New Insight to the Pathogenetic Mechanism of Kawasaki Disease (KD): the Relationship between Clinical Diversity and Genetic Heterogeneity

No abstract available.

Erratum: Pulmonary stenosis and pulmonary regurgitation: both ends of the spectrum in residual hemodynamic impairment after tetralogy of Fallot repair / 소아과

In the Figs. 1, 2, and 4 of this article, we found that labels of x and y axes were unintentionally misprinted.

Pharmacokinetics and safety profiles of tadalafil/tamsulosin HCl fixed-dose combination capsule under fasted and fed condition in healthy volunteers

Co-administration of tadalafil and tamsulosin HCl in patients with benign prostate hyperplasia and erectile dysfunction is increasing in clinical settings. Development of fixed-dose combination (FDC) of tadalafil and tamsulosin HCl could contribute to improving patients' adherence and treatment efficacy. We evaluated the pharmacokinetics and safety profiles of a newly developed fixed-dose combination capsule of tadalafil 5 mg/tamsulosin HCl 0.4 mg in comparison with co-administration of each formulation in healthy volunteers under fasted and fed conditions. Two randomized, open-label, single-dose, two-way, crossover studies were completed in 29 subjects under fasted condition, and 33 subjects under fed condition. Serial blood sample collection for PK analysis was conducted up to 72 hours after dosing, and PK parameters were calculated using non-compartmental analysis. Geometric mean ratios and 90% confidence intervals of the C(max) and AUC(last) were used to evaluate comparative bioavailability. In both fasted and fed condition studies, the bioequivalence was established. The most common adverse drug reactions were orthostatic hypotension and headache with no statistical difference between treatment groups. All subjects with orthostatic hypotension recovered at follow-up test. Although changes in vital signs from baseline were statistically significant, there were no subjects with systolic blood pressure < 90 mmHg and there were no clinically meaningful signs or symptoms associated. FDC of tadalafil and tamsulosin HCl can be an alternative to co-administration of individual drugs for providing better compliance. Changes in blood pressure should be kept in mind when tadalafil and tamsulosin HCl are co-administered in clinical settings.

Pulmonary stenosis and pulmonary regurgitation: both ends of the spectrum in residual hemodynamic impairment after tetralogy of Fallot repair / 소아과

Repair of tetralogy of Fallot (TOF) has shown excellent outcomes. However it leaves varying degrees of residual hemodynamic impairment, with severe pulmonary stenosis (PS) and free pulmonary regurgitation (PR) at both ends of the spectrum. Since the 1980s, studies evaluating late outcomes after TOF repair revealed the adverse impacts of residual chronic PR on RV volume and function; thus, a turnaround of operational strategies has occurred from aggressive RV outflow tract (RVOT) reconstruction for complete relief of RVOT obstruction to conservative RVOT reconstruction for limiting PR. This transformation has raised the question of how much residual PS after conservative RVOT reconstruction is acceptable. Besides, as pulmonary valve replacement (PVR) increases in patients with RV deterioration from residual PR, there is concern regarding when it should be performed. Regarding residual PS, several studies revealed that PS in addition to PR was associated with less PR and a small RV volume. This suggests that PS combined with PR makes RV diastolic property to protect against dilatation through RV hypertrophy and supports conservative RVOT enlargement despite residual PS. Also, several studies have revealed the pre-PVR threshold of RV parameters for the normalization of RV volume and function after PVR, and based on these results, the indications for PVR have been revised. Although there is no established strategy, better understanding of RV mechanics, development of new surgical and interventional techniques, and evidence for the effect of PVR on RV reverse remodeling and its late outcome will aid us to optimize the management of TOF.

Traumatic ventricular septal defect in a 4-year-old boy after blunt chest injury / 소아과

Traumatic ventricular septal defect (VSD) resulting from blunt chest injury is a very rare event. The mechanisms of traumatic VSD have been of little concern to dateuntil now, but two dominant theories have been described. In one, the rupture occurs due to acute compression of the heart; in the other, it is due to myocardial infarction of the septum. The clinical symptoms and timing of presentation are variable, so appropriate diagnosis can be difficult or delayed. Closure of traumatic VSD has been based on a combination of heart failure symptoms, hemodynamics, and defect size. Here, we present a case of a 4-year-old boy who presented with a traumatic VSD following a car accident. He showed normal cardiac structure at the time of injury, but after 8 days, his repeated echocardiography revealed a VSD. He was successfully treated by surgical closure of the VSD, and has been doing well up to the present. This report suggests that the clinician should pay great close attention to the patients injured by blunt chest trauma, keeping in mind the possibility of cardiac injury.

