• Clinical and Experimental Pediatrics
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• v.51 no.11
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• pp.1236-1240
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• 2008

Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with behavioral and learning problems to a lethal disease characterized by multiple malformations. Here, we describe a newborn male with ambiguous genitalia who was diagnosed to have type II SLOS during the neonatal period. A clinical examination revealed low levels of unconjugated estriol in the maternal serum, and a variety of fetal ultrasound anomalies, including prenatal growth retardation. After birth, the infant was diagnosed to have congenital heart disease (Tetralogy of Fallot with severe pulmonary artery stenosis), cleft lip and palate, micrognathia, postaxial polydactyly, ambiguous genitalia, and cataracts. Clinical investigation revealed extremely low plasma cholesterol levels and the presence of mutation (homozygote of p.Arg352Gln) in the DHCR7 gene. The patient underwent palliative heart surgery (to widen the pulmonary artery) and received intravenous lipid supplementation. Cholesterol levels increased slightly, but not to normal values. The patient died from cardiopulmonary failure and sepsis 72 days after birth. This report provides the first description of a Korean patient with SLOS confirmed by verification of DHCR7 gene mutation and illustrates the need for early recognition and appropriate diagnosis of this disease.

• Korean Journal of Radiology
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• v.22 no.5
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• pp.706-713
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• 2021

Objective: To evaluate the impact of surgical simulation training using a three-dimensional (3D)-printed model of tetralogy of Fallot (TOF) on surgical skill development. Materials and Methods: A life-size congenital heart disease model was printed using a Stratasys Object500 Connex2 printer from preoperative electrocardiography-gated CT scans of a 6-month-old patient with TOF with complex pulmonary stenosis. Eleven cardiothoracic surgeons independently evaluated the suitability of four 3D-printed models using composite Tango 27, 40, 50, and 60 in terms of palpation, resistance, extensibility, gap, cut-through ability, and reusability of. Among these, Tango 27 was selected as the final model. Six attendees (two junior cardiothoracic surgery residents, two senior residents, and two clinical fellows) independently performed simulation surgeries three times each. Surgical proficiency was evaluated by an experienced cardiothoracic surgeon on a 1-10 scale for each of the 10 surgical procedures. The times required for each surgical procedure were also measured. Results: In the simulation surgeries, six surgeons required a median of 34.4 (range 32.5-43.5) and 21.4 (17.9-192.7) minutes to apply the ventricular septal defect (VSD) and right ventricular outflow tract (RVOT) patches, respectively, on their first simulation surgery. These times had significantly reduced to 17.3 (16.2-29.5) and 13.6 (10.3-30.0) minutes, respectively, in the third simulation surgery (p = 0.03 and p = 0.01, respectively). The decreases in the median patch appliance time among the six surgeons were 16.2 (range 13.6-17.7) and 8.0 (1.8-170.3) minutes for the VSD and RVOT patches, respectively. Summing the scores for the 10 procedures showed that the attendees scored an average of 28.58 ± 7.89 points on the first simulation surgery and improved their average score to 67.33 ± 15.10 on the third simulation surgery (p = 0.008). Conclusion: Inexperienced cardiothoracic surgeons improved their performance in terms of surgical proficiency and operation time during the experience of three simulation surgeries using a 3D-printed TOF model using Tango 27 composite.

• Clinical and Experimental Pediatrics
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• v.45 no.2
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• pp.208-213
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• 2002

Purpose : The major cause of cardiac dysfunction, after open heart surgery for congenital heart disease, is perioperative myocardial injury. Cardiac troponin I is found only within the myocardial cell, so it can be used as a biochemical marker of the myocardial injury. We performed this study to evaluate the worth of cardiac troponin I as a biochemical marker reflecting the extent of perioperative myocardial injury and recovery. Methods : Thirty-four patients who had undergone elective open heart surgery of congenital heart disease(CHD) from April to July 2001 were enrolled in this study. We measured types of CHD, serial cardiac troponin I(baseline 1 day before operation, postoperative day 1, 2, 3, 7), duration of cardiopulmonary bypass(CPB), aortic cross clamping(ACC), intubation and postoperative hospital stay. Results : Compared with the baseline before operation, there was a significant, increase of cardiac troponin I on the postoperative day 1 and a significant gradual decrease on the day 2, 3, 7. The levels of cardiac troponin I were the highest in the transposition of great artery(TGA) repair on the postoperative day 1 and high in the tetralogy of Fallot(TOF), atioventricular septal defect (AVSD), ventricular septal defect(VSD) and atrial septal defect(ASD) repair with decreasing sequence. The longer duration of CPB, ACC and intubation, the higher of cardiac troponin I, but there were no significant correlations between cardiac troponin I levels and duration of hospital stay. Conclusion : Because there was significant increases or decreases of cardiac troponin I according to the perioperative time and types of the congenital heart disease, it is a worthy biochemical marker which reflects the extent of perioperative myocardial injury and recovery after open heart surgery.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.14 no.1
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• pp.36-40
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• 2018

