• Journal of Chest Surgery
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• v.39 no.8 s.265
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• pp.633-636
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• 2006

The partial endocardial cushion defect including ostium primum atrial septal defect and anterior mitral leaflet cleft, presents less significant clinical symptoms than complete endocardial cushion defect. But, as mitral insufficiency develops, cardiomegaly, congestive heart failure, pulmonary arterial hypypertension appear. So, partial endocardial cushion defect has poor prognosis and is rarely seen in elderly patients. A 67 years old woman admitted at our hospital for operative treatment with partial endocardial cushion defect. She had increased pulmonary pressure of 45/22 mmHg, mean 32 mmHg. She had repair of ostium primum defect with patch, and the mitral valve was treated with valve replacement. Because advanced atrioventricular block developed postoperatively, she received permanent pacemaker.

• Clinical and Experimental Pediatrics
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• v.59 no.1
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• pp.16-23
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• 2016

Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

• Journal of Chest Surgery
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• v.30 no.1
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• pp.17-26
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• 1997

Objeitives. The surgical mortality of congenital heart defects has been reduced (or the very young age group. Especially, young age at repair is an important risk factor for mortality after repair of tetralogy of Falloff. Some risk factors were analyzed Methods. Three hundred and sixty six patients underwent surgical Intervention. Ages ranged from 5 days to 64 years, and 80 patients were adults(over 15 years of age). The defects consisted of 313(84.2%) acyanotic and 53(15.8%) cyanotic anomalies. The surgical mortalities were evaluated by univariate and multivariate analysis. Results. The overall surgical mortality was 10.4%. Mos deaths occurred in the infant group younger than 6 months(20/38 deaths) and in cyanotic group(21/38 deaths). Surgical infant mortality younger than 12 months was 24.8%(25/101). Risk factors of mortality in open heart surgery were age(p< 0.0001), body weight(p< 0.0001), pump time(p< 0.0001), aortic cross clamp time(p< 0.0001), use of total circulatory arrest(p<0.0001) and cyanotic disease(p<0.0001) by univariate analysis. But by multivariate analysis, the risk factor of mortality in open heart surgery was disease entity(p=0.002) only. A disease group with the highest risk was a cyanotic group(odds ratio was 15.3 relative to ventricular septal defect) excluding tetralogy of Falloff(odds ratio=0.27). Conclusions. Even though the most important risk factor was disease entity, we should conentrate our efforts on the technically improvable factors affecting surgical mortality indicated by univarlate analysis.

• Journal of Chest Surgery
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• v.30 no.1
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• pp.88-91
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• 1997

Congenital long-segment tracheal stenosis with complex cardiac anomaly has generally been regarded as a fatal disease This report described the successful concomitant repair of unexpected congenital tracheal stenosis and complex cardiac anomaly with the use of edrdiopulmonary bypass. The patient was a 3-month-old girl with coarctation of aorta, V D, and PDA. The presence of tracheal stenosis was not discovered until when difficulty with endotracheal intubation was encountered at operating room. Thus, we decided concomitant repair of both lesions and performed anterior pericardial tracheoplasty combined with one stage repair of coarctation of aorta, VSD, and PDA under the cardiopulmonary bypass. The patient is doing well without any signs of complication at present, 2 years and 1 month after the operation.

• Journal of Chest Surgery
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• v.34 no.8
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• pp.626-629
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• 2001

Congenital polyvalvular disease is a connective tissue disorder affecting more than one heart valve with variable involvement of the entire valvular and subvalvular apparatus. It is frequently associated with the Trisomy 18 and trisomy 13-15 or ventricular septal defect and patent ductus arteriosus. We present an isolated case of congenital polyvalvular disease in a new born baby with a review of the pertinent literatures, which has not been described in Korea. The mass was discovered as a right atrial mass in the prenatal ultrasonography and it was thought to be either a hematoma or a myxoma in the preoperative echocardiography. Microscopic examination of the surgically resected mass showed irregular thickening, nodulation, and additional features of calcification and ossification in the valvular connective tissue on the body of anterior and septal leaflet of tricuspid valve. Congenital polyvalvular disease should be included in the differential diagnosis in cases showing valvular calcification or ossification in the fetal echocardiography.

• Journal of Chest Surgery
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• v.19 no.2
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• pp.265-272
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• 1986

We operated on 199 patients of VSD from 1976 to April l986. Among them, patients of VSD whose medical records were available were analyzed clinically. Operation on patients of VSD occupied 23.9% of total open heart surgery [832 cases] during those days. Of the 164 patients, 93 patients were male [56.7%]. 71 patients were female [43.3%]. Their age ranged from 6 months to 28 years and the mean age was 9.5 year and 82.2% of the patients were between 2 and 15 year of age. Of the patients, body weight below 10Kg were 19 cases. The most common complaints were frequent URI and DOE. On Kirklin`s anatomical classification, type II defect was most common [60.1%], type I [38.4%], combined type I+II, type III, combined type II+Ill and combined type II+IV in orders. Associated anomaly was found in 66 patients [42.5%>]. Pulmonary stenosis was most commonly associated cardiac anomaly [8.4%] and aortic insufficiency [7.1%], ASD, Lt. SVC and PDA in orders. There were extracardiac anomalies such as polydactyly, cleft palate, hypospadia and congenital aniridia, etc. Relationship between ventricular hypertrophy and defect size and cardiac cath. data was analyzed. The overall mortality was 7.0% [14 cases] and complication rate was 22.5% [35 cases].

