• Journal of Interdisciplinary Genomics
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• v.5 no.1
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• pp.1-4
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• 2023

Kleefstra syndrome is caused by chromosome 9q34.3 deletion or heterozygous mutations in the Euchromatin Histone Methyl Transferase 1 (EHMT1) gene. The prevalence is estimated 1:25,000 to 1:35,000. Intellectual disability, distinctive facial features, hypotonia in childhood can be accompanied. The spectrum of Kleefstra syndrome includes behavioral/psychiatric problems, hearing and visual impairments, seizures, congenital heart defects, genitourinary defects, and obesity. Therefore, it is necessary to understand the pathophysiology and various manifestation of Kleefstra syndrome and discussing with a multidisciplinary team will help diagnose and treat Kleefstra syndrome patients.

• Journal of Chest Surgery
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• v.39 no.12 s.269
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• pp.931-933
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• 2006

Robotic assisted surgery in adult patient with congenital ventricular septal defect Since December in 2005, we have done minimally invasive surgeries in selected cases of mitral valve diseases, tricuspid valve diseases, atrial septal defects and atrial fibrillations with the $AESOP^{TM}$ robotic arm. We have had a better surgical view and skill, according to accumulation of the experience of this procedure. Recently, we performed robotic assisted surgery in a 47-year-old female with congenital perimembranous ventricular septal defect.

• Journal of Chest Surgery
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• v.50 no.5
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• pp.378-381
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• 2017

Patients with an atrial septal defect (ASD) and severe pulmonary arterial hypertension (PAH) are considered ineligible for defect closure surgery because of the risk of right ventricular decompensation and death after the operation. We report the case of a patient with large ASD and severe PAH who was able to undergo defect closure surgery successfully following long-term use of combined oral sildenafil and beraprost.

• Journal of Chest Surgery
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• v.46 no.2
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• pp.135-137
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• 2013

An atrial septal defect is the most common type of congenital heart disease among adults. Surgical repair or percutaneous closure of the defect is the treatment options. Even though percutaneous closure seems to be less risky than surgical repair, it may result in fatal complications like device embolism, cardiac perforation and tamponade. Herein we report a case of the embolism of a device into the pulmonary artery after one hour of percutaneous closure in which the embolized device was surgically removed and the defect was closed with a pericardial patch.

• Journal of Chest Surgery
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• v.51 no.1
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• pp.57-60
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• 2018

Left main bronchus compression occasionally occurs in patients with cardiac disease. A 19-month-old female patient weighing 6.7 kg was admitted for recurrent pneumonia and desaturation. S he had an atrial septal defect (AS D) with a right aortic arch. Her left main bronchus had been compressed between the enlarged right pulmonary artery (RPA) and the descending thoracic aorta for 14 months. We conducted ASD closure and RPA anterior translocation via sternotomy. The left main bronchus compression was relieved despite the medium-term duration of compression.

• Journal of Chest Surgery
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• v.19 no.1
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• pp.122-133
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• 1986

Thirteen patients with cyanotic cardiac malformations having more complex intracardiac defects, hemodynamics and operative procedures than ones in Tetralogy of Fallot undertaken total surgical corrections from July 1981 to August 1985. The cases of corrective surgery for complex cardiac malformations were 3.9% of all congenital cardiac malformations and 12.6% of cyanotic cardiac malformations. Six patients died within 30 days after surgery. So operative mortality was 46%; Transposition of the great arteries, two of 4 patients, due to low cardiac output syndrome and tracheal bleeding ; Univentricular heart, one of 3 patients, due to bleeding; Corrected transposition of the great arteries, one of 2 patients, due to acute heart failure; Tricuspid atresia, one of 2 patients, due to low cardiac output syndrome; Double outlet right ventricle, one of single patient, due to respiratory failure. The cases of surgical correction for complex cardiac malformations are progressively increasing in numbers. The more accurate evaluation of anatomical condition and hemodynamics in preoperative diagnosis, studies on applicable surgical procedure and perioperative care of patients are necessary in the improvement of clinical and surgical results.

• Journal of the Korean Society of Radiology
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• v.82 no.3
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• pp.749-755
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• 2021

Congenital defects of the pericardium, which are generally asymptomatic, are rare disorders characterized by complete or partial absence of the pericardium. Here, we report a rare case of a 19-year-old male who was incidentally diagnosed with congenital absence of the left pericardium during examination for symptoms of pneumothorax. Chest radiography and CT revealed a collapsed left lung without any evidence of trauma, no unusual findings of free air spaces along the right side of the ascending aorta, heart shifted toward the left side of the thorax, and a shallow chest. Subsequent thoracoscopy confirmed the absence of the left pericardium and displacement of the heart toward the left thoracic cavity. We further discuss the correlation between radiologic images and surgical findings of a congenital pericardial defect associated with spontaneous pneumothorax.