CATCH22 syndrome or DiGeorge syndrome is a medical acronym of cardiac defects, abnormal facial appearances, thymic hypoplasia, cleft palate, and hypocalcemia. Patients with CATCH22 syndrome are susceptible to infection due to an absent or hypoplastic thymus and often have difficulties in maintaining good oral hygiene, which may require dental treatment. We present a case of dental treatment for the uncooperative child with CATCH22 syndrome under general anesthesia. A 4-year-old, 14.8 kg boy with CATCH22 syndrome visited Seoul National University Dental Hospital for dental check up. The patient had multiple caries requiring dental treatment. He experienced the corrective heart surgery due to Tetralogy of Fallot a few years ago. General anesthesia was planned because his heart rate and vital sign had shown unstable during the previous conscious sedation procedure. Dental restorative treatments were successfully performed and no complications were observed during and after the procedure. Safe and effective dental management of the patients with CATCH22 syndrome could be performed with the help of general anesthesia and careful monitoring.

• Pediatric Infection and Vaccine
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• v.23 no.3
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• pp.209-216
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• 2016

Purpose: This study aimed to evaluate and compare the characteristics of infective endocarditis (IE) between children and adults with congenital heart disease (CHD) at a single tertiary care center. Methods: In this retrospective medical record review, we extracted the demographic characteristics, diagnostic variables, and outcomes of patients diagnosed with IE and CHD between 2000 and 2016. Results: We identified a total of 14 pediatric patients (nine male; median age at diagnosis, 3 years). Of the 14 patients, six had a history of previous open heart surgery, while four had undergone tetralogy of Fallot repair, with transannular patch or Rastelli procedure. Among the 10 children with positive blood cultures, the most common isolated organism was Staphylococcus spp. (8/10, 80%). Eleven adult patients had IE and CHD. Among the adult patients, only four were diagnosed with CHD before IE, and ventricular septal defect was the most common CHD. The most common isolated organism was Streptococcus spp. (6/11, 55%). Compared with adult patients, pediatric patients had a higher incidence of previously diagnosed CHD (P=0.001), with Staphylococcus spp. as the causative organism (P=0.027). The median duration between the onset of symptoms and diagnosis of IE was 9 days in children and 42 days in adults (P=0.012). Conclusions: Significant differences with regard to the diagnosis and progress of IE were observed between children and adults. Age-adjusted and systematic reassessment may be necessary for the diagnosis and management of IE.

• Clinical and Experimental Pediatrics
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• v.50 no.7
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• pp.665-671
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• 2007

Purpose : The purpose of this study was to investigate the clinical features and outcome in newborns undergoing cardiac surgery. Methods : Eighty two neonates underwent heart surgery for congenital heart defect at Kyungpook National University Hospital between March 2000 and February 2006. Patient characteristics (sex, age, diagnosis), pre-operative conditions, operation type, postoperative complications and mortality were reviewed retrospectively. Results : In 82 patients, 41 (50%) were male. The mean age and weight at operation were 12 days and 3.2 kg, respectively. The common cardiac anomalies were complete transposition of the great arteries (TGA), Tetralogy of Fallot (TOF), pulmonary atresia with intact ventricular septum, and single ventricle variants. Fifty seven operations were performed with cardiopulmonary bypass and corrective surgery was done on 54 patients. Arterial switch operation and modified Blalock-Taussig shunt were most frequently performed as corrective and palliative operations, respectively. The early hospital mortality rate was 7%; the late mortality was 3.9%. Complications were acute renal insufficiency, delayed sternal closure, wound infection, arrhythmia, and brain hemorrhage. Conclusion : During the last 6 years, the outcomes of cardiac surgery for congenital heart defects in neonates improved by progress in perioperative, anaesthetic, surgical, and postoperative care.

• Journal of the korean academy of Pediatric Dentistry
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• v.42 no.1
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• pp.75-79
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• 2015

Pulmonary arterial hypertension (PAH) is a common complication of Congenital heart defects (CHD) with left-to-right shunts, and PAH with increased pulmonary vascular resistance (PVR) is associated with considerable morbidity and mortality. General anesthesia (GA) can be life-threatening in patients with PAH, because the positive pressure ventilation during GA increases pulmonary arterial pressure and decreases pulmonary blood flow. This may also lead to hypoxia. Therefore, spontaneous ventilation may be safer than positive pressure ventilation in patients with PAH. A five-year-old male child, weighing 11 kg, with medical history showing a total correction of Tetralogy of Fallot (TOF) in 2009 and ongoing treatment with hypertension (HTN) medicine since 2007, visited the Dankook University Dental Hospital. He had multiple dental caries, and the treatment was completed under sevoflurane insufflation sedation via nasal cannula. The patient remained sedated throughout the operation while maintaining normal vital signs and spontaneous respiration. In conclusion, sevoflurane insufflation sedation may be a safer alternative to GA for the dental treatment of patients with PAH.

