Gastric neurofibroma in von Recklinghausen disease : a cause of upper gastrointestinal bleeding

권보상,심정옥,서정기,양혜란,고재성,정성은,김우선,강경훈 대한소아청소년과학회 2006 Clinical and Experimental Pediatrics (CEP) Vol.49 No.2

Neurofibromatosis type 1 (von Recklinghausen disease, NF1) involves the central and peripheral nervous systems as well as the skin, bone, endocrine, gastrointestinal and vascular systems. The gastrointestinal neurofibroma associated with NF1 has been infrequently reported. We report our experience with a 15-year-old boy who had a gastric plexiform neurofibroma with upper gastrointestinal bleeding and underwent a tumorectomy because of massive upper gastrointestinal bleeding. We conclude that gastrointestinal bleeding and anemia in the setting of NF1 mandates complete endoscopic examination of the digestive tract to rule out neurofibromas. Surgical resection is the standard treatment. 위장관계의 신경섬유종의 발생빈도는 드물다고 알려져 있다. 저자들은 제1형 신경섬유종증의 15세 남자 환아에서 상부위장관 출혈로 발현한 위에 생기는 신경섬유종을 내시경 및 상부위장관조영술을 통해 진단을 내리고, 수술적 제거를 시행하였던 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Surgical Outcomes of Cor Triatriatum Sinister: A Single-Center Experience

김동희,권보상,김동희,최은석,윤태진,박천수 대한심장혈관흉부외과학회 2022 Journal of Chest Surgery (J Chest Surg) Vol.55 No.2

Background: We investigated surgical outcomes after the surgical repair of cor triatriatum sinister (CTS). Methods: Thirty-two consecutive patients who underwent surgical repair of CTS from 1993 through 2020 were included in this study. The morphological characteristics, clinical features, and surgical outcomes were described and analyzed. Results: The median age and body weight at operation were 9 months (interquartile range [IQR], 3–238 months) and 7.5 kg (IQR, 5.8–49.6 kg), respectively. There were 16 males (50%). According to the modified Lucas classification, type IA (classical CTS) was most common (n=20, 62.5%). Atrial septal defect was associated in 22 patients (68.8%) and anomalous pulmonary venous return in 8 patients (25%). Pulmonary hypertension was preoperatively suspected with a high probability in 18 patients (56.3%). There was 1 early death (3.1%) after emergent membrane excision and hybrid palliation in a high-risk hypoplastic left heart syndrome patient. There were no late deaths. The overall survival rate was 96.9% at 15 years post-repair. No early survivors required reoperation during follow-up. Most survivors (31 of 32 patients, 96.9%) were in New York Heart Association functional class I at a median follow-up of 74 months (IQR, 39–195 months). At the latest echocardiography performed at a median of 42 months (IQR, 6–112 months) after repair, no residual lesion was observed except in 1 patient who had moderate pulmonary hypertension (mean pulmonary arterial pressure of 36 mm Hg). Conclusion: Surgical repair of cor triatriatum could be performed safely and effectively with an extremely low risk of recurrence.

The Effect of Enalapril and Carvedilol on Left Ventricular Dysfunction in Middle Childhood and Adolescent Patients With Muscular Dystrophy

