• Title/Summary/Keyword: Congenital Heart Diseases

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The role of de novo variants in complex and rare diseases pathogenesis

  • Rahman, Mahir;Lee, Woohyung;Choi, Murim
    • Journal of Genetic Medicine
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    • v.12 no.1
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    • pp.1-5
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    • 2015
  • De novo variants (DNVs) can arise during parental germ cell formation, fertilization, and the processes of embryogenesis. It is estimated that each individual carries 60-100 such spontaneous variants in the genome, most of them benign. However, a number of recent studies suggested that DNVs contribute to the pathogenesis of a variety of human diseases. Applications of DNVs include aiding in clinical diagnosis and identifying disease-causing genetic factors in patients with atypical symptoms. Therefore, understanding the roles of DNVs in a trio, with healthy parents and an affected offspring, would be crucial in elucidating the genetic mechanism of disease pathogenesis in a personalized manner.

Neonatal Patent Ductus Arteriosus Ligation Operations Performed by Adult Cardiac Surgeons

  • Chung, Yoon Sang;Cho, Dai Yun;Kang, Hyun;Lee, Na Mi;Hong, Joonhwa
    • Journal of Chest Surgery
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    • v.50 no.4
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    • pp.242-246
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    • 2017
  • Background: Patent ductus arteriosus (PDA) ligation is usually performed by congenital cardiac surgeons. However, due to the uneven distribution of congenital cardiac surgeons in South Korea, many institutions depend solely on adult cardiac surgeons for congenital cardiac diseases. We report the outcomes of PDA ligations performed by adult cardiac surgeons at our institution. Methods: The electronic medical records of 852 neonates at Chung-Ang University Hospital, Seoul, South Korea from November 2010 to May 2014 were reviewed to identify patients with PDA. Results: Of the 111 neonates with a diagnosis of PDA, 26 (23%) underwent PDA ligation. PDAs were ligated within 28 days of birth (mean, $14.5{\pm}7.8days$), and the mean gestational age of these patients was $30.3{\pm}4.6weeks$ (range, 26 to 40 weeks) with a mean birth weight of $1,292.5{\pm}703.5g$ (range, 480 to 3,020 g). No residual shunts through the PDA were found on postoperative echocardiography. There was 1 case of 30-day mortality (3.8%) due to pneumonia, and 6 cases of in-hospital mortality (23.1%) after 30 days, which is comparable to results from other centers with congenital cardiac surgery programs. Conclusion: Although our outcomes may not be generalizable to all hospital settings without a congenital cardiac surgery program, in select centers, PDA ligations can be performed safely by adult cardiac surgeons if no congenital cardiac surgery program is available.

A Clinical Study on the Changes of Serum Enzymes after Open heart Surgery under Cardiopulmonary Bypass (인공심폐기를 이용한 개심술후 혈청효소 변화에 관한 연구)

  • 고재웅
    • Journal of Chest Surgery
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    • v.22 no.4
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    • pp.562-572
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    • 1989
  • The changes of serum glutamic oxaloacetic transaminase [SGOT], serum glutamic pyruvic transaminase [SGPT], serum lactic dehydrogenase [LDH] and serum creatine phosphokinase [CPK] were examined during and after the open heart surgery. In the total of 52 patients with heart diseases including 40 cases of congenital heart anomalies and 12 cases of acquired valvular heart diseases who undergone open heart surgery under cardiopulmonary bypass. The results obtained are as follows: 1. The average value of SGOT before surgery was 30.27 [ 18:86 units. The enzyme was reached to the maximum of 139.88 [ 89.43 units on the 1st day after the operation [p< 0.05], the enzyme activity was gradually decreased from the 3rd day after the operation, returned to the normal range on the 7th day after the operation. 2. The average value of SGPT before surgery was 14.36 [ 7.45 units. The enzyme was reached to the maximum of 34.67 [ 27.64 units on the 2nd day after the operation, but it was valueless statistically, the enzyme activity was gradually decreased from the 3rd day after the operation, returned to the normal range on the 5th day after the operation. 3. The average value of LDH before surgery was 263.07 * 86.66 units. The enzyme was reached to the maximum of 662.29 * 303.60 units on the 2nd day after the operation [p < 0.05], the enzyme activity was gradually decreased from the 5th day after the operation, returned to the normal range on the 7th day after the operation. 4. The average value of CPK before surgery was 141.35 * 43.44 units. The enzyme was reached to the maximum of 377.42 [ 222.02 units on the 1st day after the operation [p < 0.05], the enzyme activity was gradually decreased from the 5th day after the operation, returned to the normal range on the 7th day after the operation. 5. In the relationships of the serum enzymes and duration of the extracorporeal circulation, the values on the group over 90 minute of the extracorporeal circulation were increased than on the group below 90 minute of the extracorporeal circulation, but it was valueless statistically.

