BACKGROUND: Through a genome-wide search using the genetic markers(RFLP genetic markers), the familial hypertrophic cardiomyopathy(FHCM) with an autosomal dominant mode of inheritance has been firstly detected to be genetically linked to chromosome 14q1. The subsequent studies have shown that the point mutations at the exons encoding for the head and head /rod junction of the cardiac beta myosin heavy chain(beta-MHC) are the most frequent type of mutation in the FHCM families genetically implicated with a linkage to beta-MHC, whereas the alpha/beta-MHC hybrid gene and a large deletion at the 3' region of beta-MHC gene were also rarely detected. With the other families genetically implicated with the chromosomes 1,11,15,16 and 18, FHCM also manifests locus heterogeneity, a phenomenon in which abnormalities at different genes are involved in different families. In addition, a korean FHCM family with 403Arg-->Gln mutation of beta-MHC gene has been previously found by an american research group. METHODS: For clinical diagnosis, echocardiography and electrocardiography were performed on the individual members of a korean FHCM family. The microsatellite markers(MYO-I,MYO-II) located in the beta-MHC gene region were amplified by PCR(polymerase chain reaction) and the polymorphism was analyzed for the possible linkage to the phenotypic expression of FHCM. Independently, the same PCR products of the exons 13 and 23 were digested with the specific restriction enzymes for the presence of the most frequently reported point mutations of beta-MHC gene (403 and 908 amino acid mutations). Single strand conformation polymorphism(SSCP) of the exon 13 and 23 of the beta-MHC gene was also analyzed of the mobility shift expected if any point mutation is present at these two exons. RESULTS: The inheritance pattern of HCM(hypertrophic cardiomyopathy) in the family is considered as autosomal dominant. In this family(KU 101), one of the microsatellite markers(MYO-II) indicated the possible cosegregation between the allele was also present in the 32-year-old brother of the proband, who reveals no clinical signs of the disease. The other microsatellite genetic marker(MYO-I) was uninformative, without giving the discriminating power to verify the linkage to beta-MHC gene. In the analysis for two common mutations of beta-MHC gene by PCR-RFLP and PCR-SSCP, no evidence was found for 403 and 908 amino acid mutations and any point mutation in the exons 13 and 23. CONCLUSIONS: Based on the linkage analysis using microsatellite genetic markers, there was a possibility that the disease could be linked to an abnormality in the beta-MHC gene of the chromosome 14q1.
Adult ; Alleles ; Cardiomyopathy, Hypertrophic, Familial* ; Diagnosis ; Echocardiography ; Electrocardiography ; Exons ; Genetic Markers ; Head ; Humans ; Inheritance Patterns ; Mass Screening* ; Microsatellite Repeats ; Point Mutation ; Polymerase Chain Reaction ; Population Characteristics ; Siblings ; Ventricular Myosins* ; Wills