• Journal of Chest Surgery
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• v.38 no.8 s.253
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• pp.583-588
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• 2005

Congenital tracheal stenosis can be a life-threatening disease, especially in cases involving the long-segment of the trachea. When patients are symptomatic immediately after birth or develop an accompanying complex cardiac anomaly, surgical repair can be a considerable challenge. We experienced a tracheoplasty in one early infant weighing 2.6 kg and one neonate who had ventilator dependency from long-segment congenital tracheal stenosis and congenital cardiac anomaly. One early infant, who had diffuse stenosis of distal trachea after ventricular septal defect closure, underwent resection and extended end to end anastomosis. One neonate who had diffuse stenosis of proximal trachea with tetralogy of Fallot (TOF), underwent slide tracheoplasty with total correction for TOF Postoperative chest computed tomography showed widely patent trachea. Both infants are now well without symptoms.

• Journal of Chest Surgery
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• v.38 no.4 s.249
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• pp.277-283
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• 2005

Arterial oxygen saturation $(SaO_2)$ instability frequently takes place after systemic-pulmonary shunt without shunt occlusion. We analyzed actual incidence and risk factors for $SaO_2$ instability after shunt operations, and possible mechanisms were speculated on. Material and Method: Ninety three patients, who underwent modified Blalock-Taussig shunt from January 1996 to December 2000, were enrolled in this study. Adequacy of shunt was verified in all patients, either by ensuing one ventricle or biventricular repair later on or by appropriate pulmonary artery growth on postoperative angiogram. Age, body weight, hemoglobin level at operation were 3 day to 36 years (median: 1.8 months), 2.5kg to 51kg (median: 4.1kg) and $10.7\~24.3$ gm/dL (median: 15.2 gm/dL) respectively. Preoperative diagnoses were functional single ventricle with pulmonary stenosis or atresia in 39, tetralogy of Fallot in 38 and pulmonary atresia with intact ventricular septum in 16. Pulmonary blood flow (PBF) was maintained pre-operatively by patent ductus or previous shunt in 64 and by forward flow through stenotic right ventricular outflow tract (RVOT) in 29. $SaO_2$ instability was defined as $SaO_2$ less than $50\%$ for more than 1 hour with neither anatomic obstruction of shunt nor respiratory problem. Result: 10 patients $(10.7\%)$ showed $SaO_2$ instability after shunt operation. After shunt occlusion was ruled out by echocardiogram, they received measures to lower pulmonary vascular resistance (PVR), which worked within a few hours in all patients. Risk factors for $SaO_2$ instability included older age at operation (p=0.039), lower preoperative $SaO_2$ (p=0.0001) and emergency operation (p=0.001). PBF through stenotic RVOT showed marginal statistical significance (p=0.065). Conclusion: $SaO_2$ instability occurs frequently after shunt operation, especially in patients with severe hypoxia pre-operatively or unstable clinical condition necessitating emergency operation. Temporary elevation of pulmonary vascular resistance is a possible mechanism in this specific clinical setting.

• Journal of Chest Surgery
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• v.31 no.12
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• pp.1183-1194
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• 1998

Background: From Sept. 1985 to Sept. 1997, 2,000 cases of open heart surgery(OHS) were performed in the Department of Thoracic & Cardiovascular Surgery, Pusan Paik Hospital, College of Medicine, Inje University. Material and Method: Among the total of 2,000 cases of OHS, 1532 cases were congenital heart disease(CHD) and 468 cases were acquired heart disease(AHD). The age distribution was 9 days(4.0kg) to 68 years in CHD and 11 to 66 years in AHD. In 1532 cases of CHD, there were 1403 acyanotic cases and 129 cyanotic cases. Result: The CHD cases consisted of 940 ventricular septal defects(61.4%), 324 atrial septal defects(21.1%), 112 tetralogy of Fallot(7.3%), 46 pulmonary stenosis(3%), 38 endocardial cushion defects(2.5%), 15 valsalva sinus ruptures(1%), 4 transposition of great arteries (0.3%), 4 double outlet right ventricles(0.3%), and etc. Corrective operations were applied for congenital heart disease with a result of 3.1% hospital mortality. Of 468 AHD, 381 cases were valvular heart diseases, 48 ischemic heart diseases, 12 cardiac tumors, 8 annuloaortic ectasias, 16 dissecting aortic aneurysms and etc. In the 381 valvular heart diseases, there were 226 single valve replacements(36 aortic valve replacements(AVR), 188 mitral valve replacements(MVR), and 2 tricuspid valve replacements(TVR), among these were 71 cases of double valve replacements(AVR & MVR), 54 cases of MVR with tricuspid valve annuloplasty(TVA), and 18 cases of AVR, MVR with TVA. The total implanted prosthetic valves were 466. In MVR, 123 St. Jude Medical valves, 90 Carpentier-Edwards valves, 65 CarboMedics valves, 42 Sorin valves and 16 other valves were used. In AVR, 68 St. Jude Medical valves, 36 CarboMedics valves, 14 Carpentier-Edwards valves and 9 other valves were used. Coronary Artery Bypass Surgery(CABG) were performed in 48 cases. The patterns of bypass graft were 14 patients of single vessel graft, 21 patients of two vessels graft, 10 patients of three vessels graft and 3 patients of four vessels graft. Conclusion: The hospital operation mortality rate of congenital acyanotic, cyanotic and acquired heart diseases were 2.0%, 15.5%, and 5.1% respectively. The overall mortality rate was 3.6%(72/2,000).