Anomalous origin of left coronary artery arising from the right coronary cusp presenting with chest discomfort and syncope on physical exercise / 소아과

Anomalous origins of coronary arteries are a rare type of disease among children. These anomalies can be categorized into 3 types according to the anatomical relationship of the aorta and pulmonary trunks. Among these types, the interarterial type, as observed in our case, needs early diagnosis and treatment, because it can increase the risk for the patient, causing sudden cardiac death in young individuals. Although there are controversies concerning the management of anomalous origins of the left coronary artery (LCA) in children, the result can be very beneficial, if treated accurately. Three well-known methods for correction of anomalous origins of LCA are re-implantation, coronary arterial bypass grafting (CABG), and unroofing. We report on the case of a 12-year-old girl who had chest discomfort and syncope with physical exercise and was later diagnosed with an anomalous origin of LCA by transthoracic echocardiography (TTE) and heart computed tomography (CT). She underwent a corrective operation by re-implantation, CABG, and unroofing.

Morphologic Characteristics and Relating Factors to the Need of Technical Modification in Transcatheter Closure of Large Atrial Septal Defect (> or =25 mm)

BACKGROUND AND OBJECTIVES: The rigid coupling between the delivery wire and the right atrial disk has been occasionally encountered during transcatheter closure of atrial septal defect (ASD). Therefore the device frequently makes a perpendicular angle, and the leading edge of left atrial disk slips through the defect and prolapses into right atrium (RA) before it is properly placed in the septum. The purpose of this study is to investigate relating factors to the need of technical modification in transcatheter closure of large ASD and to evaluate relevant morphologic characteristics of atrial septal rim in this situation. SUBJECTS AND METHODS: From July, 2003 to May, 2007, 312 patients underwent transcatheter occlusion of ASD with Amplatzer Septal Occluder(R) (ASO, AGA medical corporation, Golden Valley, MN, USA) at Yonsei Cardiovascular Center and among them 109 patients had large ASD (> or =25 mm) and these patients were enrolled in our study. Patients were divided into two groups according to the deploying methods of the device (Group I: standard method, Group II: modified methods). Assessments of the defects and its surrounding rims were made by echocardiography. RESULTS: There were no differences between 2 groups in age, body weight and height except for balloon-stretched diameter (stop-flow technique) and device size. Group II patients with modified methods showed larger balloon-stretched diameter and device size than group I patients with standard method. The mean length of anterosuperior (AS) rim in group II was significantly shorter than group I (p<0.05). As the size of the device used in procedure increased, there was a trend towards increase in the need of modified methods. CONCLUSION: This study shows that AS rim deficiency and the size of ASD may be the relating factors to the need of technical modification in transcatheter closure of ASD. Therefore, when the initial try with standard method is not successful in large ASD with deficient AS rim, we suggest that changing strategy of implantation may save time and efforts and possibly reduce the risk of complications associated with prolonged procedure.

Comparison of defect size measured by transthoracic and transesophageal echocardiography with balloon occlusive diameter measured during transcatheter closure of atrial septal defect / 소아과

PURPOSE: Accurate measurement of defect size is important in transcatheter closure of atrial septal defect (ASD). We performed this study to analyze the difference between the measured ASD size and balloon occlusive diameter (BOD) by transthoracic (TTE) or transesophageal echocardiography (TEE). METHODS: We investigated 78 patients who underwent transcatheter closure of ASD. The defect size and the distance between the surrounding structures were measured by TTE and TEE. The BOD was measured by TEE during cardiac catheterization. Clinical characteristics and echocardiographic data were compared and analyzed. RESULTS: The difference between BOD and diameter by TTE was 4.8+/-3.6 mm on short axis view, 5.4+/-3.2 mm on long axis view. The difference between BOD and diameter by TEE was 3.6+/-2.2 mm on short axis view, 4.2+/-3.1 mm on long axis view. The difference between BOD and the diameter of defects on TTE, TEE had statistically significant positive correlations with the age of the patients, distance between the, defect and posterior atrial septal wall, the distance between the defect and the mitral valve leaflet, and the diameter of defects and the length of the atrial septum on TTE (P<0.05). CONCLUSION: BOD of ASD can be estimated by the diameter on TTE and TEE. BOD is expected to measure larger, depending on the size of defects, the distance from surrounding structures and the location of defects on echocardiography. Our data offers important information on details of transcatheter ASD closure which can be helpful in predicting suitability and judging the procedural appropriateness during the procedure.