BACKGROUND: Through a genome-wide search using the genetic markers(RFLP genetic markers), the familial hypertrophic cardiomyopathy(FHCM) with an autosomal dominant mode of inheritance has been firstly detected to be genetically linked to chromosome 14q1. The subsequent studies have shown that the point mutations at the exons encoding for the head and head /rod junction of the cardiac beta myosin heavy chain(beta-MHC) are the most frequent type of mutation in the FHCM families genetically implicated with a linkage to beta-MHC, whereas the alpha/beta-MHC hybrid gene and a large deletion at the 3' region of beta-MHC gene were also rarely detected. With the other families genetically implicated with the chromosomes 1,11,15,16 and 18, FHCM also manifests locus heterogeneity, a phenomenon in which abnormalities at different genes are involved in different families. In addition, a korean FHCM family with 403Arg-->Gln mutation of beta-MHC gene has been previously found by an american research group. METHODS: For clinical diagnosis, echocardiography and electrocardiography were performed on the individual members of a korean FHCM family. The microsatellite markers(MYO-I,MYO-II) located in the beta-MHC gene region were amplified by PCR(polymerase chain reaction) and the polymorphism was analyzed for the possible linkage to the phenotypic expression of FHCM. Independently, the same PCR products of the exons 13 and 23 were digested with the specific restriction enzymes for the presence of the most frequently reported point mutations of beta-MHC gene (403 and 908 amino acid mutations). Single strand conformation polymorphism(SSCP) of the exon 13 and 23 of the beta-MHC gene was also analyzed of the mobility shift expected if any point mutation is present at these two exons. RESULTS: The inheritance pattern of HCM(hypertrophic cardiomyopathy) in the family is considered as autosomal dominant. In this family(KU 101), one of the microsatellite markers(MYO-II) indicated the possible cosegregation between the allele was also present in the 32-year-old brother of the proband, who reveals no clinical signs of the disease. The other microsatellite genetic marker(MYO-I) was uninformative, without giving the discriminating power to verify the linkage to beta-MHC gene. In the analysis for two common mutations of beta-MHC gene by PCR-RFLP and PCR-SSCP, no evidence was found for 403 and 908 amino acid mutations and any point mutation in the exons 13 and 23. CONCLUSIONS: Based on the linkage analysis using microsatellite genetic markers, there was a possibility that the disease could be linked to an abnormality in the beta-MHC gene of the chromosome 14q1.
Adult ; Alleles ; Cardiomyopathy, Hypertrophic, Familial* ; Diagnosis ; Echocardiography ; Electrocardiography ; Exons ; Genetic Markers ; Head ; Humans ; Inheritance Patterns ; Mass Screening* ; Microsatellite Repeats ; Point Mutation ; Polymerase Chain Reaction ; Population Characteristics ; Siblings ; Ventricular Myosins* ; Wills

PURPOSE: To report the clinical efficacy and safety of progressive keratoconic eyes in Korean patients treated with accelerated corneal cross-linking. METHODS: This retrospective study focused on progressive keratoconic eyes in Korean patients that underwent accelerated corneal cross-linking from February 2015 to October 2015. Keratoconus was diagnosed in 45 eyes in 30 patients. After accelerated corneal cross-linking with VibeX rapid solution, best corrected visual acuity, maximum keratometry, mean keratometry, corneal thickness, corneal astigmatism, and endothelial cell count were measured at the preoperative visit and post operation 1 week, 1 month, 3 months, and 6 months. RESULTS: Best corrected visual acuity (log MAR) was 0.51 ± 0.23 at pre operation and 0.51 ± 0.26 at post operation 6 months, showing no improvement. The maximum keratometry measured with Auto K, Pentacam, and Orbscan II at pre operation was 49.11 ± 4.5 D, 48.37 ± 3.31 D, and 48.98 ± 4.88 D and changed to 49.29 ± 4.34 D, 46.99 ± 3.63 D, and 47.01 ± 3.62 D postoperatively, respectively. Only Pentacam and Orbscan II measurements showed a statistically significant decrease (p < 0.05). Corneal thickness (at the thinnest area) was measured with Pentacam and Orbscan II; pre-operative and post-operative 6 month data showed changes from 485 ± 26.27 and 479.24 ± 27.89 to 471.64 ± 27.12 and 472.52 ± 25.36, respectively. Only the Pentacam method resulted in a statistically significant decrease. Endothelial cell count was measured with confocal microscopy and showed a statistically significant difference between pre-operative 2,857 ± 390.49/mm² and post-operative 6 month 2,639.21 ± 249.92/mm². CONCLUSIONS: This 6-month follow-up study of Korean keratoconus patients who underwent accelerated corneal cross-linking indicates that the method is effective in stabilizing the progression of keratoconus, according to maximum keratometry change. With regard to endothelial cell count change, further long-term evaluation is required. Other than endothelial cell count change, this procedure is expected to show long-term safety comparable to that of conventional corneal cross-linking.
Astigmatism ; Collagen* ; Endothelial Cells ; Follow-Up Studies ; Humans ; Keratoconus* ; Methods ; Microscopy, Confocal ; Retrospective Studies ; Treatment Outcome ; Visual Acuity

