure in the immediate postoperative period.
The effect of implantation of aortic stents on compliance and blood flow. An experimental study in pigs.
Authors: Pihkala Jaana , Thyagarajan Ganeshakrishnan K. , Taylor Glenn P. , Nykanen David , Benson Lee N.
Published: August 2006

Balloon dilation of coarctation of the aorta has been found to be an effective modality for treatment. Recently, in the older child and adult, implantation of endovascular stents has been considered a clinical alternative to dilation alone. Little is known, however, of the effect of implantation of stents on aortic compliance. To investigate this impact of implantation, we studied 18 piglets, divided into experimental and control groups. At median weight of 14 kg, 2 pairs of ultrasonic crystals were implanted on the aortic wall. After 1 week, all animals underwent catheterization. In the experimental group, a 3 cm long balloon expandable stent was implanted in the descending thoracic aorta between the pairs of crystals. Measurements of arterial pressure and dimensions were performed before implantation and immediately thereafter, and at follow-up catheterization. The index of stiffness, β, and the the elastic modulus of aortic pressure-strain, were calculated as indexes of arterial compliance. The change in compliance during the period of study was not different between groups. At follow-up, no difference was observed between groups in the velocity of the aortic pulse wave, the augmentation index, or the maximum velocity of flow of blood. The stents remained patent and did not affect aortic growth or medial wall thickness. There was no difference between groups in levels of plasma renin activity and serum aldosterone. In this animal model studied over the short term, therefore, implantation of stents does not affect aortic compliance. Further studies are required to elucidate the long term effects of stents on the hemodynamics affecting the aortic wall and local flow dynamics.
The repeatability of echocardiographic determination of right ventricular output in the newborn
Authors: Tsai-Goodman B. , Martin R. P. , Marlow N. , Skinner J. R.
Published: August 2006

Background: Non-invasive measurement of left ventricular output has been shown to be a repeatable technique. Little is known about the repeatability using echocardiography in determining pulmonary arterial diameters or right ventricular output. Aims: To find the most repeatable point at which to measure pulmonary arterial diameter, and to compare the repeatability of determining right ventricular output with left ventricular output. Methods: We assessed the Intra-observer and inter-observer repeatability for measuring the diameter of the pulmonary trunk in 24 term and 26 preterm infants, respectively. Interobserver repeatability was assessed for the diameters of the pulmonary trunk and aorta, for stroke distance, and for left and right ventricular output. Results: The coefficients of variation for intra-observer repeatability were 4%, 7.5% and 9% respectively for measurements of the pulmonary valve, the pulmonary trunk, and the right ventricular outflow tract. There were significant differences between observers for measurement of the pulmonary trunk (p< 0.001) and right ventricular outflow tract (p= 0.011) but not for the pulmonary valve measured in either its long (p= 0.22) or short axis (p= 0.22). Significant differences between observers were also found for the pulmonary stroke distance measured in the long axis (p= 0.004) and aortic diameter at end-diastole (p< 0.001). The other parameters did not differ significantly and were used to calculate right and left ventricular output, respectively. Mean left ventricular output was 241 mls/kg/min, with mean differences between observers of 0.6 mls/kg/min (95% confidence interval (CI): −39.2 to 40.3 mls/kg/min). Mean right ventricular output was 255 mls/kg/min, with mean differences of 0.3 mls/kg/min (95% CI: −24.1 to 23.4 mls/kg/min). Conclusion: Measuring the diameter of the pulmonary trunk at the base of the valvar hinge points was most repeatable. Repeatability of right ventricular output was similar to that of left, with absolute values similar to those published by other workers.
Endomyocardial fibrosis in children
Authors: Santos Cleusa Lapa , Moraes Carlos R. , Santos Frederick Lapa , Moraes Fernando , Filho Djair Brindeiro
Published: August 2006

We describe 10 children with endomyocardial fibrosis who underwent surgical treatment between 1978 and 1999. Seven were male and 3 female, with an age range from 4 to 15 years, having a mean age of 11 years. All were in the final stage of heart failure. Three had biventricular disease, 6 had involvement of the right ventricle alone, and one had endomyocardial fibrosis confined to the left ventricle. There were 3 deaths (30%) in the postoperative period due to low cardiac output. The 7 survivors were followed up for a period ranging from 12 to 168 months, with a mean of 72 months. Two late deaths have occurred resulting from heart failure and infectious endocarditis. Five (50%) children are still alive. Two required 3 reoperations for dysfunction of the inserted valvar prosthesis. One patient is in functional Class IV, and 4 are in Class II to III, despite intensive medical treatment. It is concluded that surgery for endomyocardial fibrosis is an essentially palliative procedure and, especially in children, the results of surgical treatment leave much to be desired.
Constrictive chronic pericarditis in children
Authors: Ferreira S M A Gomes , Ferreira A Gomes , do Nascimento Morais A , Paz W Siriano , Silveira F A Alves
Published: August 2006