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Open Heart Surgery of Congenital Heart Diseases -Report of Four Cases- (선천성심질환(先天性心疾患)의 심폐기(心肺器) 개심수술(開心手術) - 4례(例) 보고(報告) -)

  • Kim, Kun Ho;Park, Young Kwan;Jee, Heng Ok;Kim, Young Tae;Rhee, Chong Bae;Chung, Yun Chae;Oh, Chull Soo
    • Journal of Chest Surgery
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    • v.9 no.1
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    • pp.1-9
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    • 1976
  • The present. study reports four cases of congenital heart diseases, who received open heart surgery by the Sarn's Heart-Lung-Machine in the department of Thoracic Surgery, Hanyang University Hospital during the period between July 1975 and May 1976. The Heart-Lung-Machine consisted of the Sarn's five head roller pump motor system (model 5000), heat exchanger, bubble trap, the Rygg-Kyvsgaard oxygenator, and monitors. The priming of pump oxygenator was carried out by the hemodilution method using Hartman's solution and whole blood. Of the four cases of the heart diseases, three whose body weight were below 30kg, received the partial hemodilution priming and the remaining one whose body weight was 52kg received the total hemodilution priming with Hartman's solution alone. The rate of hemodilution was in the average of 60.5ml/kg. Extracorporeal circulation was performed at the perfusion flow rate of the average 94.0ml/kg/min, and at the moderate hypothermia between 35'5"C and 30'5"C of the rectal temperature. In the total cardiopulmonary bypass, arterial blood pressure was anged between 30 mmHg and 85 mmHg, generally maintaining over 60 mmHg and venous pressure was measured between 4 and $23cmH_2O$, generally maintaining below $10cmH_2O$. The first case: The patient, a nine year old girl having the symptoms and physical signs typical to cardiac anomaly was definitely diagnosed as isolated pulmonary stenosis through the cardiac catheterization. There was, however, no cyanosis, no pathological finding by X-ray and E.C.G. tracings. The valvulotomy was performed through the arteriotomy of pulmouary artery under the total cardiopulmonary bypass. Postoperative course of the patient was uneventful, and murmur and the clinical symptoms disappeared. The second case: A 12 year old boy with congenital heart anomaly was positively identified as having ventricular septal defect through the cardiac catheterization. As in the case with the first case, the patient exhibited the symptoms and physical signs typical to cardiac anomaly, but no pathological abnormality by X-ray and E.C.G. tracings. The septal defect was localized on atrioventricular canal and was 2 by 10 mm in size. The septal defect was closed by direct simple sutures under the cardiopulmonary bypass. Postoperative hemodynamic study revealed that the pressure of the right ventricle and pulmonary artery were decreased satisfactory. Postoperative course of the patient was uneventful, and murmur and the clinical symptoms disappeared. The third case: The patient, a 19 year old girl had been experienced the clinical symptoms typical to cardiac anomaly for 16 years. The pink tetralogy of Fallot was definitey diagnosed through the cardiac catheterization. The patient was placed on an ablolute bed rest prior to the operation because of severe exertional dyspnea, fatigability, and frequent syncopal attacks. However, she exhibited very slight cyanosis. Positive findings were noted on E.C.G. tracings and blood picture, but no evidence of pathological abnormality on X-ray was observed. All of the four surgical approaches such as Teflon patch closure (3 by 4cm in size) of ventricular septal defect, myocardial resection of right ventricular outflow tract, valvulotomy of pulmonary valvular stenosis, and pericardial patch closing of ventriculotomy wound were performed in 95 minutes under the cardiopulmonary bypass. Postoperative hemodynamic study revealed that the pressure of the right ventricle was decreased and pulmonary artery was increased satisfactorily. Postoperative course of the patient was uneventful, and murmur and the clinical symptoms disappeared. The fourth case: The patient, a 7 1/4 year old girl had the symptoms of cardiac anomaly for only three years prior to the operation. She was positively identified as having acyanotic tetralogy of Fallot by open heart surgery. The patient showed positive findings by X-ray and E.C.G. tracings, but exhibited no cyanosis and normal blood picture. All of the three surgical approaches, such a myocardial resection of hypertrophic sight ventricular outflow tract, direct suture closing of ventricular septal defect and pericardial patch closing of ventriculotomy wound were carried out in 110 minutes under the cardiopulmonary bypass. Postoperative hemodynamic study revealed that the pressure of the right ventricle was decreased and pulmonary artery was increased satisfactorily. Postoperative course of the patient was uneventful, and the symptoms disappeared.

