• Journal of the Korean Arthroscopy Society
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• v.1 no.1
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• pp.108-111
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• 1997

Congenital deficiency of the anterior cruciate ligament (ACL) is a rare disorder that has been reported in association with other knee dysplasia like as congenital knee dislocation. congenital short femur, congenital absence of menisci, congenital ring meniscus, and thrombocytopenia-absent radius syndrome. There has been no published explanation about the etiology of bilaeral ACL deficiencies without other abnomality. The patient of congenital ACL deficiency must be carefully inspected about combined anomaly. Those efforts may be helful in treatment or ACL deficient patients and evaluation of pathophysiology or ACL deficiency. However there has not been a ruptured congenital deficiency of the ACL without other dysplasia or the knee and other congenital skeletal abnomalities. We reported a case of symptomatic bilateral congenital deficiencies of the ACL which have not been associated with other skeletal abnormalities.

• Advances in pediatric surgery
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• v.5 no.2
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• pp.137-140
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• 1999

Congenital afibrinogenemia is a rare disorder characterized by a congenital lack of fibrinogen, a key component of the hemostatic system. Bleeding manifestations of congenital afibrinogenemia vary in severity from mild to catastrophic. This is a case report of splenic rupture occurred in an eight-year-old boy with congenital afibrinogenemia. Nonoperative treatment with cryoprecipitate and virally inactivated, purified fibrinogen concentrates successfully avoided splenectomy.

• Clinical and Experimental Pediatrics
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• v.54 no.12
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• pp.512-514
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• 2011

Congenital syphilis is one of the most well-known congenital infections, yet it remains a worldwide public health problem. Congenital syphilis can involve any organ system and present with various symptoms. However, early diagnosis of congenital syphilis is difficult because more than half of the affected infants are asymptomatic, and the signs in symptomatic infants may be subtle and nonspecific. Here, we report a case of congenital syphilis with only a skin rash, which led to a delay in diagnosis. This case indicates that congenital syphilis should be considered throughout early childhood.

• Neonatal Medicine
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• v.28 no.3
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• pp.99-107
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• 2021

Purpose: Studies have been conducted on the prevalence and infant mortality rate of congenital anomalies; however, studies on child mortality are rare. Therefore, we evaluated the characteristics of deaths associated with congenital anomalies among children born in Korea who died within 5 years of age. Methods: Birth-to-death cohort linked data of children under the age of 5 years from 2010 to 2013, and statistical data on the cause of death by age from 1999 to 2019, both provided by the Korea National Statistical Office's Microdata Integrated Service, were retrospectively investigated. We investigated the trends and characteristics of mortality associated with congenital anomalies. Results: Among 1,858,945 children, 6,510 children who died were under 5 years of age, and among them, 1,229 deaths were associated with congenital anomalies, while 5,281 deaths were due to other causes. Deaths associated with congenital anomalies accounted for 18.9% of all deaths. When comparing congenital anomalies by systems, anomalies of the cardiovascular system (52.6%) were the most common. The mortality rate associated with congenital anomalies and those of other causes showed similar declining trends in 21 years. Conclusion: The mortality rate of congenital anomalies during the first 5 years of life did not increase differently from the prevalence of congenital anomalies but rather decreased. Deaths associated with congenital anomalies accounted for 20.5% of all infant deaths and 12.1% of child deaths, since the major causes of death in infants and children are slightly different, continuous and careful monitoring is required.

• Korean Circulation Journal
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• v.52 no.3
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• pp.233-242
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• 2022

Background and Objectives: For adult men with congenital heart disease (ACHD), data on erectile dysfunction (ED) is limited. We aimed to assess the frequency of ED, its role in patient-physician communication and to identify parameters predicting ED. Methods: Male ACHD ≥18 years registered at the German National Register for Congenital Heart Defects were invited to participate in an online questionnaire about sexual health. Participants with presumed ED according to International Index of Erectile Function Score were compared to patients without ED. Results: The 371 patients responded to the questionnaire (83% with moderate to highly complex ACHD). The 43% presented with more than mild ED. When ED was present, patients complained about general anxiety to be sexually active more often (p<0.05) and underwent sexual activity less frequently compared to those without ED (p<0.05). Age ≥40 years (odds ratio [OR], 3.04; p=0.002), being single (OR, 6.82; p<0.0001), anxiety to be sexually active (OR, 2.64; p=0.0002) and psychiatric disease (OR, 4.33; p<0.0007) emerged as independent predictors for ED. Overall, patients sought medical advice in 6.7% of cases, whilst 29.6% would appreciate an active approach by the physician to address this sensitive topic. Conclusions: ED is affecting one third to one half of male ACHD according to a questionnaire-based analysis. Older age, being single, fear of sexual activity due to ACHD and psychiatric disorder emerged as independent predictors for ED. These parameters can easily be assessed to identify patients at risk. ED should be addressed proactively by health professionals.