Purpose: To study the risk factors for steroid-induced glaucoma patients requiring glaucoma surgery, despite being fully treated with medications and laser trabeculoplasty. Methods: The charts of 50 eyes diagnosed with steroid-induced glaucoma from January 2012 to December 2015 were reviewed retrospectively. 28 eyes required surgery and 22 eyes were successfully treated with medications and laser trabeculoplasty. The demographic information as well as ocular parameters, presence of ocular/systemic comorbidities, and past history of steroid use were evaluated to determine the risk factors associated with the need for glaucoma surgery. Results: For the 7 factors that were statistically significant by univariate regression analysis, multivariate regression analysis showed that the average retinal nerve fiber layer thickness and duration of steroid use were not statistically significant (p = 0.876 and p = 0.068, respectively), whereas age and initial intraocular pressure were only statistically significant in some of the analysis models (p = 0.040-0.278, p = 0.016-0.201, respectively). Myopia, vertical cup-to-disc ratio, and systemic comorbidities had statistically significant correlations (p = 0.019, p = 0.011-0.03, p = 0.022, respectively) with surgical decision by multivariate regression analysis. Conclusions The risk factors for requiring glaucoma surgery in steroid-induced glaucoma patients were young age, myopia, initial optic nerve damage, systemic disease (systemic lupus erythematosus, rheumatoid arthritis, and atopy), and duration of steroid use. These results may be helpful in predicting the prognosis of patients with steroid-induced glaucoma and in screening for patients who require a more aggressive treatment at the time of disease presentation.

BACKGROUND AND OBJECTIVES: During coronary angioplasty, a distal embolization of the intracoronary thrombus is associated with an increased risk of myocardial infarction and mortality. Recently, distal protection devices have been tested for distal embolization with varying success. Here we report the experiences with one of the distal protection devices, Percusurge(r). SUBJECTS AND METHODS: From January 2001 to August 2001, 5 cases of a Percusurge(r) being used in patients with intracoronary thrombus were experienced during the angioplasty (male:4, female:1). Both the pre- and post-procedural clinical findings of the patients, the angiographic findings, the number of acute complications, the presence of biochemical marker such as CK-MB, and any in-hospital cardiac events were reviewed. RESULTS: Percusurge(r) was used in the right coronary artery (RCA) in 4 cases and in the saphenous vein graft in 1. The clinical diagnosis included stable angina (2 patients), non-Q wave myocardial infarction (1 patient), and Q-wave myocardial infarction (2 patients). The patients showed a TIMI 0 or 1 flow in 4 patients with a RCA lesion and TIMI 3 flow in 1 patient with a saphenous vein graft lesion. However, the TIMI 3 flow was recovered in all cases after the intervention. The CK-MB level did not show any significant changes between the pre- and post-procedure in 4 cases (11.2 +/- 3.2 U/L vs 10.2 +/- 2.1 U/L). However, one of the distal branchs was totally occluded by the distal embolization of the thrombus, and the CK-MB level increased from 2.1 U/L to 22.7 U/L. Otherwise, no procedure-related complications or major in-hospital cardiac events were observed. CONCLUSION: The use of the distal protection device, Percusurge(r), may reduce both the procedural and clinical complications during a coronary intervention in the thrombus-containing lesion. However, a large prospective study is needed to define the role of the distal protection device.
Angina, Stable ; Angioplasty ; Biomarkers ; Coronary Thrombosis ; Coronary Vessels ; Diagnosis ; Humans ; Mortality ; Myocardial Infarction ; Saphenous Vein ; Thrombosis* ; Transplants

