• Clinical and Experimental Pediatrics
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• v.58 no.7
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• pp.256-262
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• 2015

Purpose: Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. Methods: A retrospective analysis was conducted for a total of 13 patients with Kabuki syndrome. Results: The median age at diagnosis of was 5.9 years (range, 9 days to 11 years and 8 months). All patients showed the characteristic facial dysmorphisms and congenital anomalies in multiple organs, and the diagnosis was delayed by 5.9 years (range, 9 days to 11 years and 5 months) after the first visit. Noncardiac anomalies were found in 84% of patients, and congenital heart diseases were found in 9 patients (69%). All 9 patients exhibited left-side heart anomalies, including hypoplastic left heart syndrome in 3, coarctation of the aorta in 4, aortic valve stenosis in 1, and mitral valve stenosis in 1. None had right-side heart disease or isolated septal defects. Genetic testing in 10 patients revealed 9 novel MLL2 mutations. All 11 patients who were available for follow-up exhibited developmental delays during the median 4 years (range, 9 days to 11 years 11 months) of follow-up. The leading cause of death was hypoplastic left heart syndrome. Conclusion: Pediatric cardiologist should recognize Kabuki syndrome and the high prevalence of left heart anomalies with Kabuki syndrome. Genetic testing can be helpful for early diagnosis and counseling.

• Journal of the Korea Institute of Information and Communication Engineering
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• v.17 no.12
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• pp.3001-3008
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• 2013

To diagnose the cardiac valve abnormalities using analysis of phonocardiogram, first of all, accurate detection of S1, S2 components is needed for heart sound segmentation. In this paper, a new method that uses the third moment characteristics of an envelope of the PCG is proposed for accurate detection of S1 and S2 components of the heart sound with cardiac murmurs. The envelope of the PCG is obtained from the short-time energy profile, and its third moment profile with slope information is used for accurate time gating of the S1, S2 components. Experimental results have shown that the proposed method is superior to the conventional second moment method for detection of S1 and S2 regions from the heart sound signals with cardiac murmurs.

• Journal of Veterinary Clinics
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• v.19 no.1
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• pp.110-113
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• 2002

An atrial septal defect (ASD) is a congenital hole in the atrial septum that allows flow between the two atria. Small ASDs are usually well-tolerated defects and do not result in significant clinical abnormalities. In large ASDs or in the presence of other cardiac defects, clinically significancy is increased. Atrial septal defects in 2 Dogs with cardiac and respiratory signs were diagnosed at seoul animal medical center. In ascultation, systolic murmur and the splitting of second heart sound were heard at pulmonary or tricuspid valve region. In radiograph, right-sided cardiomegaly, pulmonary artery dilation, increased pulmonary vasculature makings, and pleural effusion or pulmonary edema signs were observed. In echocardiography, the region, location and size of septal defect was identified. Also, the direction and degree of shunt was measured. These dogs were treated with medicine for cardiac failure. One dog is well-tolerated, the other dog died.

• Journal of Chest Surgery
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• v.9 no.2
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• pp.239-244
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• 1976

Alterations in the serum magnesium level were studied in twenty patients who had open-heart surgery during the period from August 1974 to May 1975. The patients were chosen at random. The operative procedures included repair for congenital heart diseases in fifteen patients and cardiac valve replacement for acquired valvular heart diseases in five patients. The age ranged from 8 to 46 years, with an average of 19 years. None of the patients had a history of gross neuromuscular abnormalities. Cardiopulmonary bypass was carried out using a roller pump and a disposable oxygenator. The prime solution consisted of 2 units of ACD banked blood and approximately an equal volume of non-blood additives in adults, while a relatively smaller volume was added in children. The average flow rate was 2,733 ml per minute. Blood samples for magnesium and arterial blood pH were obtained the day after admission 25 minutes after initiation of the bypass and on the morning the day after operation. Preoperative data were then compared with those obtained during the bypass and postoperatively by a paired test. During the bypass, the serum magnesium level decreased significantly from $1.425{\pm}0.029$ to $1.210{\pm}0.063mEq.$ liter (p<0.001). Also, there was a significant decrease in serum magnesium from $1.425{\pm}0.029$ preoperatively to $1.255{\pm}0.083mEq$. per liter (p<0.001). Also, there was a significant decrease in serum magnesium from $1.425{\pm}0.029$ preoperatively to $1.255{\pm}0.083mEq$. per liter postoperatively (p<0.01). The duration of bypass was less than 90 minutes in 10 patients (group A) and exceeded 90 minutes in the remaining 10 (group B). There was no statistical correlation between the groups A and B ($p{\gg}0.20$). Statistical analyses of the serum magnesium level and arterial blood pH showed no significant correlation with correlation coefficient; being -0.3485(pre-op), -0.2971(during bypass), and -0.1008(post-op), respectively. In all the patients, no gross neuromuscular abnormalities were found postoperatively. At present, the clinical significance of the serum magnesium level during and after bypass is controversial. In the near future, however, it is expected that improvements in prime solution and heart-lung machine will solve this problem.