• Journal of Chest Surgery
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• v.49 no.6
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• pp.421-426
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• 2016

Background: Median sternotomy is the standard approach for atrial septal defect (ASD) closure. However, minimally invasive cardiac surgery (MICS) has been introduced at many centers in adult/grown-up congenital heart patients. We retrospectively reviewed the results of right anterolateral thoracotomy compared with conventional median sternotomy (CMS) for ASD closure at Seoul National University Hospital. Methods: We retrospectively analyzed 60 adult patients who underwent isolated ASD closure from January 2004 to December 2013 (42 in the CMS group, 18 in the MICS group). Preoperative, operative, and postoperative data were collected and compared between the 2 groups. Results: The MICS group was younger (44.6 years vs. 32.4 years, p=0.002) and included more females (66.7% vs. 94.4%, p=0.025) than the CMS group. Operation time (188.4 minutes vs. 286.7 minutes, p<0.001), cardiopulmonary bypass time (72.7 minutes vs. 125.8 minutes, p<0.001), and aortic cross-clamp time (25.5 minutes vs. 45.6 minutes, p<0.001) were significantly longer in the MICS group. However, there were no significant differences in morbidity and mortality between groups. Only chest tube drainage in the first 24 hours (627.1 mL vs. 306.1 mL, p<0.001) exhibited a significant difference. Conclusion: MICS via right anterolateral thoracotomy is an alternative choice for ASD closure. The results demonstrated similar morbidity and mortality between groups, and favored MICS in chest tube drainage in the first 24 hours.

• Journal of Chest Surgery
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• v.54 no.1
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• pp.45-52
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• 2021

Background: Atrial septal defect (ASD) is the most common congenital heart disease. However, the details of cardiac chamber remodeling after surgery are not well known, although this is an important issue that should be analyzed to understand long-term outcomes. Methods: Between November 2017 and January 2019, cardiac magnetic resonance imaging was performed preoperatively, at a 1-month postoperative follow-up, and at a 1-year postoperative follow-up. Cardiac chamber volume, valve regurgitation volume, and ejection fraction were measured as functions of time. Results: Thirteen patients (10 men and 3 women) were included. The median age at surgery was 51.4 years. The preoperative median ratio of flow in the pulmonary and systemic circulation was 2.3. The preoperative mean right ventricular (RV) end-diastolic volume index (EDVi) and RV end-systolic volume index (ESVi) had significantly decreased at the 1-month postoperative follow-up (p<0.001, p=0.001, respectively). The decrease in the RVEDVi (p=0.085) and RVESVi (p=0.023) continued until the postoperative 1-year follow-up, although the rate of decrease was slower. Tricuspid valve regurgitation had also decreased at the 1-month postoperative follow-up (p=0.022), and continued to decrease at a reduced rate (p=0.129). Although the RVEDVi and RVESVi improved after ASD closure, the RV volume parameters were still larger than the left ventricular (LV) volume parameters at the 1-year follow-up (RVEDVi vs. LVEDVi: p=0.016; RVESVi vs. LVESVi: p=0.001). Conclusion: Cardiac remodeling after ASD closure is common and mainly occurs in the early postoperative period. However, complete normalization does not occur.

• BMB Reports
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• v.42 no.1
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• pp.6-15
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• 2009

The most common genetic disorder Down syndrome (DS) displays various developmental defects including mental retardation, learning and memory deficit, the early onset of Alzheimer's disease (AD), congenital heart disease, and craniofacial abnormalities. Those characteristics result from the extra-genes located in the specific region called 'Down syndrome critical region (DSCR)' in human chromosome 21. In this review, we summarized the recent findings of the DYRK1A and RCAN1 genes, which are located on DSCR and thought to be closely associated with the typical features of DS patients, and their implication to the pathogenesis of neural defects in DS. DYRK1A phosphorylates several transcriptional factors, such as CREB and NFAT, endocytic complex proteins, and AD-linked gene products. Meanwhile, RCAN1 is an endogenous inhibitor of calcineurin A, and its unbalanced activity is thought to cause major neuronal and/or non-neuronal malfunction in DS and AD. Interestingly, they both contribute to the learning and memory deficit, altered synaptic plasticity, impaired cell cycle regulation, and AD-like neuropathology in DS. By understanding their biochemical, functional and physiological roles, we hope to get important molecular basis of DS pathology, which would consequently lead to the basis to develop the possible therapeutic tools for the neural defects in DS.