• Journal of Chest Surgery
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• v.23 no.3
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• pp.430-437
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• 1990

We clinically evaluated 121 cases of ventricular septal defect which we operated from April, 1986 to December, 1989 at Inha General Hospital, Seong-Nam, Department of Thoracic and Cardiovascular Surgery, College of Medicine, Inha University. These patients were occupied 54.8% of all congenital heart diseases operated on its same period. Of the 121 patients, 63 patients were male[52.1%] and 58 patients were female[47.9i]. The two most common symptoms were frequent upper respiratory infection and dyspnea on exertion. By Kirklin s anatomical classification, type I constituted 34.7%, type II 61.98%, type III 0.03% and type IV not occupied. Associated cardiac anomalies were found in 34 cases, and PDA was most common associated anomaly, occupied in 22 cases. On the cardiac catheterization data, there were statistically significant correlation between VSD size[cm2 /BSAm2] and systolic pulmonary arterial pressure[sPAP], pulmonary to systemic flow ratio[Qp/Qs] & pulmonary to systemic pressure ratio[Pp/Ps] respectively, Type II [r=0.53, p<0.01] was more correlated than type I [r=0.49, p<0.05] between VSD size and Qp /Qs. We could not found the correlationship between age and Qp/Qs [Type I; r=0.16, Type II; r=-0.15] All cases were operated under cardiopulmonary bypass and 58 cases[46.3%] were operated through the right atrial approach, and 34 cases[28.1%] through the pulmonary arterial approach. Operative mortality rate was 4.13%[5 cases].

• Journal of Chest Surgery
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• v.21 no.4
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• pp.630-640
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• 1988

We clinically evaluated 222 cases of ventricular septal defect which we experienced at Department of Thoracic and Cardiovascular Surgery, Pusan National University Hospital between July 1981 and March 1988. These patients were occupied 46.2% of all congenital heart disease operated on its same period. Of 222 cases, 132 patients were male and 90 patients were female. Their age distribution ranged from 8 months to 34 years of age and their mean age was 10.3 years. Among these patients, 86 patients had associated cardiac anomalies, which were patent foramen ovale 43 cases[19.5%], Atrial septal defect 18 cases[8.1%], patent ductus arteriosus 8 cases[3.6%], aortic insufficiency 7 cases[3.2%], infundibular pulmonary stenosis 5 cases[2.3%] and etc. There was statistically significant correlationship between VSD size and Qp/Qs, Rp/Rs, Pp/Ps respectively. All cases were operated under cardiopulmonary bypass and 157 patients[70.7%] would be corrected through right atrial approach. 158 patients[71.2%] underwent closure of ventricular septal defect with primary closure and the remained patients[28.8%] with patch closure. In anatomical classification by Kirklin, type I constituted 23.4%, type II 73.4%, type III 0.5%, type I and type II 1.4%, and type II and type III 1.4%. Important postoperative EGG changes were noted in 57 cases[25.7%] and incomplete right bundle branch block was most common[12.6%]. 54 patients[24.3%] developed minor and major postoperative complications and 9 patients died of several complications and overall operative mortality was 4.1%.

• Journal of Chest Surgery
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• v.27 no.5
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• pp.353-363
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• 1994

From January 1978 to December 1992, 59 patients of double chambered right ventricle were repaired. Surgical correction consisted of closure of the ventricular septal defect and resection of anomalous muscle bundles through right ventriculotomy [Group I ; 34 patients] or right atriotomy [Group II ; 25 patients]. Between these two groups, there was no difference in the operation time and the postoperative results. All patients survived. In group I, hemodynamically significant residual ventricular septal defect was found in three and reoperations were necessary. In one patient, subacute bacterial endocarditis developed postoperatively. In group II, complete atrioventricular block developed in one and mediastinitis in two. Follow-up period was from 2 to 75 months [mean 17.1 months]. There was no late death. All patients have remained in sinus rhythm except one patient. Careful evaluation of echocardiographic and catheterization data preoperatively and careful examination of the anatomy intraoperatively are necessary so that double chambered right ventricle should not be overlooked, because most ventricular septal defects are now closed through the right atrium. Repair of double chambered right ventricle is also easily performed through the atrial approach. Transatrial repair should be considered as an alternative to the transventricular approach in patients with this congenital heart defect. Successful surgical correction of double chambered right ventricle is expected with excellent long term results.

• 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.