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Evaluation of short-term cardiac function by tissue Doppler imaging in pre and postoperative period of congenital heart disease (조직 도플러 영상을 이용한 선천성 심장병 수술 전후의 단기 심기능 평가)

  • Lee, Jun-Hwa;Kim, Yeo-Hyang;Hyun, Myung-Chul;Lee, Sang-Bum
    • Clinical and Experimental Pediatrics
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    • v.50 no.5
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    • pp.476-483
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    • 2007
  • Purpose : The objective of this study was to assess ventricular function by tissue Doppler imaging (TDI) in children with congenital heart disease (CHD) who have been undergoing open heart surgery (OHS) using cardiopulmonary bypass. We tried to compare the parameters of tissue Doppler imaging before and after OHS in patients with congenital heart disease. Methods : This study was conducted on 32 patients with CHD after OHS from January 2005 to December 2005 at Kyungpook National University hospital. Patients who underwent 2-D echocardiography before and after their OHS. All patients were divided into three groups, left ventricular volume overloading group (group 1), and right ventricular volume overloading group (group 2), and right ventricular pressure overloading group (group 3). The TDIs were examined before and 1 to 3 months after OHS. Peak early diastolic (E), and peak late diastolic (A) velocity of transmitral flow were measured by pulsed wave Doppler examination. Peak systolic (Sm), peak early diastolic (Em), and peak late diastolic (Am) velocity in apical 4-chamber and 2-chamber views were measured by TDI. The author calculated E/Em ratio. Results : The patients were 14 boys and 18 girls and the average age of patients was 2 years and 3 months. The congenital heart diseases which have to get OHS were ventricular septal defect (13 cases), atrial septal defect (7), atrioventricular septal defect (3), isolated pulmonary stenosis (2) and tetralogy of Fallot (7). There were significant decrease of Sm, Em, Am measured on tricuspid annulus and E/Em measured on mitral annulus in apical 4 chamber view (P<0.05). Conclusion : This study showed significant decrease of Sm, Em, Am measured on tricuspid annulus and E/Em measured on mitral annulus in apical 4 chamber view after OHS. These changes might be due to the effects of cardiopulmonary bypass in OHS and/or hemodynamic changes after correction of congenital heart disease. To clarify these changes, further study on more patients is needed.