Late aortic root dilatation and aortic regurgitation in repaired tetralogy of fallot / 소아과

PURPOSE: Aortic valve or aortic root (AoRo) replacement is occasionally required because of AoRo dilatation and aortic regurgitation (AR) in repaired tetralogy of Fallot (TOF). We evaluated AoRo size and possible factors associated with its hemodynamic nature in patients with repaired TOF. METHODS: We investigated 130 repaired TOF patients more than 15 years of age who followed-up by echocardiography from January 2002 to December 2003. Of 130 patients, we identified 17 patients with AoRo dilatation, which was defined as ratio of expected AoRo size by standard nomogram (AoRo ratio) >1.5 (dilator group), and 113 TOF controls, with AoRo ratio <1.5 (non-dilator group). RESULTS: Mean indexed AoRo size (mm/m2) in the first echo was 24+/-3.2 in the dilator group and 18+/-3.4 in the non-dilator group (P<0.0001). AoRo rate of change (mm/year) from the first to latest echo study was 1.6+/-3.8 in dilator group and 0.05+/-1.6 in the non dilator group (P=0.0021). Patients from the dilator group showed a higher prevalence of pulmonary atresia (P=0.031) and a history of aortopulmonary shunt before repair (P=0.048), moderate to severe AR (P=0.0065), and increased left ventricular end-diastolic dimensions (P=0.003). Conclusions:A subset of patients late after TOF repair may show progressive dilatation of AoRo. To identify and prevent long-term sequelae in this patient group, regular follow-up and speculation about AoRo after TOF repair is recommended.

Stent implantation to relieve secondary pulmonary venous stenosis in total anomalous pulmonary venous connection: case report / 소아과

Pulmonary venous stenosis may be congenital or acquired. Regardless of its origin, the prognosis for patients affected with PVS remains poor. There have been many attempts to palliate PVS with little success. This report describes two patients with PVS which became evident after repair of total anomalous pulmonary venous connection. Intravascular stents were successfully implanted, but progressive restenoses in the stents occurred and eventually both of the patients died. The pertinent literature is reviewed.

Initial Experience with Large Jostent in the Treatment of Pulmonary Artery Stenosis with Congenital Heart Disease: Comparison of Clinical Results with Palmaz Stent

PURPOSE: The aim of this study was to assess the efficacy of Jostent (peripheral, large; JS) in the treatment of pulmonary artery stenosis with congenital heart disease (CHD) and report our initial experience with JS. METHODS: Seventy four large-sized stents in 70 patients with CHD were implanted from June 1996 to July 2004. Thirty eight Palmaz stent (large; PS) in 36 patients (PS group) and 36 JS in 34 patients (JS group) were used. Immediate and follow-up results were compared. RESULTS: All stent placements were successful except 1 procedure with long PS (P308) due to acute angle of passage to the lesion. In both groups, stenosis diameters increased (PS group; 4.1+/-1.3 to 10.3+/-2.0 mm, JS group; 4.2+/-1.9 to 9.9+/-2.9 mm), pressure gradients decreased (PS group; 23.7+/-13.9 to 2.6+/-4.5 mmHg, JS group; 23.8+/-20.8 to 2.6+/-4.5 mmHg) and perfusions to the affected lung improved significantly (PS group; 20.2+/-9.7 to 38.5+/-9.7%, JS group; 16.6+/-8.5 to 36.4+/-10.2%). Redilatation of the implanted stents were feasible and effective except 3 stents in PS group and 1 stent in JS group. There was no significant stenosis or thrombus formation caused by the protruded stents, but failure to get access into the stent for redilatation due to protruded stent orifice was occurred in 1 patient. No significant stent recoil or distortion was observed. CONCLUSION: The efficacy and safety of JS in the treatment of pulmonary artery stenosis with CHD is comparable with those of PS. The smooth tip design and flexibility of JS enhances feasibility of the procedure.

The Relationship of Pulmonary Regurgitation and Exercise Performance after Repair of Tetralogy of Fallot