Constrictive pericarditis is a uncommom disease in children. We have now encountered pericardial thickening as the cause of severe constrictive physiology in two patients, one also having haemodynamic features of restrictive cardiomyopathy. Both patients, who had refractory ascites and evidence of increased systemic venous pressure, underwent Doppler echocardiography, cardiac catheterisation, and magnetic resonance imaging. Resonance imaging failed to show any thickning of the pericardium, but cardiac catheterisation revealed diastolic equalisation of pressures in all four chambers, with only mild elevation of pulmonary pressure in the first patient, but nearly equalisation of diastolic pressure, and a very high pulmonary arterial pressure with a difference of 7 mm Hg between the end diastolic pressures in the two ventricles in the second patient. Doppler revealed a restrictive pattern of mitral inflow, with high E and small A velocities and a short deceleration time. The clinical background did not suggest pericardial disease in either of the patients. We conclude that a careful search is needed to uncover constrictive pericarditis when there is no previous disease which may suggest late pericardial constriction. The haemodynamic features of restrictive cardiomyopathy can co-exist with pericardial restriction, and differentiation between the two entities is critical in view of the diverse management and prognosis of the two conditions.
Oxygen free radicals in children with acute rheumatic fever
Authors: Oran Bülent , Atabek Emre , Karaaslan Sevim , Reisli Ýsmail , Gültekin Fatih , Erkul Ýbrahim
Published: August 2006

We have investigated the relationship between oxygen free radicals and acute rheumatic fever with regard to diagnosis of the disease process. At the time of diagnosis, we measured the levels of reactive oxygen molecules in the plasma, this being a parameter for oxygen free radicals, and discovered the levels to be significantly higher when compared with those measured in a control group (P< 0.05). The levels measured in the plasma, however, were not statistically different among patients with and without carditis.

We found a progressive decrease in the levels measured in the plasma when patients with acute rheumatic fever were tested on the 15th, 30th and 90th days subsequent to diagnosis. By the 90th day, levels measured in the plasma were still higher, but no longer significantly elevated, when compared with the control group. The present study is preliminary, but raises the possibility that measurement of oxygen free radicals in the plasma could be used as a laboratory test for active state of acute rheumatic fever. Further investigations will be needed, nonetheless, to determine the clinical application of this technique.
Major intrahepatic veno-venous fistula after modified Fontan operation treated by transcatheter implantation of Amplatzer septal occluder
Authors: Szkutnik Malgorzata , Bialkowski Jacek , Knapik Piotr
Published: August 2006

Patients with complex congenital cardiac malformations who have been converted to the Fontan circulation with partial exclusion of the hepatic veins may develop progressive cyanosis because of formation of intrahepatic veno-venous malformations. We describe transcatheter closure of a major intrahepatic fistula in such a setting using an Amplatzer septal occluder delivered by the left jugular venous approach in a 5 year old boy.
Quantitative echocardiographic assessment of the performance of the functionally single right ventricle after the Fontan operation
Authors: Mahle William T. , Coon Patrick D. , Wernovsky Gil , Rychik Jack
Published: August 2006