BACKGROUND AND OBJECTIVES: Neurocardiogenic syncope is believed to be caused by a transient imbalance of autonomic nervous system. Actually, there were significant differences in heart rate variability (HRV) indices during head-up tilt test between patients with neurocardiogenic syncope and normal controls. But there was no definite evidence for it during daily activity. So, we tried to evaluate HRV during daily activity with 24-hour ambulatory electrocardiography monitoring. MATERIALS AND METHODS: 27 patients with neurocardiogenic syncope or presyncope (mean age 45+/-3) and 25 normal volunteers (mean age 47+/-2) comparable for age and sex underwent 24-hour ambulatory electrocardiography. Head-up tilt test was used to diagnose neurocardiogenic syncope or presyncope in patients group. HRV was analysed over the whole 24 hours, using time and frequency domain parameters. Student's t-test was applied. ResultsThere were no significant differences in HRV measures between two groups, over 24-hour period and day-time and night-time period. But the hourly HRV measures showed a transient decrease of LF, LFnorm and LF/HF ratio in patients group compared to normal control group. CONCLUSIONS: These results indicate that patients with neurocardiogenic syncope or presyncope suffer from temporarily decreased sympathetic tone with normal parasympathetic tone. So, transient additive change of autonomic nervous tone may cause syncope or presyncope in these patients. (Korean Circulation J 2000;30 (6):716-723)
Autonomic Nervous System ; Electrocardiography, Ambulatory ; Healthy Volunteers ; Heart Rate* ; Heart* ; Humans ; Syncope* ; Syncope, Vasovagal*

BACKGROUND AND OBJECTIVES: It has been well known that the Braunwald classification is an appropriate clinical parameter in the prediction of the outcome in patients with unstable angina. However, the ability of the classification to predict prognosis of unstable angina according to treatment strategy is not established. We evaluated the relation between severity of angina on admission and outcome of primary unstable angina with early invasive strategy. MATERIALS AND METHOD: 148 patients (M 85, F 63, age 61+/-10) with suspected unstable angina were divided into three subgroups on the basis of the Braunwald classification on admission. The patients were followed up to 6 months prospectively if the final diagnosis was primary unstable angina. Early invasive strategy was used for the treatment of unstable angina. Major cardiac events were assessed during hospitalization and 6 months follow-up period according to the Braunwald classification. RESULTS: Unstable angina was diagnosed in 95 patients (64%). Among these patients, 89 patients with primary unstable angina were followed up to 6 months. Clinical characteristics including number of patients, mean age, sex ratio, risk factors, coronary angiographic findings and revascularization rate during hospitalization were not different in three subgroups of these patients. Among these patients, early coronary revascularizations was performed in 67 patients (75%) and 2 (2%) deaths/myocardial infarctions occurred during hospitalization. During the follow-up period, 1 (1%) myocardial infarction/death and 12 (13%) revascularizations occurred. Cardiac event rate (death, myocardial infarction or revascularization) was not different during hospitalization and 6 months follow-up period among subgroups of severity class. CONCLUSION: Clinical outcome should be reevaluated after early coronary intervention to predict cardiac event in patients with unstable angina.
Angina, Unstable* ; Classification ; Diagnosis ; Follow-Up Studies ; Hospitalization ; Humans ; Infarction ; Myocardial Infarction ; Prognosis ; Prospective Studies ; Risk Factors ; Sex Ratio

BACKGROUND AND OBJECTIVES: Coronary artery disease (CAD) is the leading cause of death in postmenopausal women, and exercise echocardiography was reported to be a useful noninvasive test for diagnosis of CAD and risk-stratification in the era of fundamental echocardiographic imaging. This study was performed to determine whether normal findings on exercise echocardiography using advanced imaging equipments such as harmonic imaging provide useful data on prognosis in postmenopausal women with chest pain. METHOD: The study population consisted of 102 patients with postmenopausal women who were proven to be normal on exercise echocardiography from August 1997 to January 1999. Patients were followed up for a mean duration of 3.5 years. These patients were classified into 3 groups on existence of risk factors; low-risk, moderate-risk, high-risk. End points during follow-up were all-cause mortality and cardiac events (cardiac death, nonfatal myocardial infarction and coronary revascularization). We studied the prognostic value of exercise echocardiography in 102 patients of postmenopausal women with chest pain (mean age 59+/-6 years). RESULT: Of these 102 patients, 1 patient (0.1%) among the high-risk group underwent coronary revascularization and 2 patients (1.9%) among low- and moderate-risk group died of non-cardiac reasons. No cardiac deaths or nonfatal myocardial infarction were reported. According to risk group classification, there was no difference in major adverse cardiac events between each risk groups. ST segment change on exercise electro-cardiography was observed in 7 patients (7%). CONCLUSION: Normal results on exercise echocardiography using harmonic imaging in postmenopausal women with chest pain is a good method of predicting long-term prognosis.
Cause of Death ; Chest Pain ; Classification ; Coronary Artery Disease ; Death ; Diagnosis ; Echocardiography* ; Female ; Follow-Up Studies ; Humans ; Mortality ; Myocardial Infarction ; Prognosis ; Risk Factors