Variation in clinical usefulness of biomarkers of acute kidney injury in young children undergoing cardiac surgery

  • Baek, Hee Sun;Lee, Youngok;Jang, Hea Min;Cho, Joonyong;Hyun, Myung Chul;Kim, Yeo Hyang;Hwang, Su-Kyeong;Cho, Min Hyun
    • Clinical and Experimental Pediatrics
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    • v.63 no.4
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    • pp.151-156
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    • 2020
  • Background: Acute kidney injury (AKI) is one of the most significant postoperative complications of pediatric cardiac surgery. Because serum creatinine has limitations as a diagnostic marker of AKI, new biomarkers including neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1), and interleukin-18 (IL-18) are being evaluated to overcome these limitations and detect AKI at an early stage after cardiac surgery. Purpose: This study aimed to investigate the clinical usefulness of these biomarkers in young children. Methods: Thirty patients with congenital heart diseases who underwent cardiac surgery using cardiopulmonary bypass (CPB) were selected, and their urine and blood samples were collected at baseline and 6, 24, and 48 hours after surgery. Serum creatinine and blood urea nitrogen levels as well as NGAL, KIM-1, and IL-18 levels in urine samples were measured, and clinical parameters were evaluated. Results: Of the 30 patients, 12 developed AKI within 48 hours after cardiac surgery. In the AKI group, 8 of 12 (66.6%) met AKI criteria after 24 hours, and urine KIM-1/creatinine (Cr) level (with adjustment of urine creatinine) peaked at 24 hours with significant difference from baseline level. Additionally, urine KIM-1/Cr level in the AKI group was significantly higher than in the non-AKI group at 6 hours. However, urine NGAL/Cr and IL-18/Cr levels showed no specific trend with time for 48 hours after cardiac surgery. Conclusion: It is suggested that urine KIM-1/Cr concentration could be considered a good biomarker for early AKI prediction after open cardiac surgery using CPB in young children with congenital heart diseases.

A Clinical Study on SGOT,SGPT and LDH in the Patients of Open Heart Operation with Cardiopulmonary Bypass (개심술환자의 혈청효소치 변동에 관한 연구)

  • Park, Kang-Sik;Jee, Heng-Ok;Kim, Kun-Ho
    • Journal of Chest Surgery
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    • v.15 no.1
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    • pp.46-52
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    • 1982
  • Activities of serum glutamic pyruvic transaminase [SGPT], serum glutamic oxaloacetic transaminase [SGOT] and serum lactic dehydrogenase [LDH] were determined during and after surgery In a total of 18 patients with heart diseases Including 8 cases of congenital heart anomaly and 10 cases of acquired valvular diseases who undergone open heart surgery under cardiopulmonary bypass. The results obtained are as follows: 1]The average value of the activity of SGPT before the surgery was $27.94{\pm}12.24$ units. The value was increased following the operation and reached to the maximum value of $43.83{\pm}37.02$ units 2 days after the operation, which was slightly deviated from the normal range. The enzyme activity returned to the normal range of $32.82{\pm}23.61$ units 4 days after the operation. 2]The average value of the activity of SGOT before the surgery was observed to be $30.5{\pm}11.29$ units. The value increased during the operation and reached to the maximum value of $95.56{\pm}43.38$ units. 2 days after the operation, the enzyme activity was gradually decreased thereafter and returned to the normal range 6 days after the operation. 3]The average value of the activity of serum LDH before the surgery was found to be $258.0{\pm}88.96$ units. The value was increased during the operation and reached to the maximum value of $930.55{\pm} 258.23$ units 2 days after the operation. The enzyme activity was gradually decreased thereafter and returned to normal range 7 days after the operation. 4]It was observed that the longer the time required for the extracorporeal circulation in the open heart surgery became, the greater the changed in activity of SGOT, SGPT and serum LDH were found.

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A Case of Kartagener's Syndrome Presenting as Respiratory and Right Heart Failures (호흡부전과 우심부전을 동반한 Kartagener 증후군 1예)

