OBJECTIVE: Our purpose was to establish a birth defects monitoring system in Korea by multi-center study. This novel study was initiated in 1999, and extended to detect the frequencies and trends of birth defects in Korea. METHODS: Six centers participated in this study. The actively ascertained surveillance data was collected from May 1999 to November 2001. RESULTS: Of the 65,653 births included in this study, 1,143 (1.7%) had birth defects. About one third of them were terminated. While disease of the genitourinary tract was more frequent in isolated defects, cardiovascular disease was more frequent in combined defects (19.7% and 21.7%, respectively). Chromosomal anomalies were detected 23.5 per 10,000 births. And it showed increasing tendency for 3 years. CONCLUSION: We could establish multi-center monitoring system for birth defects successfully. But, many of the problems arising in the collection of accurate, valid, and comparable epidemiological data about birth defects have not yet been overcome. It appears that the development of joint projects at national level is essential for upgrading the quality and usefulness of this study.
Cardiovascular Diseases ; Congenital Abnormalities* ; Joints ; Korea* ; Parturition*

A pulmonary artery sling is a very rare congenital abnormality in which the left pulmonary artery rises from the posterior surface of the right pulmonary artery and then passes between the trachea and the esophagus, causing tracheal compression. It is associated with tracheo-bronchial abnormalities (50%) and cardiovascular abnormalities (30%). It may produce respiratory symptoms through the airway compression of the abnormal left pulmonary artery and congenital abnormalities associated with it. Because most (90%) pulmonary artery sling patients present symptoms during infancy, their condition is often diagnosed in the first year of life. However, a pulmonary artery sling is occasionally found in adults. It is usually asymptomatic and found incidentally. This is a very rare case of an asymptomatic pulmonary artery sling in an adult. A 38-year-old man presented symptoms of mild exertional dyspnea. His spiral computed tomography showed a pulmonary artery sling. He was discharged without specific treatment because his symptoms improved without specific treatment and might not have been associated with a pulmonary artery sling. We report an adult case of an asymptomatic pulmonary artery sling diagnosed via spiral computed tomography, accompanied by a literature review.
Adult* ; Cardiovascular Abnormalities ; Congenital Abnormalities ; Dyspnea ; Esophagus ; Humans ; Pulmonary Artery* ; Tomography, Spiral Computed ; Trachea

OBJECTIVE: A growing body of literature has documented that job stress is associated with the development of cardiovascular disease. Nevertheless, the pathophysiological mechanism of this association remains unclear. Therefore, we tried to elucidate the relationship between job stress, heart rate variability and metabolic syndrome. METHOD: The study design was cross-sectional, and 169 industrial workers were recruited. A structured-questionnaire was used to assess the general characteristics and job characteristics (work demand, decision latitude). Heart rate variability (HRV) was recorded using SA-2000 (medi-core). HRV was assessed by time-domain and by frequency-domain analyses. Time domain analysis was performed for SDNN (Standard Deviation of NN interval), and spectral analysis for low-frequency (LF), high-frequency (HF) and total frequency power. Metabolic syndrome was defined on the basis of clustering of risk factors, when three or more of the following cardiovascular risk factors were included in the fifth quintile: glucose, systolic blood pressure, HDL-cholesterol (bottom quintile), triglyceride and waist-hip ratio. RESULTS: The results showed that job characteristics were not associated with cardiovascular risk factors. The high strain group had a less favorable cardiovascular risk profile with higher levels of blood pressure, glucose, homocysteine, and clotting factor than the lower strain group (low strain+passive+active group), but the difference was not statistically significant. The SDNN of HRV was significantly lower in the high strain group than in the low strain group. The prevalence of metabolic syndrome in the low strain, passive, active and high strain groups was 9.7%, 13.9%, 14.9% and 23.8%, respectively. In the high strain group, the metabolic syndrome was significantly related to a decreased SDNN. However, we could not find a significant association in LF/HF ratio. CONCLUSION: This result suggests that decreased HRV does not play a role in the development of disease; however, it can induce cardiovascular abnormalities or dysfunctions related to the onset of heart disease among high risk groups.
Blood Pressure ; Cardiovascular Abnormalities ; Cardiovascular Diseases ; Glucose ; Heart Diseases ; Heart Rate* ; Heart* ; Homocysteine ; Prevalence ; Risk Factors ; Triglycerides ; Waist-Hip Ratio

Aneurysm ; pathology ; Aneurysm, Dissecting ; diagnosis ; Cardiovascular Abnormalities ; pathology ; Deglutition Disorders ; pathology ; Humans ; Male ; Middle Aged ; Subclavian Artery ; abnormalities ; pathology

Although it is a rare developmental malformation, van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for approximately 2% of all cleft cases. The lower lip pits with or without a cleft lip or palate is characteristic of the syndrome. Findings, such as hypodontia, limb deformities, popliteal webs, ankylogossia, ankyloblepheron, and genitourinary and cardiovascular abnormalities, are rarely associated with the syndrome. This paper reports a rare case of van der Woude syndrome in a 10-year-old male patient with a single median lower lip pit and a repaired bilateral cleft lip and cleft palate that were associated with microstomia, hypodontia, and clubbing of the left foot with syndactyly of the second to fifth lesser toes of the same foot.
Anodontia ; Cardiovascular Abnormalities ; Child ; Cleft Lip ; Cleft Palate ; Congenital Abnormalities* ; Extremities* ; Foot ; Humans ; Lip* ; Male ; Microstomia ; Palate ; Syndactyly ; Toes

