• Journal of Genetic Medicine
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• 제18권2호
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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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• 제46권5호
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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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• 제15권1호
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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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• 제25권9호
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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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• 제29권2호
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• pp.171-176
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• 1996

1983년 3월부터 1994년 6월까지 22명의 환자에게 관상동맥 우회로 조성수술과 병행한 개심수술을 시행하였다. 대상환자들의 연령은 42세에서 72세 사이로 평균 60.4$\pm$8.2세였다. 이중 17명의 환자가 남자였고, 여자환자는 5명이 었다. 좌심실 박출계수는 25%에서 65% 사이로 평균 46.9 $\pm$ 14.2%였다. 22명의 대상환자중 9명이 심근경색증의 합병증으로 발생한 기계적인 장애를 동반하고 있었으며, 이중 5명은 좌심실류, 3명은 심실중격 결손 그리고 1명은 유두근 파열에 의한승모판 폐쇄부전증이 롱반되었다. 나머지 대상환자중 9명은 류마티스성 판막질환(대동맥판막 질환 7명, 승모판막 질환 2명)을 동반하였고, 2명은 좌심방혈전, 1명은 심방중격 결손 그리고 1명은 상행대동맥류를 동반하였다. 관상동맥 이식 편수는 1개에서 4개 사이로 평균 2.1$\pm$1.0개였다 수술후 합병증은 3명에서 발생하였으며, 이중 2명은 수술전후 심근경색증, 1명은 하지의 창상감염이었다. 수술사망은 1명에서 발생하였으며, 사망원인은 수술전후 심근경색증에 의한 저심박출량에 기인하였다. 추적조사 기간은 3개월에서 136개월 사이로 평균 41.1$\pm$ 40.2개월이었으며, 이기간 동안 1명\ulcorner 사망하였다. 사망원인은 뇌출혈이었다. 장기생존한 20명의 New York Heart Association functional class는 모두 I과 II였다. 비록 대상환자의 수가 적다고는 하지만 저자들의 수술결과는 양호한 것으로, 따라서 저자들은 관상동맥 우회로 조성수술을 병행한 개심수술이 수술위험도가 높지 않으면서 만기 사망율도 줄일 수 있을 것으로 생각한다.

• Journal of Chest Surgery
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• 제28권8호
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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.

• 한국임상수의학회지
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• 제26권2호
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• pp.155-159
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• 2009

암컷 잡종견(2년령, 체중 4.3 kg)이 운동불내성, 야행성 기침, 심잡음을 주증상으로 강원대학교 수의학부대학 부속동물병원에 내원하였다. 전수축기성 잡음이 양쪽에서 청진되었으며, 영상진단에서 대동맥 변위, 폐동맥협착, 심실중격결손, 심방중격결손, 양심실의 비대, 대동맥하협착이 확인되었다. 이러한 소견들을 바탕으로 대동맥하 협착증을 동반한 팔로오증으로 진단을 내렸다. 이는 국내에서 진단된 대동맥하 협착증과 복합된 팔로오증의 첫 번째 증례보고이다.

• Journal of Chest Surgery
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• 제20권3호
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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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• 제47권6호
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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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• 제10권1호
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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.