Background: Performance of the functionally single right ventricle may deteriorate over time. Quantitative assessment of this chamber, however, is complicated by its asymmetric geometry. Automatic detection of borders, and the Doppler-derived index of myocardial performance, are echocardiographic techniques that allow for quantitative assessment regardless of ventricular shape. We sought to evaluate the mechanics of contraction and relaxation in the functionally single right ventricle using these parameters. Methods: We evaluated systemic ventricular function in 35 asymptomatic patients with functionally single right ventricle, having a mean age of 7.8 ± 3.1 years, who had undergone the Fontan procedure. We compared them with 32 age-matched normal controls using both automatic detection of borders and Doppler indexes. Results: When compared with the controls, the group with a functionally single right ventricle demonstrated diminished systolic function as evidenced by a lower fractional change in area (42.7 ± 10.1% vs. 54.6 ± 10.5%, p = 0.001), and diminished diastolic function, as demonstrated by a greater reliance on atrial contraction to achieve ventricular filling (32.0 ± 4.4% vs. 22.2 ± 4.1%, p = 0.001). The mean index of myocardial performance in those with functionally single right ventricles was also greater than in controls (0.41 ± 0.12 vs. 0.30 ± 0.05, p = 0.001), and the indexed ejection time was shorter (0.35 ± 0.05 vs. 0.39 ± 0.05, p = 0.01), suggesting less efficient ventricular mechanics. Conclusions: These data demonstrate that the systolic and diastolic properties of the functionally single right ventricle differ significantly from those of the normal systemic left ventricle. Use of the echocardiographic techniques provide insight into ventricular mechanics in patients with functionally single ventricles, and may be valuable tools for serial quantitative follow-up.
Bubble contrast echocardiography in detecting pulmonary arteriovenous malformations after modified Fontan operations
Authors: Larsson Eva Strömvall , Solymar Laszlo , Eriksson Bengt O. , de Wahl Granelli Anne , Mellander Mats
Published: August 2006

The development of pulmonary arteriovenous malformations is a well-known complication after Fontan operations, and may result in significant morbidity due to increasing arterial desaturation. We compared the use of bubble contrast echocardiography and pulmonary angiography in detecting such malformations. We also examined which anatomical and haemodynamic variables were associated with their development. Our study includes 20 patients who had undergone modified Fontan procedures, 10 with atriopulmonary and 10 with total cavopulmonary connections, in Gothenburg between 1980 and 1991. All patients underwent cardiac catheterisation and pulmonary angiography. Bubble contrast echocardiography was performed at the same time, with injection of agitated polygelin colloid solution (Haemaccel, Hoechst) into the right and left pulmonary arteries, respectively. Transoesophageal echocardiography was used to detect the appearance of bubble contrast in the pulmonary venous atrium. The aim was also to evaluate the role of hepatic venous blood. Of the 20 patients, 9 (45%) had a positive contrast echocardiography study, compared with only 2 (10%) detected by pulmonary angiography. Patients with positive contrast echocardiography had a significantly lower arterial oxygen saturation than those with negative studies, both at rest (88% vs 95%, p < 0.01) and during exercise testing (78% vs 89%, p = 0.01). Bubble contrast echocardiography is much more sensitive in detecting pulmonary arteriovenous malformations than pulmonary angiography. By injecting echo contrast into the right and left pulmonary arteries, the method can be made highly selective. Pulmonary arteriovenous malformations develop much more frequently in patients with the Fontan circulation than previously reported.
Quantification of morphologic and hemodynamic severity of coarctation of the aorta by magnetic resonance imaging
Authors: Gutberlet Matthias , Hosten Norbert , Vogel Michael , Abdul-Khaliq Hasim , Ehrenstein Tilman , Amthauer Holger , Hoffmann Titus , Teichgräber Ulf , Berger Felix , Lange Peter , Felix Roland
Published: August 2006

Objective: As the morpholgic severity of coarctation of the aorta is difficult to assess, especially after previous repair, the value of the technique of multiplanar reconstruction of magnetic resonance imaging data to achieve a 3-dimensional reconstruction of the aortic arch was evaluated and compared to hemodynamic measurements. Methods and Results: We performed 30 examinations in 27 patients aged from 6 to 54 years, with a mean of 21 years, by magnetic resonance imaging using a 1.5 Tesla scanner with a standard body coil. Measurements of flow across the coarctation were performed using phase! shift velocity mapping, and peak velocity was calculated at the site of stenosis. Aortic cross-sectional area before, at, and beyond the stenosis was reconstructed 3-dimensionally to calculate a percentage degree of stenosis. Morphologic severity of stenosis was correlated to invasively assessed hemodynamic gradients and morphologic data from biplane angiography in 23 patients. Among the 30 examinations, 24 patients had been previously treated by either surgery, in 17 patients, or balloon dilation, while 6 had native coarctation. 3-dimensional reconstruction was possible in all and better delineated the anatomy concerning the hemodynamic relevance of stenoses even as compared with biplane angiography. The correlation between severity of narrowing assessed by diameter measurements in the biplane angiography and 2-dimensional magnetic resonance imaging was r = 0.94, and multiplanar reformation with 2-dimensional magnetic resonance imaging was r = 0.87 with a tendency of higher grading with the 3-dimensional technique (p = 0.0001). The correlation of 2-dimensional magnetic resonance imaging with invasively measured hemodynamic gradients was r = 0.67 versus r = 0.74 for the areas assessed by multiplanar reformation, indicating that the hemodynamic relevance of a morphological approach to evaluate the degree of a stenosis should better be assessed 3-dimensionally. Conclusions: The 3-dimensional reconstruction of the morphologic severity of coarctation offers additonal information over conventional imaging especially in patients with kinking, complex geometry, or collaterals,in whom hemodynamic measurements can become unreliable.
Sarcoma of the mitral valve causing coronary arterial occlusion in children
Authors: McElhinney Doff B. , Carpentieri David F. , Bridges Nancy D. , Clark Bernard J. , Gaynor J. William , Spray Thomas L.
Published: August 2006