권혜원,권보상,김기범,채종희,박준동,배은정,노정일 대한심장학회 2012 Korean Circulation Journal Vol.42 No.3

Background and Objectives: In Duchenne and Becker muscular dystrophies, cardiac function deteriorates with time resulting in heart failure which is often fatal. We prospectively evaluated the effect of enalapril and carvedilol on left ventricular (LV) dysfunction in middle childhood and adolescent patients with muscular dystrophy. Subjects and Methods: Twenty-three patients with LV dysfunction (22 with Duchenne muscular dystrophy, 1 with Becker muscular dystrophy)were enrolled. We prescribed enalapril (13 patients) or carvedilol (10 patients) randomly from July 2008 to August 2010 and followed up the patients until September 2011. The changes in LV function parameters before and after the treatment were evaluated by echocardiography. Results: The mean age at the start of treatment with enalapril or carvedilol was 12.6±3.7 years (median 13 years), and mean follow-up duration was 20.1±8.9 months. In the enalapril group, LV fractional shortening (FS) increased from 25.8±2.1 to 26.6±3.0 (p=0.241). In the carvedilol group, LV FS increased from 26.4±1.1 to 28.6±4.2 (p=0.110). In all 23 patients, LV FS significantly increased from 26.1±1.7(before) to 27.6±3.7 (after treatment) (p<0.046). Indexed LV dimension at end diastole and LV end-diastolic volume decreased slightly, but without statistical significance by tri-plane volumetry. LV diastolic functional parameters were maintained during follow-up period. Conclusion: Enalapril or carvedilol could improve LV systolic function in middle childhood and adolescent patients with muscular dystrophy without significant adverse effects. Background and Objectives: In Duchenne and Becker muscular dystrophies, cardiac function deteriorates with time resulting in heart failure which is often fatal. We prospectively evaluated the effect of enalapril and carvedilol on left ventricular (LV) dysfunction in middle childhood and adolescent patients with muscular dystrophy. Subjects and Methods: Twenty-three patients with LV dysfunction (22 with Duchenne muscular dystrophy, 1 with Becker muscular dystrophy)were enrolled. We prescribed enalapril (13 patients) or carvedilol (10 patients) randomly from July 2008 to August 2010 and followed up the patients until September 2011. The changes in LV function parameters before and after the treatment were evaluated by echocardiography. Results: The mean age at the start of treatment with enalapril or carvedilol was 12.6±3.7 years (median 13 years), and mean follow-up duration was 20.1±8.9 months. In the enalapril group, LV fractional shortening (FS) increased from 25.8±2.1 to 26.6±3.0 (p=0.241). In the carvedilol group, LV FS increased from 26.4±1.1 to 28.6±4.2 (p=0.110). In all 23 patients, LV FS significantly increased from 26.1±1.7(before) to 27.6±3.7 (after treatment) (p<0.046). Indexed LV dimension at end diastole and LV end-diastolic volume decreased slightly, but without statistical significance by tri-plane volumetry. LV diastolic functional parameters were maintained during follow-up period. Conclusion: Enalapril or carvedilol could improve LV systolic function in middle childhood and adolescent patients with muscular dystrophy without significant adverse effects.

A case of adolescent Kawasaki disease with Epstein-Barr virus-associated infectious mononucleosis complicated by splenic infarction

최병삼,권보상,김기범,노정일,최정연,윤용수,배은정,전윤경,천정은 대한소아청소년과학회 2009 Clinical and Experimental Pediatrics (CEP) Vol.52 No.9

Kawasaki disease (KD) is an acute systemic vasculitis of unknown etiology that affects children. There are few reports that describe the Epstein-Barr virus (EBV) as the possible infectious agent of KD. Here, we describe a case of KD in a 15- year-old boy complicated with giant coronary artery aneurysms, pericardial effusion, and splenic infarction. The clinical course of KD was refractory to intravenous gamma globulin and aspirin. Our patient also showed typical findings of concomitant EBV-associated infectious mononucleosis, such as hepatosplenomegaly and generalized lymphadenopathy, with EBV-positive atypical lymphoid hyperplasia. He improved dramatically after receiving intravenous methylprednisolone followed by oral prednisolone. Ultimately, the coronary artery aneurysms remained as the only sequelae. We report a rare case of adolescent KD with EBV-associated infectious mononucleosis and splenic infarction.

