• Journal of Genetic Medicine
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• v.18 no.2
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• pp.147-151
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• 2021

The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (Online Mendelian Inheritance in Man #603736) is a rare autosomal dominant disorder and clinically features blepharophimosis with ptosis, a mask-like facial appearance, cryptorchidism, congenital heart defect, long thumbs/great toes, and thyroid dysfunction. The etiology of SBBYSS has been shown to be due to heterozygous KAT6B gene mutation. Here we report a case of a neonate with SBBYSS identified a novel mutation in KAT6B gene. The patient showed typical dysmorphic facies, cryptorchidism with micropenis, overriding fingers, and long thumbs and toes at birth. He had also hypothyroidism, large atrial septal defect, and sensorineural hearing loss. The next generation sequencing identified a heterozygous novel variant, c.5206C>T (p.Gln1736Ter) in KAT6B gene. At the 9 months of age, he underwent patch closure for atrial septal defect. Until the 12-month follow-up, he was under-developed.

• Journal of Chest Surgery
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• v.46 no.5
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• pp.340-345
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• 2013

Background: This study aims to evaluate whether or not the method of right vertical axillary minithoracotomy (RVAM) is preferable to and as reliable as conventional sternotomy surgery, and also assesses its cosmetic results. Methods: Thirty-three patients (7 males, 26 females) with atrial septal defect were admitted to the Cardiovascular Surgery Clinic of Cukurova University from December 2005 until January 2010. The patients' ages ranged from 3 to 22. Patients who underwent vertical axillary minithracotomy were assigned to group I, and those undergoing conventional sternotomy, to group II. Group I and group II were compared with regard to the preoperative, perioperative and postoperative variables. Group I included 12 females and 4 males with an average age of $16.5{\pm}9.7$. Group II comprised 14 female and 3 male patients with an average age of $18.5{\pm}9.8$ showing similar features and pathologies. The cases were in Class I-II according to the New York Heart Association (NYHA) Classification, and patients with other cardiac and systemic problems were not included in the study. The ratio of the systemic blood flow to the pulmonary blood flow (Qp/Qs) was $1.8{\pm}0.2$. The average pulmonary artery pressure was $35{\pm}10$ mmHg. Following the diagnosis, performing elective surgery was planned. Results: No significant difference was detected in the average time of the patients' extraportal circulation, cross-clamp and surgery (p>0.05). In the early postoperative period of the cases, the duration of mechanical ventilator support, the drainage volume in the first 24 hours, and the hospitalization time in the intensive care unit were similar (p>0.05). Postoperative pains were evaluated together with narcotic analgesics taken intravenously or orally. While 7 cases (43.7%) in group I needed postoperative analgesics, 12 cases (70.6%) in group II needed them. No mortality or major morbidity has occurred in the patients. The incision style and sizes in all of the patients undergoing RVAM were preserved as they were at the beginning. Furthermore, the patients of group I were mobilized more quickly than the patients of group II. The patients of group I were quite pleased with the psychological and cosmetic results. No residual defects have been found in the early postoperative period and after the end of the follow-up periods. All of the patients achieved functional capacity per NYHA. No deformation of breast growth has been detected during 18 months of follow-up for the group I patients, who underwent RVAM. Conclusion: To conclude, the repair of atrial septal defect by RVAM, apart from the limited working zone for the surgeon in these pathologies as compared to sternotomymay be considered in terms of the outcomes, and early and late complications. And this has accounted for less need of analgesics and better cosmetic results in recent years.

• Journal of Genetic Medicine
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• v.15 no.1
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• pp.20-23
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• 2018

Point mutations in the human cardiac homeobox gene NKX2.5 are associated with familial atrial septal defect (ASD), atrioventricular (AV) conduction disturbance, as well as sudden cardiac death. To date, more than 60 NKX2.5 mutations have been documented, but there are no reports in Korea. We are reporting the first Korean family with ASD and AV block associated with a novel mutation in the NKX2.5 coding region. A 9-year-old boy presented with a slow and irregular pulse, and was diagnosed with secundum ASD and first degree AV block. The boy's father, who had a history of ASD correction surgery, presented with second degree AV block and atrial fibrillation. The boy's brother was also found to have secundum ASD and first degree AV block. There were two sudden deaths in the family. Genetic testing revealed a novel mutation of NKX2.5 in all affected members of the family.