Primary tumors of the cardiac valves are rare. One of the most common reasons that left-sided cardiac tumors come to clinical attention is embolization to the systemic circulation. We present two children who suffered left coronary arterial occlusion due to embolization of a sarcoma of the mitral valve. A 6-year-old female who had been admitted to the hospital after cerebrovascular embolization of a fragment of sarcoma of the mitral valve experienced sudden cardiovascular collapse due to occlusion of the left coronary artery. She was placed on extracorporeal membrane oxygenation, and underwent coronary embolectomy and resection of the tumor from the mitral valve and its tendinous cords. Left ventricular function did not improve, and she underwent orthotopic heart transplantation. On follow-up 32 months after transplant, the patient is well, with no evidence of recurrence of or metastasis from the tumor. The tumor arose from the leaflets and tendinous cords of the mitral valve, and was composed grossly of multiple white nodules. Histopathologic evaluation disclosed fragments composed predominantly of peripheral spindle cells in an extensive fibromyxoid stroma. The mildly pleomorphic cells of the tumor gradually blended with adjacent pieces of the mitral valvar leaflet and tendinous cords. Immunohistochemical studies revealed strong staining for vimentin, smooth muscle actin, muscle specific actin, and myoglobin, suggesting myogenic differentiation. The other patient was a 2½-year-old female who died suddenly at home. Grossly and histologically, the tumor was essentially identical to the first case, and there was a 3 cm string-like extension passing into the orifice of the left coronary artery. To put the cases in context, we compare them with other descriptions of this rare type of tumor.
Use of tissue harmonic imaging in pediatric echocardiography
Authors: McMahon Colin J. , Fraley J. Kennard , Kovalchin John P.
Published: August 2006

Tissue harmonic imaging improves the quality of images in adults with poor acoustic windows, but its utility in children has yet to be evaluated. The use of fundamental and harmonic imaging were compared in 70 children with poor echocardiographic windows. Scores were higher for harmonic in comparison to fundamental imaging for all views. Harmonic imaging improves the visualization of cardiac structures over fundamental imaging in children with poor echocardiographic windows.
Transcatheter occlusion of a large coronary arterial fistula with new detachable platinum microcoils
Authors: Buheitel Gernot , Ludwig Josef , Hofbeck Michael
Published: August 2006

We report a 17 year old boy with a large fistula from the right coronary artery to the right ventricle. The fistula consisted of two major branches. The smaller branch could be embolised with three detachable platinum microcoils without problems. The high flow of blood in the larger branch, however, prevented conventional occlusion using coils. Interventional occlusion of this branch was achieved in a second attempt. Following creation of an arterio-venous wire-loop, we advanced a balloon catheter into the distal end of the fistula. Under temporary occlusion of the fistula, complete closure was achieved by delivery of 7 detachable platinum microcoils. Thus, even large coronary arterial fistulas can be closed safely with these new platinum detachable microcoils. The procedure, however, requires temporary control of the flow of blood by balloon occlusion.
Use of a cutting balloon catheter to dilate resistant stenoses in major aortic-to-pulmonary collateral arteries
Authors: Mertens Luc , Dens Jo , Gewillig Marc
Published: August 2006