A Novel Mutation of the TAZ Gene in Barth Syndrome: Acute Exacerbation after Contrast-Dye Injection

김기범,권보상,배은정,노정일,성문우,박성섭 대한의학회 2013 Journal of Korean medical science Vol.28 No.5

A 14-month-old boy was transferred because of dilated and hypertrophied left ventricle,neutropenia, and developmental delay. After checking computed tomographic angiography with contrast-dye, the patient showed acute exacerbation and finally died from multi-organ failure despite intensive cares. From genetic analysis, we revealed that the patient had Barth syndrome and found a novel hemizygous frame shift mutation in his TAZ gene, c.227delC (p.Pro76LeufsX7), which was inherited from his mother. Herein, we report a patient with Barth syndrome who had a novel mutation in TAZ gene and experienced unexpected acute exacerbation after contrast dye injection for computed tomographic angiography.

Usefulness of the Cardiopulmonary Exercise Test in Congenital Heart Disease

김기범,권보상,최은영,배은정,노정일,윤용수,김웅한,이정렬,김용진 대한심장학회 2007 Korean Circulation Journal Vol.37 No.10

Background and Objectives: This study aimed to evaluate the usefulnes of cardiopulmonary exercise test (CPET) in children with various congenital heart diseases (CHDs). Subjects and Methods: Forty-eight children and adolescents (18 girls and 30 boys; mean± SD age, 12.6± 0.5 years) with CHD who had undergone correc-the surgery performed: Fontan operation (12 patients), total correction for tetralogy of Fallot (13 patients), repair for coarctation of aorta (1 patients), and corrective surgery for simple CHDs (12 patients). Patients with simple CHDs who had undergone an early surgery were selected as controls. Results: Progressive exercise time was the longest in the simple CHD group than in the other groups (10.6± 2 versus 8.2-8.7 min, p= 0.12 ). Absolute and predicted values of mean peak oxygen consumption were the lowest in the Fontan operation group (p= 0.220 ). The coarctation of aorta group exhibited a prominent blod presure response, that is, an elevation in the systolic blood pressure relative to that in the other groups at rest (131.7± 18.8 versus 114.4-121.3 mmHg) and at peak exercise (196.5± 41.5 versus 146.8-184.3 mmHg). Conclusion: CPET can be a useful tool to clarify the exercise capacity and reflect the hemodynamic status of patients who have undergone surgery for various CHDs and other heart diseases.

Long QT Syndrome: a Korean Single Center Study

이윤식,권보상,김기범,오세일,배은정,박성섭,노정일 대한의학회 2013 Journal of Korean medical science Vol.28 No.10

The long QT syndrome (LQTS) is a rare hereditary disorder in which affected individuals have a possibility of ventricular tachyarrhythmia and sudden cardiac death. We investigated 62 LQTS (QTc≥0.47 sec) and 19 family members whose genetic study revealed mutation of LQT gene. In the proband group, the modes of presentation were ECG abnormality (38.7%), aborted cardiac arrest (24.2%), and syncope or seizure (19.4%). Median age of initial symptom development was 10.5 yr. Genetic studies were performed in 61; and mutations were found in 40 cases (KCNQ1 in 19, KCNH2 in 10, SCN5A in 7, KCNJ2 in 3, and CACNA1C in 1). In the family group, the penetrance of LQT gene mutation was 57.9 %. QTc was longer as patients had the history of syncope (P=0.001), ventricular tachycardia (P=0.017) and aborted arrest (P=0.010). QTc longer than 0.508 sec could be a cut-off value for major cardiac events (sensitivity 0.806, specificity 0.600). Beta-blocker was frequently applied for treatment and had significant effects on reducing QTc (P=0.007). Implantable cardioverter defibrillators were applied in 6 patients. Congenital LQTS is a potentially lethal disease. It shows various genetic mutations with low penetrance in Korean patients.