• Journal of Chest Surgery
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• v.42 no.3
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• pp.292-298
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• 2009

Background: Surgery for mitral valve disease in children carries both technical and clinical difficulties that are due to both the wide spectrum of morphologic abnormalities and the high incidence of associated cardiac anomalies. The purpose of this study is to assess the outcome of mitral valve surgery for treating congenital mitral regurgitation in children. Material and Method: From 1997 to 2007, 22 children (mean age: 5.4 years) who had congenital mitral regurgitation underwent mitral valve repair. The median age of the patients was 5.4 years old and four patients (18%) were under 12 months of age. 15 patients (68%) had cardiac anomalies. There were 13 cases of ventricular septal defect, 1 case of atrial septal defect and 1 case of supravalvar aortic stenosis. The grade of the preoperative mitral valve regurgitation was II in 4 patients, III in 15 patients and IV in 3. The regurgitation was due to leaflet prolapse in 12 patients, annular dilatation in 4 patients and restrictive leaflet motion in 5 patients. The preoperative MV Z-value and the regurgitation grade were compared with those obtained at follow-up. Result: MV repair was possible in all the patients. 19 patients required reduction annuloplasty and 18 patients required valvuloplasty that included shortening of the chordae, papillary muscle splitting, artificial chordae insertion and cleft closure. There were no early or late deaths. The mitral valve regurgitation after surgery was improved in all patients (absent=10, grade I=5, II=5, III=2). MV repair resulted in reduction of the mitral valve Z-value ($2.2{\pm}2.1$ vs. $0.7{\pm}2.3$, respectively, p<0.01). During the mid-term follow-up period of 3.68 years, reoperation was done in three patients (one with repair and two with replacement) and three patients showed mild progression of their mitral reguration. Conclusion: our experience indicates that mitral valve repair in children with congenital mitral valve regurgitation is an effective and reliable surgical method with a low reoperation rate. A good postoperative outcome can be obtained by preoperatively recognizing the intrinsic mitral valve pathophysiology detected on echocardiography and with the well-designed, aggressive application of the various reconstruction techniques.

• Journal of Chest Surgery
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• v.29 no.8
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• pp.867-874
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• 1996

This study was designed to assess the left ventricular peak systolic pressure/end-systolic volume (PSP/ESV) ratio in predicting symptomatic improvement with valve replacement in patients with aortic regurgitation and enlarged left von'lrlcular volume. We studied 21 patients (15 men and 6 women aged 15 to 60 years) with moderate or severe aortic regur- gitation, no other cardiovascular abnormalities and left ventricular end-systolic volume over 60 m11m2. In this group we assessed the preoperative variables which routinely were measured at cardiac catheterlzation to predict symptomatic improvement with valve replacement. Six months after operation, symptoms were alleviated in 13 patients(62%), and unchanged in 8()8%). By multivariate analysis, the PSP/ESV rati was a strong predictor for functional class 6 months after surgery(p=0.005) and also for change- in functional class prior to an operation to 6 months postoperatively(p=0.0)2). By 6 months after receiving valve replacement, all patients with a ratio over 1. 71 mmHglml/m'were in functional class I or II , in contrast, of those with a ratio < 1.71 mmHg/ml/m2, 40% were in functional class III. The PSP/ESV ratio may help to predict which patients with aortic regurgitation and enlarged left ven- tricular end-systolic volume will have symptomatic improvement with valve replacement.

• Journal of Veterinary Clinics
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• v.32 no.4
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• pp.330-333
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• 2015

An 1 year old intact male mixed dog (weighing 20 kg) was presented with primary complaints of abdominal distension and severe exercise intolerance. Electrocardiogram found profound bradycardia (46-79 beats/min) with atrial standstill. Laboratory studies found no particular abnormalities. Serum cortisol and T4 concentration were within normal range. Diagnostic imaging studies revealed generalized cardiomegaly, ascites, dilation in all cardiac chambers, absence of atrial contraction, absence of transmitral A-peak, mitral and tricuspid valve insufficiency and normal left ventricular systolic dimension. Based on diagnostic findings, the case was diagnosed as idiopathic atrial standstill. The dog was treated with conventional therapy for heart failure.