We report the successful use of a cutting-balloon catheter in dilating stenoses in major systemic-to-pulmonary collateral arteries which had been resistant to high pressure balloons. After dilation using the cutting balloon, we implanted stents to produce a marked improvement in both pulmonary blood flow and arterial saturation. The technique provides useful palliation for patients having such stenotic collateral arteries.
Prevalence of asymptomatic coronary arterial abnormalities detected by angiography in grown-up patients with congenital heart disease
Authors: Koifman Bella , Egdell Rob , Somerville Jane
Published: August 2006

Aims: Coronary arterial abnormalities, congenital and acquired, may co-exist with structural congenital malformations of the heart. This study analyses information obtained from coronary angiography in grown-up patients with congenital cardiac disease undergoing cardiac catheterisation. Methods and Results: We studied 448 patients, of whom 181 (40%) had selective coronary angiography. This was undertaken as a routine measure in 165 (37%), and because of clinical indications in 16 (4%). Aortic root angiography was carried out in 107 (24%). Coronary arterial abnormalities were demonstrated in one-third of those undergoing selective angiography, and in 69% of those with a clinical indication for angiography, compared with 30% who had a routine procedure. In those patients undergoing aortography alone, abnormalities were recognized in 17%, while the angiographic images were inconclusive in 24%. In the remaining 59%, no abnormality was apparent, but only the proximal coronary arteries could be seen clearly. In total, congenital abnormalities of the coronary arteries were found in 11% of the patients, acquired lesions were demonstrated in 5%, and surgically acquired lesions in 2%. Conclusion: Routine coronary angiography during catheterization of grown-up patients with congenital heart disease revealed a high incidence of abnormalities of the coronary arteries. Selective injection into the arteries had a higher sensitivity than aortography. Consideration should be given to performing routine coronary arteriography during invasive investigation of patients with congenital cardiac disease, as it provides useful and often unexpected information, which may be valuable for the interpretation of symptoms and the planning of subsequent surgery.
Coil embolization of iatrogenic arterio-venous fistula from pulmonary collateral artery to subclavian vein
Authors: Radford Dorothy , Slaughter Richard
Published: August 2006

A young woman with surgically treated tetralogy of Fallot with pulmonary atresia, with multiple aorto-pulmonary collateral arteries, developed an arteriovenous fistula subsequent to transvenous insertion of an automatic implantable defibrillator via the left subclavian vein. The fistula extended between this vein and a systemic-to-pulmonary collateral artery arising from the subclavian artery. Unilateral peau d'orange, and painful congestion of the left arm and breast, ensued. These were cured by coil embolization of a fistula-related aneurysm.
Approach to the neoaortic valve for replacement after the arterial switch procedure in patients with complete transposition
Authors: Yoshizumi Ko , Yagihara Toshikatsu , Uemura Hideki
Published: August 2006

We report our experience of aortic valvar replacement subsequent to the arterial switch procedure, incorporating the Lecompte maneuver, in patients with complete transposition. The anterior wall of the neoaorta was incised in continuity with the posterior wall of the pulmonary trunk. The aortic root was reconstructed with or without augmentation using a patch after the operative procedures to the aortic valve. With this approach, the neoaortic root could readily be exposed without extensive dissection, and valvar replacement was safely achieved. These patients experienced no postoperative complications.
Cardiac diverticulum and omphalocele: Cantrell's pentalogy or syndrome
Authors: Halbertsma Feico J. J. , van Oort Anton , van der Staak Frans
Published: August 2006

Omphaloceles and left ventricular diverticulums are rare disorders. Although either is known to occur on its own, the combination is highly suggestive of the so-called pentalogy of Cantrell. This syndrome is a combination of deformities involving midline structures, with exteriorisation of the heart, or ‘ectopia cordis’, as the most severe malformation. A cause has yet to be identified, though genes located on the X-chromosome may be involved. We discuss a neonate who presented with an omphalocele and a palpable diverticulum of the left ventricle. An omphalocele, especially when above the umbilicus, is an indication for further investigation for deformities as seen in the spectrum of Cantrell's pentalogy, especially cardiac malformations and anterior diaphragmatic herniation. A left ventricular diverticulum is usually associated with Cantrell's syndrome. When found, it is usually accompanied by other intracardiac malformations, so that again further examination is indicated. In our patient, there was an atrial septal defect within the oval fossa, along with a ventricular septal defect and unobstructed albeit anomalous venous pulmonary return to the left atrium. Early surgical intervention seems to be indicated, as spontaneous rupture, arrhythmias, and thromobogenicity of the ventricular diverticulum have all been reported.
Aortopulmonary collateral arteries in a child with trisomy 21
Authors: Holzer Ralf , Ladusans Edmund , Malaiya Nilima
Published: August 2006