PURPOSE: We investigated the relationship between severity of pulmonary regurgitation (PR), exercise capacity, right ventricular (RV) volume overload and RV function in the patients with long-term follow-up after repair of tetralogy of Fallot (TOF). METHODS: To evaluate exercise capacity, cardiopulmonary exercise test (CPX) was performed in 26 patients and 18 normal controls on a treadmill, and maximal oxygen consumption (VO(2max)) and anaerobic threshold (AT) were compared among the two groups. To assess severity of PR, RV volume and function, magnetic resonance imaging (MRI) study was performed in the patient group and the PR fraction (%), RV end-diastolic volume (EDV), end-systolic volume (ESV) and ejection fraction(EF) were measured. Patient group was divided into two subgroups by age and influences of PR on RV volume and function were compared among these subgroups. RESULTS: VO(2max) and AT were significantly decreased in the patients in comparison to the control subjects (28.9+/-10.4 vs 38.1+/-9.9 ml/kg/min, P=0.01; 0.98+/-0.53 vs 1.44+/-0.59 l/min, P=0.03). PR fraction inversely correlated with the VO(2max) (r=-0.58, P<0.01) and had a tendency toward inverse correlation with AT (r=-0.35, P=0.15). In young age group less than 15 years, no significant correlation between RVEDV, RVESV, corrected QRS duration (cQRS) and PR fraction (r=0.48, P=0.19; r=0.45, P=0.22; r=0.12, P=0.76) was observed, but in old age group, RV volume (RVEDV: r=0.73, P=0.01; RVESV: r=0.61, P=0.04) and the cQRS (r=0.66, P=0.03) were increased according to the severity of PR. RVEDV and RVESV showed inverse correlations with RVEF (r-0.59, P=0.003; r= -0.78, P<0.001), and RVEF showed positive correlation with VO(2max) (r=0.62, P=0.04). CONCLUSION: Patients in long-term follow-up after repair of TOF showed impaired exercise capacity than normal subjects. PR has a negative influence on the exercise tolerance in this group of patients, and the deleterious effects of PR on RV volume and QRS prolongation may related with the age and/or duration of PR. RV volume overload may deteriorate RV function and cause resultant exercise impairment.

A Case of Multiple Giant Coronary Aneurysms with Large Mural Thrombus due to Kawasaki Disease in a Young Infant / 소아과

Kawasaki disease is an acute systemic vasculitis of unknown origin. Giant coronary aneurysm is one of the most serious complications, although peripheral artery vasculitis can produce life-threatening events. Myocardial ischemia and infarction can be caused by coronary artery stenosis, aneurysm, and stagnation of blood flow in coronary arteries which triggers thromboembolism. Atypical presentation in young infants often interferes with prompt diagnosis and timely treatment, resulting in poor outcomes. We describe a 3-month-old infant with multiple giant coronary aneurysms with flow stagnation, stenosis and large mural thrombus due to Kawasaki disease. He presented with a prolonged course of severe coronary involvement in spite of all measures to reduce coronary complications. Finally, surgical intervention was tried because of the worsening coronary artery abnormalities. The patient died of acute cardiorespiratory failure shortly after weaning from cardiopulmonary bypass.

Giant Coronary Aneurysm with Stenosis and Thrombus Formation due to Kawasaki Disease: Treatment with Graft Stent

Kawasaki disease is an acute systemic vasculitis of unknown origin. Coronary aneurysm or ectasia is one of the most serious complications of Kawasaki disease. The major complication of Kawasaki coronary disease is myocardial infarction caused by thrombus formation inside the aneurysm or by organic obstructive lesion following the regression of aneurysm. Percutaneous balloon angioplasty, rotational ablation, directional coronary artherectomy, stent insertion and coronary artery bypass graft can be used to treat coronary artery stenosis or occlusion. We describe a 6-year old boy who had an episode of Kawasaki disease with giant coronary artery aneurysm diagnosed at the age of 3 years. Surveillance echocardiogram showed giant coronary aneurysm with stenosis and large mural thrombus in the proximal portion of left main coronary artery. So we inserted two polytetrafluoroethylene(PTFE) covered graft stent without complication.

Decision of Surgical Treatment Strategy for Hypoplastic Left Ventricle with Coarctation of Aorta

PURPOSE: The purpose of this study is to determine the feasibility of biventricular repair for hypoplastic left ventricle combined with coarctation of aorta and to provide strategy of surgical treatment. METHODS: The preoperative and postoperative dimension of mitral valve and left ventricle was compared for three patients with hypoplastic left ventricle combined with coarctation of aorta. Ventricular septal defect, atrial septal defect and patent ductus arteriosus were also present in all patients, and the age at the operation was 36, 15 and 11 days. The preoperative end-diastolic left ventricular volume was 13, 28, 24 mL/m2 respectively, and antegrade flow was observed in ascending aorta in all patients. RESULTS: All patients underwent repair of coarctation of aorta. In addition to coarctation repair, pulmonary arterial banding and atrial septal defect closure was performed in Case 1 and 2 respectively, leaving the ventricular septal defect unclosed. In case 3, the ventricular septal defect was closed with the coarctation repair. Case 1 had to undergo Norwood procedure due to inadequate growth of left ventricle and is waiting for univentricular repair. In Case 2 and 3, the left ventricular size increased and biventricular repair could be performed successfully. CONCLUSION: Left ventricular growth can be obtained by repair of coarctation and biventricular repair was feasible in selected cases of hypoplastic left ventricle combined with coarctation of aorta. Size and volume measurement of mitral valve and left ventricle with echocardiography or magnetic resonance image provide useful information to decide the surgical strategy for this group of patients.