BACKGROUND AND OBJECTIVES: ovastatin, a HMG-CoA reductase inhibitor, is known to show antiproliferative effects on VSMC after vessel injury, but a large amount of the drug is needed orally for this purpose. This study investigated the effects of lovastatin given locally to injured carotid arteries of rats on reducing neointimal hyperplasia. MATERIALS AND METHOD: Lovastatin was given perivascularly to balloon-injured carotid arteries of 21 rats in 1 microM to the low-dose group, and 30 microM to the high-dose group. The control group was treated with pluronic gel only. Two weeks later, the lumen area, neointimal areas and the number of actively proliferating cells were obtained and compared. RESULTS: eointimal area was 0.113+/-0.032 mm2, 0.065+/-0.017 mm2, 0.072+/-0.017 mm2 in the control, low-dose and high-dose groups respectively. The area was significantly smaller in the treatment groups (p<0.05), but no significant difference was observed between the treatment groups. The number of actively proliferating cells per mm2 of neointimal area were 714.5+/-227.4, 688.4+/-333.7, and 1526.3+/-744.0 in the groups respectively, and the number was significantly high in the high-dose group (p<0.05). CONCLUSION: Local administration of lovastatin is effective in reducing neointimal hyperplasia after vascular injury, but extremely high doses are not needed locally for this purpose.
Animals ; Carotid Arteries* ; Carotid Artery Injuries* ; Hyperplasia* ; Lovastatin* ; Oxidoreductases ; Rats* ; Vascular System Injuries

BACKGROUND AND OBJECTIVES: Heart rate variability(HRV) reflects the autonomic integration of heart. There were many reports that HRV in patients with myocardial infarction or heart failure is an independent prognostic factor to predict fatal arrhythmia and sudden cardiac death. But, the role of HRV is still controversial in stable angina patients without history of myocardial infarction. In this study, we tried to compare HRV indices between stable angina patients and normal subjects. MATERIALS AND METHODS: Twenty-one stable anginal patients without history of myocardial infarction (mean age : 57 +/- 2 years) and twenty-one relatively healthy persons without history of coronary heart disease (mean age : 53 +/- 2 years) were included in the study and underwent 24-hour ambulatory ECG monitoring. In patients group, all underwent coronary angiography after 24-hour ambulatory ECG monitoring. HRV was analyzed over the whole 24 hours, using time and frequency domain parameters, according to time phases and coronary angiographic severity. RESULTS: There were no significant differences in age, sex and cardiovascular risk factors, except hypertension (p=.001) between two groups. HRV indices such as rMSSD, pNN50, LF, HF, LFnorm and HFnorm were significantly decreased (p<0.05) in patients group. But the angiographic severity of coronary arteries did not show any significant effect on the HRV indices in patients group. CONCLUSIONS: We observed significantly reduced HRV indices in patients with stable angina without history of myocardial infarction.
Angina, Stable* ; Arrhythmias, Cardiac ; Coronary Angiography ; Coronary Disease ; Coronary Vessels ; Death, Sudden, Cardiac ; Electrocardiography ; Heart Failure ; Heart Rate* ; Heart* ; Humans ; Hypertension ; Myocardial Infarction* ; Risk Factors