• Journal of Chest Surgery
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• v.25 no.9
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• pp.905-911
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• 1992

Automatic junctional tachycardia is one of common atrial arrhythmia after open heart surgery which is often refractory to antiarrhythmic agents. We have experienced refractory automatic junctional tachycardia in two patients. In the first, it occured after cryosurgery for AV nodal reentry tachycardia and simultaneous dissection of a posterior septal bypass tract. In the second, it complicated the postoperative course of a patient who received intracardiac repair for double outlet right ventricle, ventricular septal defect, and pulmonary stenosis. Conventional therapy with atrial pacing, verapamil, digoxin, and electrical cardioversion were ineffective. Therefore, amiodarone was administered intravenously and it controlled automatic junctional tachycardia. The need for accurate and rapid diagnosis of this condition along with results of treatment are discussed.

• Journal of Chest Surgery
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• v.29 no.2
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• pp.171-176
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• 1996

From March, 1983 to June, 1994, twenty-two patients underwent coronary artery and combined operations. The ages of the patients ranged from 42 years to 72 years (mean 60.4$\pm$8.2 years). There were 17 male and 5 female patients. The left ventricular (LV) ejection fraction ranged from 25% to 65% (mean 46.9$\pm$14.2%). Nine patients had mechanical complication of myocardial infarction (MI), of which 5 were LV aneurysm, 3 ventricular septal defect and 1 mitral regurgitation. Nine patients had rheumatic valvular heart disease of whom 7 with aortic valve disease and 2 with mitral valve disease. Two other patients had left atrial thrombi, only one with atrial septal defect a d another with aneurysm of ascending aorta. An average of 2.1$\pm$1.0 bypasses was done, ranging from one to four. There were 3 postoperative complications; 2 perioperative MI and 1 leg wound infection. Among complicated patients, mortality was 1 patient (4.5%) due to low cardiac output syndrome after perioperative MI. With 3 to 136 months follow-up (mean 41.1$\pm$40.2 months), late mortality was 1 patient due to cerebral vascular accident. Among long-term survivors, all patients are in New York Heart Association functional class I or II. Although the number of patients was small, our surgical results were favorable. Therefore we think that coronary revascularization combined with heart operation does not increase the operative risk when associated coronary artery disease is present, and it reduces the occurrence of late death.

• Journal of Chest Surgery
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• v.28 no.8
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• pp.747-753
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• 1995

Patients over 14 years of age who have undergone a surgical correction of a congenital cardiac malformations during period of August 1959 through December 1993 have been reviewed. During this period, there were 6894 cases of congenital cardiac lesions consisting of 4576 acyanotic and 2318 cyanotic cases. Among them, a total of 1389 adults [20.1%with various congenital cardiac malformations, 1126 acyanotic group and 263 cyanotic group were operated on. 677 patients were male and 712 patients were female. There were 444 patients under 20 years of age, 365 patients between 20-24 years, 220 patients between 25-29 years, 138 patients between 30-34 years and 222 patients over 34 years. The most common defects were atrial septal defect which accounted for 500 cases [36.0%and another common malformations were ventricular septal defect [276 cases, 19.9% , patent ductus arteriosus [207 cases, 14.9% , tetralogy of Fallot [185 cases, 13.3%and pulmonary stenosis [44 cases, 3.2%in order of incidence. Overall operative mortality for this series was 2.7% [1.5% of acyanotic group and 7.9% of cyanotic groupcompared with 4.6% of operative mortality of total cases of congenital cardiac malformations [2.9% of acyanotic group and 16.7% of cyanotic group . This reviewed series reveals the incidence of operable congenital heart defects appearing in any adult life and demonstrates that surgical repair can be accomplished with a satisfactory low mortality rate.