Impact of Device Evolution in Transcatheter Closure of Patent Ductus Arteriosus Using Duct-Occlud Coils: Comparison of Mid-term Results / 소아과

PURPOSE: We reviewed the therapeutic results of various Duct-Occlud coils(pfm AG, Koln, Germany) to evaluate the efficacy of the most-recently modified Duct-Occlud coil(Nit-Occlud) in the transcatheter closure of patent ductus arteriosus(PDA), including large defects more than 4 mm in diameter. METHODS: Two hundred and five patients who underwent percutaneous PDA occlusion using Duct- Occlud devices from March 1996 to December 2003 were enrolled and four types of Duct-Occlud [Standard(S), Reinforced(R), Reinforced reverse cone(RR) and Nit-Occlud(N)] were used in this study. The patients were followed up by echocardiogram and physical examination before discharge, one month, six months and 12 months after the procedure. RESULTS: The rate of residual shunt according to the type of Duct-Occlud were as follows: S-54%, R-72%, RR-50%, N-14%(P4 mm). CONCLUSION: The transcatheter closure of PDA using Duct-Occlud was an effective treatment and our study revealed that a Nit-Occlud coil which showed higher rate of occlusion even in PDA with large diameters over than 4 mm, was a more effective modality compared to previous devices.

Neopterin as a Marker of Disease Activity in Childhood Acute Lymphocytic Leukemia / 대한소아혈액종양학회지

PURPOSE: Neopterin is a degradation product derived from guanosin triphosphate (GTP) during biosynthesis of tetrahydrobiopterin. It is produced by human monocytes/macrophages upon stimulation with interferon-gamma from activated T lymphocytes. Therefore, increased neopterin concentration suggests the activation of cell-mediated immune response during viral infections, autoimmune diseases, allograft rejection, immunodeficiencies and certain types of malignancy. In these diseases, increased neopterin concentrations in serum and urine correlate to the stage of disease and predict worse prognosis. It has been proved that in various malignant disorders, higher neopterin concentrations are associated with more rapid disease progression and are a valuable predictor of stage and extension of the tumor. METHODS: Serum neopterin concentrations were measured by ELISA test in 20 patients with acute lymphocytic leukemia (ALL) at diagnosis and at complete remission after induction chemotherapy, and in 20 normal children that served as the control group. RESULTS: Serum neopterin levels were significantly (P=0.021) increased in the ALL group at diagnosis (9.48 nmol/L) compared to the control group (4.49 nmol/L). In the ALL group, serum neopterin levels were significantly (P=0.015) decreased at complete remission state (6.84 nmol/L) compared to the time of diagnosis (11.96 nmol/L). CONCLUSION: Neopterin was shown to be a valuable indicator of disease activity in childhood ALL and will contribute to predicting the treatment response.

A Case of Microcephaly and Early-onset Nephrotic Syndrome: Galloway-Mowat Syndrome

The Galloway-Mowat syndrome, a rare inherited disorder, is characterized by congenital microcephaly with various neurological abnormalities and early onset of nephrotic syndrome with unresponsiveness to treatment, progressive deterioration in renal function and death in early lifetime. In this report, we describe a girl with microcephaly, seizures. and psychomotor retardation who developed nephrotic syndrome at 17 months of age.

A Case of Microcephaly and Early-onset Nephrotic Syndrome: Galloway-Mowat Syndrome

The Galloway-Mowat syndrome, a rare inherited disorder, is characterized by congenital microcephaly with various neurological abnormalities and early onset of nephrotic syndrome with unresponsiveness to treatment, progressive deterioration in renal function and death in early lifetime. In this report, we describe a girl with microcephaly, seizures. and psychomotor retardation who developed nephrotic syndrome at 17 months of age.

A Case of Linear and Whorled Nevoid Hypermelanosis with Intracranial Lipoma

Linear and whorled nevoid hypermelanosis(LWNH) is characterized by macules in streaks and whorls along Blaschko's lines, that are not preceded by inflammation. LWNH can present with various findings such as neurologic, musculoskeletal, ophthalmologic, facial and cardiac abnormalities. Intracranial lipoma is very rare condition, with an incidence of less than 1% of all intracranial tumors. We recently experienced a case of LWNH with intracranial lipoma of corpus callosum. We report this case with a brief review of the related literature.