• Clinical and Experimental Pediatrics
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• v.46 no.7
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• pp.661-667
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• 2003

Purpose : This study was performed to find the chief clinical problems associated with the ages of adult patients of tetralogy of Fallot(TOF) who had undergone total correction. Methods : Of the 30 patients who were registered at the Grown-Up Congenital Heart Disease (GUCH) Clinic of Samsung Medical Center for TOF, a retrospective investigation was carried out on 28 patients who underwent total correction. Results : Mean age at retrospective study was 30.8(range : 16-53) years old. Age at total correction was 15.8(range : 2-49) years old. Problems after corrective surgery were assessed. They were arrhythmia, pulmonary valve regurgitation, left pulmonary artery stenosis, residual ventricular septal defect, mitral valve regurgitation, tricuspid valve regurgitation, right ventricle outflow tract obstruction, aortic valve regurgitation, infective endocarditis and protein losing enteropathy. After repair of TOF, such arrhythmias as atrial arrhythmia and AV conduction disturbances were observed in some patients. Cardiomegaly was found significantly in the subjects with arrhythmia(P<0.05), and arrhythmia was less observed in patients who underwent surgery at a young age. Eight patients required a reoperation; the main indications were residual ventricular septal defect, right ventricle outflow tract obstruction and peripheral pulmonary artery stenosis. Conclusion : The majority of the patients seemed to live normal lives after Tetralogy of Fallot repair. However, as residual anatomic and functional abnormalities exist postoperatively, continued careful follow-up is needed to detect and correct structural and functional abnormalities.

• Clinical and Experimental Pediatrics
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• v.58 no.10
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• pp.392-397
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• 2015

Purpose: Alagille syndrome is a complex hereditary disorder that is associated with cardiac, hepatic, skeletal, ocular, and facial abnormalities. Mutations in the Notch signaling pathway, such as in JAG1 and NOTCH2, play a key role in embryonic development. A cardiac or hepatic presentation is a critical factor for determining the prognosis. Methods: We conducted a retrospective study of 41 patients with Alagille syndrome or a JAG1 mutation between 1983 and 2013. Results: The first presentations were jaundice, murmur, cyanosis, and small bowel obstruction at a median age of 1.0 months (range, 0-24 months). The JAG1 mutation was found in 27 of the 28 genetically-tested patients. Cardiovascular anomalies were identified in 36 patients, chronic cholestasis was identified in 34, and liver transplantation was performed in 9. There was no significant correlation between the severity of the liver and cardiac diseases. The most common cardiovascular anomaly was peripheral pulmonary stenosis (83.3%), with 13 patients having significant hemodynamic derangement and 12 undergoing surgical repair. A total bilirubin level of >15 mg/dL with a complex surgical procedure increased the surgical mortality (P=0.022). Eight patients died after a median period of 2.67 years (range, 0.33-15 years). The groups with fetal presentation and with combined severe liver and heart disease had the poorest survival (P<0.001). Conclusion: The group with combined severe liver and heart disease had the poorest survival, and a multidisciplinary approach is necessary to improve the outcome.

• Journal of Chest Surgery
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• v.42 no.2
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• pp.175-183
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• 2009

Background: Mitral valve abnormalities in the pediatric population are rare. Mitral valve replacement or pediatric mitral lesions can cause problems such as a lack of growth potential. There re only limited experiences with mitral valve repair at any institution, so the purpose of his study is to evaluate the outcomes of mitral valve repair n pediatric patients. Material and Method: Sixty-four consecutive children (28 males and 36 females) with a mean age of $5.5{\pm}4.7$ years underwent mitral valve repair for treating their congenital mitral valve disease between January 1996 and December 2005. The patients were divided into two groups: group 1 (34 patients (53.1%)) had isolated disease (mitral anomaly with or without trial septal defect or patent ductus arteriosus) and group 2 (30 patients (46.9%)) had complex disease (mitral anomaly with concurrent intracardiac disease, except atrioventricular septal defect). Result: The overall in-hospital mortality was 6.3%; group 1 had 5.9% mortality and group 2 had 10.0% mortality. The postoperative morbidity was 18.8%; group 1 and 2 had 14.7% and 23.3% postoperative morbidity, respectively, and there as no significant difference among the groups. The median follow-up was 4.6 years range: $0.5{\sim}12.2$ years). The 10-year survival rate was 95.3%. The 10-year freedom from re-operation rate was 76.1% with 10 re-operations. The majority of the functional classifications were annular dilatation and leaflet prolapse. A mean of $2.1{\pm}1.1$ procedures per patient were performed. The echocardiography that was done at the immediate postoperative period showed a significant improvement in the mitral valve function. The follow-up echocardiographic results were significantly improved. However, mitral stenosis newly developed over time, and there ere significant differences according to the repair strategies. Conclusion: The patients who underwent mitral valve repair for congenital mitral anomalies showed good results. The follow-up echocardiography revealed satisfactory short-term and long-term results. Close follow-up is necessary to detect the development of postoperative mitral stenosis or regurgitation.