• Journal of Veterinary Clinics
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• v.26 no.2
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• pp.155-159
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• 2009

A 2-year-old female mixed dog(weighing 4.3 kg) was referred to the Veterinary Teaching Hospital, Kangwon National University, with primary complaints of exercise intolerance, nocturnal coughing and heart murmur. Diagnostic studies revealed bi-lateral holosystolic murmurs on phonocardiogram, over-riding aorta, pulmonic stenosis, ventricular septal defect, atrial septal defect, biventricular hypertrophy, and subaortic stenosis in diagnostic imaging studies. Based on the diagnostic findings, pentalogy of Fallot(POF) with subaortic stenosis(SAS) was tentatively diagnosed. This is the first case report of POF complicated with SAS in a dog in Korea.

• Journal of Chest Surgery
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• v.20 no.3
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• pp.520-527
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• 1987

Clinical analysis was performed of 89 secundum type atrial septal defect patients operated on during the period from July, 15th, 1981 to March, 1987 in the Thoracic and Cardiovascular Surgery Department of Pusan National University Hospital. Secundum type ASD was 2`I.0% among all of congenital heart diseases operated in the same period. The age distribution of patients ranged from 3 to 41 years and sex ratio, male to female was 1.23 to 1.0. Common symptoms were exertional dyspnea 64.0%, frequent upper respiratory infection 43.8%, cyanosis 10.1% and fatigue 7.9%. The mean value of cardiac catheterization data of the group of ASD combined with another cardiovascular anomalies was compared with that of only ASD group. The amount of shunt showed not statistically significant difference between two groups [P>0.05] but pulmonary arterial pressure and pulmonary vascular resistance of combined group was significantly higher than that of only ASD group [P<0.02, P<0.01]. The difference of mean hemodynamic data between the age group below 20 years and above 21 years was not statistically significant [P>0.05]. All cases were operated under cardiopulmonary bypass. Among these 51 were closed directly and 38 were applied Dacron patch. Two most common associated cardiac anomalies were pulmonary stenosis [8 cases, 9.0%] and VSD [8 cases, 9.0%]. The most frequent postoperative complication was wound infection, One patient died of low cardiac output on 10th postoperative day and the overall operative mortality was 1.1%

• Journal of Chest Surgery
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• v.47 no.6
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• pp.529-532
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• 2014

An eight-day-old neonate was diagnosed with dextro-transposition of the great arteries, atrial septal defect, patent ductus arteriosus, and a single sinus origin of the coronary arteries. The single coronary artery originated from the left sinus (sinus 2), had a proximal left circumflex arterial branch, and passed anteriorly to the right side of the aorta, further branching into the right coronary and left anterior descending arteries. We successfully performed an arterial switch operation and coronary transfer by tube graft reconstruction with autologous aortic tissue to treat the dextro-transposition of the great arteries and atrial septal defect with a single-sinus origin of the coronary arteries.

• Journal of Chest Surgery
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• v.10 no.1
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• pp.106-112
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• 1977

Transposition of the great arteries is one of the commonest forms of severe congenital heart disease and produces severe cyanosis threatening survival from the day of birth. Anatomical anomalies which the aorta arises from the infundibulum of the right ventricle and the pulmonary artery arises from the outflow tract of the left ventricle make the deranged circulation. Survival is possible only if additional anomalies are present which allow mixing of the pulmonary and systemic circulations. Preoperative diagnosis as TGA was taken on the 15 day old female via the preoperative examination and the right cordioangiography. As palliative treatment for cyanosis, Blalock-Hanlon operation was performed in this patient. The results were good as 54 mmHg changed from 27 mmHg of $PO_2$ in aorta, but sudden cardiac arrest was developed in postoperative 12 hours. In order to confirm the cause of death and the cardiac anomalies, autopsy was performed on the date of death. The diagnosis of the autopsy showed; [1] Transposition of the Great Arteries. [2] Patent Ductus Arteriosus. [3] Patent Foramen Ovale. [4] Ventricular Septal Defect, 2 Muscular Type. [5] Double Ureter, Right. [6] Artificial Atrial Septal Defect. [7] Total Collapse of the left lung and Intraparenchymal hemorrhage of right lung.