Clinical Characteristics and Independent Factors Related to Long-Term Outcomes in Patients with Left Isomerism

이선향,권보상,김기범,배은정,노정일,임홍국,김웅한,이정렬,김용진 대한심장학회 2017 Korean Circulation Journal Vol.47 No.4

Background and Objectives: We studied the results of patient management for left isomerism (LI) and sought to determine factors that may influence survival and prognosis. Subjects and Methods: We reviewed the medical records of 76 patients who were compatible with LI criteria between 1982 and 2014. Results: Of the total study population, 29 patients (38.1%) had functional univentricular heart disease, 43 patients (56.5%) had cardiac anomalies suitable for biventricular hearts, and four patients (5.2%) had normal heart structure. Extracardiac anomalies were noted in 38.1% of the study population, including biliary atresia in 7.8% of all patients. Of the 25 patients who underwent Kawashima procedures, 24.0% developed pulmonary arteriovenous fistulas (PAVFs). During the median follow-up period of 11.4 years (range: 1 day to 32 years), 14 patients died. The 10-year, 20-year, and 30-year survival rates were 87%, 84%, and 76%, respectively. Preoperative dysrhythmia and uncorrected atrioventricular valve regurgitation were significantly associated with late death. There was no significant difference in the number of surgical procedures and in survival expectancy between patients in the functional single-ventricle group and in the biventricular group. However, late mortality was higher in functional single-ventricle patients after 18 years of age. Conclusion: Patients with LI need to be carefully followed, not only for late cardiovascular problems such as dysrhythmia, valve regurgitation, and the development of PAVFs, but also for noncardiac systemic manifestations.

Long-Term Outcomes After an Arterial Switch Operation for Simple Complete Transposition of the Great Arteries

최병삼,권보상,김기범,배은정,노정일,최정윤,윤용수,김웅한,이정렬,김용진 대한심장학회 2010 Korean Circulation Journal Vol.40 No.1

Background and Objectives: Although coronary artery obstruction, aortic insufficiency (AI), and pulmonary stenosis (PS) have been reported after arterial switch operation (ASO), limited long-term studies on ASO exist. Our study aimed to examine long-term outcomes after ASO for simple complete transposition of the great arteries (TGA). Subjects and Methods: All 108 patients with simple complete TGA who underwent ASO at Seoul National University Children’s Hospital between 1987 and 2004 were enrolled. We retrospectively reviewed the patients’ medical records and the results of various functional and imaging studies. Results: Among 108 cases of ASO for simple TGA, 96 have been followed-up through the present time (mean follow-up duration was 11.7±8.6 years: range= 4to 23 years). The 20-year rates of freedom from significant AI, PS, and coronary obstruction were 78.6%, 67.8%, and 95.8%, respectively. AI showed a tendency to progress as follow-up time increased in 21.4% of the population studied (p=0.014); however, AS, PS, and PI showed no such progression. Late coronary artery occlusion was not associated with the initial coronary arterial pattern. Re-operations were done for 13 patients (13.5%) at an average of 8±4.3 years after ASO. The survival rate was 96%, while the re-operation-free was 90% at 10 years and 83% at 20 years. Most patients showed normal physical growth with good activity {98%; New York Heart Association (NYHA) class 1 activity} and normal development (96%). Conclusion: Although most patients showed normal physical growth and development after successful ASO, meticulous long-term follow-up is necessary because of progressive AI and coronary complications.

Prophylactic Pulmonary Artery Reduction in a Young Female with Severe Pulmonary Hypertension from Complete Atrioventricular Septal Defect

이선향,권보상,배은정,김기범,노정일,김웅한 대한심장학회 2017 Korean Circulation Journal Vol.47 No.1

Management of severely dilated pulmonary artery (PA) associated with severe pulmonary hypertension from congenital heart disease remains controversial, primarily due to its rare nature and concern for perioperative unpredictable complications. Herein, we report a 25 year-old female with a severely dilated PA (up to 73 mm), who was successfully treated by a PA graft replacement by creating a Y-shaped conduit using a 28 mm hemashield tube in the main PA and a 20 mm hemashield tube in both proximal parts of the branch PA.