  • Yang, Suck-Chul;Lee, Kyung-Sang;Yoon, Ho-Joo;Shin, Dong-Ho;Park, Sung-Soo;Lee, Jung-Hee;Park, Choong-Ki
    • Tuberculosis and Respiratory Diseases
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    • v.43 no.2
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    • pp.251-256
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    • 1996
  • Kartagener's syndrome, a congenital disease transmitted as an autosomal recessive illness with a prevalence of approximately 1:20,000 persons, is characterized by the triple association of situs inversus, bronchiectasis, and sinusitis. Affected persons have an incoordination of ciliary motility that leads to defective mucociliary transport, chronic bronchial infections. Kartagener's syndrome is a subset of the immotile cilia syndrome and therefore all patients with Kartagener's syndrome have immotile cilia with obvious ultrastructural defects in the ciliary axoneme. In the respiratory tract this inability presumably causes impaired clearance of mucus and inhaled particles and results in the chronic infections of the sinuses and bronchial trees that are characterized of the disease. The end-stage phenomenon in Kartagener's syndrome, respiratory or heart failure is a less common event and heart-lung transplantation is becoming an accepted therapy for patients with end-stage pulmonary disease in Kartagener's syndrome in many institutes. We report one case of Kartagener's syndrome in a 25-year-old young woman who was presented as respiratory and right heart failures, with review of literatures.

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Comparative Analysis of arterial Gases and Acid-base status in Patients with Congenital and Acquired Heart Disease at Preoperative Period, During Extracorporeal Circulation. and Postoperative Period (선천성 및 후천성 심질환 환자에서 체외순환 전, 중, 후의 동맥혈 가스의 비교 분석)

  • 이동석;이봉근;김송명
    • Journal of Chest Surgery
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    • v.34 no.11
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    • pp.831-842
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    • 2001
  • Background: Patients with cardiac diseases who have structural defects in their heart bring about metabolic insult such as preoperative acid-base imbalance. Cardiac operation requires many nonphysiologic procedures such as extracorporeal circulation, hypothermia, and hemodilution. We studied the acid-base status of surgical heart diseases pre-operatively, during extracorporeal circulation, and post-operatively and researched the treatment indications of acid-base disturbances. Material and Method: From January 1997 to May 1999, fifty two cases of open heart surgery were carried out under extracorporeal circulation, which divided into a set of pediatric and adult groups, congenital and acquired groups, non-cyanotic and cyanotic groups, The $\alpha$ -stat arterial blood gas analysis was done in each group during the preoperative period, during the operation with extracorporeal circulation, and during the postoperative period. Result: Before surgery, all patients present metabolic acidosis, PaO2 was low in adult group and acquired group and compensatory respiratory alkalosis was noted in cyanotic group. During extracorporeal circulation, adult group revealed alkalosis and normal in acquired group. Pediatric group presents low Pa$CO_2$, metabolic acidosis and respiratory alkalosis. Congenital group and non-cyanotic group showed non-compensatory alkalosis trend and non-compensatory respiratory acidosis were observed in cyanotic group during extracorporeal circulation. Postoperative acid-base status of adult group was recovered to normal and the standard bicarbonate was increased in the acquired group. All of the pediatric, congenital non-cyanotic, and cyanotic groups revealed the lack of buffer base.

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Coexistent Atrial Septal Defect with Mitral Valve Disease: a report of 6 cases (승모판막질환을 합병한 심방중격결손증의 수술요법6례 보고)

  • Jo, Sung-Rae;Chae, Hurn;Rho, Joon-Rhyang
    • Journal of Chest Surgery
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    • v.12 no.4
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    • pp.339-345
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    • 1979
  • Mitral valve disease is the most common disease of the acquired heart diseases, and atrial septal defect is also one of common congenital heart diseases. Coexistence of these two lesions is rare, but of great hemodynamic interest. Among 443 cases with mitral valve disease and 90 cases with atrial septal defect experienced in the Department of Thoracic Surgery, Seoul National University Hospital, there were 6 cases with atrial septal defect complicated by mitral valve disease. 1. Of the 6 patients, four were female and two were male. The age was ranged from 18 to 46. 2. Atrial septal defect was ostium secundum type in all cases, and the mitral valvular lesions were regurgitation in four and stenosis in two. Type II ventricular septal defect was also combined in one of the cases. 3. The atrial septal defect was corrected by, primary closure and the mitral valve was replaced with the prosthetic or bioprosthetic valve in all cases. The combined ventricular septal defect was closed using Teflon felt patch. 4. The operative result was good except in one who was expired of bacterial endocarditis 4 months after hospital discharge.

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