Kommerell's diverticulum is a rare congenital disorder characterized by typical right sided aortic arch and aberrant left subclavian artery which are usually detected by accident in asymptomatic patients. However, some of patients complain of severe symptoms caused by compression of the adjacent organs or complicated aortic dissection by the diverticulum. Early detection of the disease can lead to elective surgical correction. In this article, we report a Kommerell's diverticulum case initially detected by transesophageal echocardiography.
Aneurysm ; Aorta, Thoracic ; Cardiovascular Abnormalities ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Deglutition Disorders ; Diverticulum ; Echocardiography, Transesophageal ; Humans ; Subclavian Artery

Fetal bilateral renal agenesis is a lethal congenital anomaly characterized by bilateral pulmonary hypoplasia, deformities and death due to severe oligohydramnios. This syndrome is associated with malformations of genitourinary tract, cardiovascular system, vertebral bodies or imperforated anus in more than half of the affected individuals. An early and reliable prenatal diagnosis is extremely important because it may offer options for pregnancy termination as early as possible. The criteria for the ultrasonographic diagnosis of bilateral renal agenesis are severe oligohydramnios, nonvisualization of the bladder, empty renal fossae. But poor sonographic resolution of severe oligohydramnios makes it difficult to diagnose the disease. We present a case of bilateral renal agenesis diagnosed at the 18th weeks gestation by using Transvaginal Ultrasonography and Color Doppler.
Anal Canal ; Cardiovascular System ; Congenital Abnormalities ; Diagnosis ; Female ; Oligohydramnios ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography* ; Urinary Bladder

Thanatophoric dysplasia (TD) is a lethal inherited skeletal disorder characterized by extremely short limbs, narrow chest, skull deformity and underdeveloped lungs. TD is divided into two types, depending primarily upon whether the bone in the upper leg (the femur) is curved or straight. We experienced two case of TD type I that were confirmed by clinical and radiological features after birth. Unlike previously reported cases of TD in our country, the multiple anomalies of CNS, kidney and cardiovascular system were identified in one of these cases.
Cardiovascular System ; Congenital Abnormalities ; Extremities ; Kidney ; Leg ; Lung ; Parturition ; Skull ; Thanatophoric Dysplasia ; Thorax ; Ultrasonography, Prenatal

Unilateral absence of pulmonary artery is a rare congenital anomaly that is frequently associated with other cardiovascular abnormalities. Most patients who have no associated cardiac anomalies have only minor or absent symptoms in childhood and survive into adulthood. We experienced a case of unilateral absence of pulmonary artery in a 5 year-old female patient with the chief complaint of abnormal chest X-ray finding. Unilateral absence of pulmonary artery was diagnosed by lung perfusion scan, cardiac catheterization with pulmonary and aortic angiography. So we report this case with brief review of related literatures.
Angiography ; Cardiac Catheterization ; Cardiac Catheters ; Cardiovascular Abnormalities ; Child, Preschool ; Female ; Humans ; Lung ; Perfusion ; Pulmonary Artery* ; Thorax

PURPOSE: Tracheal bronchus is an aberrant bronchus arising from tracheal wall above the carina. Most cases of tracheal bronchus are asymptomatic, so they are diagnosed incidentally. Tracheal bronchus may be associated with other anomalies. The aim of this study is to evaluate the clinical characteristics of tracheal bronchus. METHODS: This study was conducted on 19 children who were diagnosed as tracheal bronchus by the chest computed tomography from January 2000 to December 2011. Based on the medical record, clinical features, such as symptoms, radiologic findings, combined anomalies were evaluated retrospectively. RESULTS: The age at diagnosis was ranged from 2 day to 14 years (mean, 51 months). Among the 19 children, twelve children (63.2%) were boys and seven children (36.8%) were girls. Eighteen children (94.7%) had right-side tracheal bronchus and one child (5.3%) had left-side tracheal bronchus. Displaced type were fourteen children (73.7%), supernumerary type were five children (26.3%). Thirteen children (68.4%) had no respiratory symptoms, but five children (26.3%) had persistent cough and four children (21.1%) had recurrent wheezing. Combined congenital abnormalities were present in seventeen children (89.5%), including congenital cardiovascular anomaly (n=14, 73.7%), trachea-esophageal fistula (n=3, 15.8%), Down syndrome (n=2, 10.5%). CONCLUSION: The patients with tracheal bronchus had not severe respiratory symptoms, but had many combined anomalies. So, it is necessary to consider the presence of tracheal bronchus in children with respiratory symptom, like recurrent wheezing, and to evaluate clinical significance, like combined anomaly, in tracheal bronchus patients. The limitation of this study is that the study group includes many cardiovascular disease patients (84.2%).
Bronchi ; Cardiovascular Diseases ; Child ; Congenital Abnormalities ; Cough ; Down Syndrome ; Fistula ; Humans ; Medical Records ; Respiratory Sounds ; Thorax