• Korean journal of dermatology
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• v.56 no.9
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• pp.556-560
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• 2018

Congenital hemangioma (CH) is a fully formed benign vascular tumor at the time of birth and do not proliferate in postnatal life. CH must be differentiated from infantile hemangioma. CH has three subtypes that are recognized based on their natural history: Rapidly involuting congenital hemangioma (RICH), non-involuting congenital hemangioma (NICH), and partially involuting congenital hemangioma (PICH). It is important to distinguish RICH from NICH because RICH spontaneously regresses but NICH does not. Herein, we report two patients diagnosed with RICH and NICH, respectively. We presented the clinical features as well as ultrasonographic and histologic findings to distinguish congenital from infantile hemangioma.

• Korean Circulation Journal
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• v.52 no.8
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• pp.623-631
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• 2022

Background and Objectives: Pulmonary valve replacement (PVR) is the most common operation in adults with congenital heart disease (CHD). There is controversy regarding the best bioprosthesis. We compare the performance of stented bioprosthetic valves (the Mosaic [Medtronic^TM] porcine pericardial against Carpentier Perimount Magna Ease [Edwards^TM] bovine) in pulmonary position in patients with CHD. Methods: Between January 1999 and December 2019, all the PVRs were identified from hospital databases in 2 congenital heart centres in Spain. Valve performance was evaluated using clinical and echocardiographic criteria. Propensity score matching was used to balance the 2 treatment groups. Results: Three hundred nineteen patients were retrospectively identified. After statistical adjustment, 79 propensity-matched pairs were available for comparison Freedom from reintervention for the porcine cohort was 98.3%, 96.1%, and 91.9% at 3, 5, and 10 years and 100%, 98%, and 90.8% for the bovine cohort (p=0.88). Freedom from structural valve degeneration (SVD) for the porcine cohort was 96.9%, 92.8% and 88.7% at 3, 5, and 10 years and 100%, 98%, and 79.1% for the bovine cohort (p=0.38). Bovine prosthesis was associated with a reintervention hazard ratio (HR), 1.12; 95% confidence intervals (CIs), 0.24-5.26; p=0.89 and SVD HR, 1.69 (0.52-5.58); p=0.38. In the first 5 years, there was no difference in outcomes. After 5 years, the recipients of the bovine bioprosthesis were at higher risk for SVD (reintervention HR, 2.08 [0.27-16.0]; p=0.49; SVD HR, 6.99 [1.23-39.8]; p=0.03). Conclusions: Both bioprosthesis have similar outcomes up to 5 years, afterwards, porcine bioprosthesis seem to have less SVD.

• Journal of Chest Surgery
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• v.49 no.4
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• pp.295-297
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• 2016

Aorto-ventricular tunnel is a rare congenital malformation, and aorto-right ventricular tunnel (ARVT) is an even less common entity. Here, we report the case of a 3-month-old female who underwent successful surgical closure of ARVT. The origin of the right coronary artery was proximal to the ostium of the tunnel.

• Journal of Chest Surgery
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• v.22 no.3
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• pp.514-517
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• 1989

Congenital esophageal stenosis is a rare disease in childhood. By virtue of its complex embryological development, the esophagus is the site of many congenital abnormalities. Congenital Esophageal stenosis is one tenth as rare as tracheoesophageal fistula with esophageal atresia and is very rare in the cervical esophagus, which mostly occurred below mid-esophagus. Congenital esophageal web may be caused by the resorption failure of the epithelium following the vacuolization stage in embryonic development in the esophagus. Recently, we experienced 1 cases of congenital esophageal web, as the symptoms of life-long dysphagia. According to her history of dysphagia, radiologic and clinical findings, her esophageal stenosis was considered as congenital. For dilatation and relief of dysphagia, she underwent the Heineke-Mikulicz type of esophagoplasty. The results of surgical treatment were relatively good without any clinical events. So we reported it with its literature review.

• Journal of Chest Surgery
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• v.14 no.1
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• pp.87-90
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• 1981

Genetic and environmental factors are the two areas which have received attention in the etiology of congenital cardiac malformation. Genetic factor in many types of congenital heart disease have not been clearly delineated. Congenital heart diseases are a heterogenous category of developmental anomalies, representing in most cases the multifactorial inheritance of threshold characters, the expression of which is the product of a genetic - environmental interaction. Recently we experienced three pairs of congenital heart disease in siblings including ventricular septal defects in twin.