We describe an infant born prematurely at 30 weeks gestation with Down's syndrome who became dependent on oxygen at 3 weeks of age after an uneventful initial neonatal period. There had been no evidence of bronchopulmonary dysplasia. An isolated aortopulmonary collateral artery of moderate size was mistakenly diagnosed as persistent patency of the arterial duct on echocardiography, and subsequently successfully occluded using two coils with an excellent clinical result. To the best of our knowledge, this is the first description of a congenital aortopulmonary collateral artery in a symptomatic infant with Down's syndrome and no evidence of bronchopulmonary dysplasia. We discuss the possible etiologies of these collateral arteries. It is important to include aortopulmonary collateral arteries in the differential echocardiographic diagnosis of an arterial duct.
Use of an Amplatzer ductal occluder to close a persistent left superior caval vein which reopened after a total cavopulmonary anastomosis
Authors: Seghaye Marie-Christine , Wainwright Uwe , von Bernuth Götz
Published: August 2006

A 7-year-old boy developed increasing cyanosis after a total cavopulmonary connection with a 3mm fenestration in the baffle. Catheterisation performed 4 years and 7 months after the operation showed reopening of a left superior caval vein draining into the pulmonary venous atrium. Due to the large size of the left superior caval vein, and the absence of intrinsic stenosis, we chose to use an Amplatzer ductal device to occlude the reopened vein. The procedure was safe and successful.
Comparison of an intravenous pulse of methylprednisolone versus oral corticosteroid in severe acute rheumatic carditis: a randomized clinical trial
Authors: Nassri Câmara Edmundo José , Vieira Braga Júlio César , Alves-Silva Luiz Sérgio , Câmara Gabriel Ferreira , da Silva Lopes Antonio Alberto
Published: August 2006

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.
Clinical features of hypertrophic cardiomyopathy in the young
Authors: Bruno Eva , Maisuls Héctor , Juaneda Ernesto , Moreyra Eduardo , Alday Luis E.
Published: August 2006

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.
Brain natriuretic peptide can be a useful biochemical marker for myocarditis in patients with Kawasaki disease
Authors: Kawamura Takashi , Wago Masakuni
Published: August 2006

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.
Successful surgical repair of Uhl's anomaly
Authors: Azhari Nawal , Assaqqat Mervat , Bulbul Ziad
Published: August 2006

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.
Transcatheter closure of defects within the oval fossa using the Amplatzer® Septal Occluder
Authors: Latiff Haifa Abdul , Alwi Mazeni , Samion Hasri , Kandhavel Geetha
Published: August 2006

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.
Non-contact mapping and ablation of tachycardia originating in the right ventricular outflow tract
Authors: Paul Thomas , Blaufox Andrew T. D. , Saul J. Philip
Published: August 2006

We performed an electrophysiological study, using non-contact mapping, in an 8-year-old girl weighing 39.9 kg who had suffered recurrent symptomatic episodes of exercise-induced non-sustained ventricular tachycardia. Color-coded isopotential maps of the ventricular tachycardia identified the area of earliest endocardial activation high and anterior in the right ventricular outflow tract. Although partial deflation of the balloon was required to position the ablation catheter at the earliest site of activation, this site was still identified accurately, as demonstrated by termination of the ventricular tachycardia and ectopy upon mechanical pressure, as well as application of radiofrequency current.

In this young patient, precise mapping of the earliest endocardial activation using the non-contact mapping system was safe and effective, allowing successful radiofrequency ablation of the tachycardia.
“Bail-out” stenting for acute obstruction of a modified Blalock-Taussig shunt following selective angiography
Authors: Tomita Hideshi , Hayashi George , Echigo Shigeyuki
Published: August 2006

A 3-year-old boy developed acute obstruction of a left modified Blalock-Taussig shunt following selective power injection of contrast in the shunt. Balloon dilation was ineffective due to rapid recoil of the narrowed segment, but implantation of a stent effectively abolished the obstruction. The obstruction itself may have been produced by an intimal flap caused by the power injection.
Evidence for lack of myocardial injury in children with acute rheumatic carditis
Authors: Williams Richard V. , Minich L. LuAnn , Shaddy Robert E. , Veasy L. George , Tani Lloyd Y.
Published: August 2006

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.