No abstract available.
Coronary Vessels* ; Endocarditis* ; Fistula*

No abstract available.
Mitral Valve*

Differentiating arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) from other cardiomyopathies is clinically important but challenging. Although the modified Task Force Criteria can facilitate diagnosis of ARVD/C according to clinical manifestations, histopathological examination plays a pivotal role in excluding other diseases that can mimic ARVD/C. Here, we report a patient with amyloidosis that initially presented similarly to ARVD/C. The diagnosis was confirmed by endomyocardial biopsy, and catheter ablation eliminated the ventricular tachyarrhythmias through an epicardial approach.
Advisory Committees ; Amyloidosis* ; Arrhythmogenic Right Ventricular Dysplasia ; Biopsy ; Cardiomyopathies ; Catheter Ablation* ; Catheters* ; Diagnosis ; Humans ; Tachycardia ; Tachycardia, Ventricular

We report a new α-Galactosidase A (αGal-A) mutation in a 39-year-old Korean born, male Fabry disease patient. Fabry disease is a devastating, progressive inborn error of metabolism caused by X-linked genetic mutations. In this case, the first clinical symptom to occur was in childhood consisting of a burning pain originating in the extremities then radiating inwards to the limbs. This patient also stated to have ringing in his ears, angiokeratomas on his trunk, and cornea verticillata. He visited an outpatient cardiologist due to intermittent and atypical chest discomfort at the age of 39. Electrocardiographic and echocardiographic examination showed left ventricular hypertrophy. A physical examination revealed proteinuria without hematuria. The patient's plasma αGal-A activity was markedly lower than the mean value of the controls. After genetic counseling and obtaining written informed consent, we identified one hemizygous mutation in exon 4 of galactosidase alpha, c.617T>C (p.Leu206 Pro). He was eventually diagnosed as having Fabry disease.
Adult ; Angiokeratoma ; Burns ; Cornea ; Ear ; Echocardiography ; Electrocardiography ; Exons ; Extremities ; Fabry Disease* ; Galactosidases ; Genetic Counseling ; Hematuria ; Humans ; Hypertrophy, Left Ventricular ; Informed Consent ; Male ; Metabolism ; Outpatients ; Physical Examination ; Plasma ; Proteinuria ; Thorax

Genetic diagnosis of cardiomyopathies is challenging, due to the marked genetic and allelic heterogeneity and the lack of knowledge of the mutations that lead to clinical phenotypes. Here, we present the case of a large family, in which a single TNNI3 mutation caused variable phenotypic expression, ranging from restrictive cardiomyopathy (RCMP) to hypertrophic cardiomyopathy (HCMP) to near-normal phenotype. The proband was a 57-year-old female with HCMP. Examining the family history revealed that her elder sister had expired due to severe RCMP. Using a next-generation sequencing-based gene panel to analyze the proband, we identified a known TNNI3 gene mutation, c.433C>T, which is predicted to cause an amino acid substitution (p.Arg145Trp) in the highly conserved inhibitory region of the cardiac troponin I protein. Sanger sequencing confirmed that six relatives with RCMP or near-normal phenotypes also carried this mutation. To our knowledge, this is the first genetically confirmed family with diverse phenotypic expression of cardiomyopathies in Korea. Our findings demonstrate familial implications, where a single mutation in a sarcomere protein can cause diverse phenotypic expression of cardiomyopathies.
Amino Acid Substitution ; Cardiomyopathies* ; Cardiomyopathy, Hypertrophic ; Cardiomyopathy, Restrictive ; Diagnosis ; Female ; Humans ; Korea ; Middle Aged ; Phenotype ; Population Characteristics ; Sarcomeres ; Siblings ; Troponin I

BACKGROUND AND OBJECTIVES: Left bundle branch block (LBBB) with left axis deviation (LAD) has a worse prognosis than LBBB with a normal axis, and myocardial dysfunction has been suggested as a cause of left axis deviation. This study investigated the prognostic significance of the QRS axis in patients with LBBB and analyzed its relationship with the amount of myocardial scarring. SUBJECTS AND METHODS: A total of 829 patients were diagnosed with LBBB at Seoul National University Hospital from October 2004 to June 2014. Of these, 314 who were asymptomatic and had no previous history of cardiac disease were included in the present study. Myocardial scarring was calculated using the Selvester QRS scoring system, and LAD was defined as a QRS axis between -180° and -30°. RESULTS: Of the total patients, 91 (29%) had LAD, and patients were followed for a median of 30 months. During follow-up, two patients were hospitalized for de novo heart failure, four had pacemaker implants, and 10 died. There was a significant inverse correlation between myocardial scar score and the QRS axis (r=-0.356, p<0.001). Patients with concomitant LAD had a higher rate of major cardiac adverse events compared with patients with a normal axis (5.5% vs. 1.3%, log-rank p=0.010); the prognostic value was attenuated in multivariable analysis (hazard ratio 4.117; 95% confidence interval 0.955-17.743; p=0.058). CONCLUSION: Concomitant LAD is an indicator of poor prognosis for patients with LBBB and may be associated with greater myocardial scarring.
Bundle-Branch Block* ; Cicatrix* ; Electrocardiography ; Electrophysiology ; Follow-Up Studies ; Heart Diseases ; Heart Failure ; Humans ; Prognosis ; Seoul

BACKGROUND AND OBJECTIVES: The aim of this study was to investigate the effect of pulmonary valve replacement (PVR) on exercise capacity and determine cardiopulmonary exercise (CPEX) parameters associated with improvement in right ventricle (RV) function. SUBJECTS AND METHODS: We retrospectively analyzed CPEX and magnetic resonance imaging parameters in a total of 245 patients who underwent PVR from January 1998 to October 2015. In addition, we analyzed the characteristics of the patients who showed improved exercise capacity after PVR. RESULTS: Twenty-eight patients met the inclusion criteria for the study. CPEX parameters after PVR showed no significant changes in all patients. However, baseline predicted peak oxygen uptake (VO2(peak)) (%) value was significantly lower in patients with significant improvement in exercise capacity after PVR, as compared to patients who showed decreased exercise capacity after PVR (60.83±10.28 vs. 75.81±13.83) (p=0.003). In addition, patients with improved exercise capacity showed a positive correlation between the change of right ventricular ejection fraction (RVEF) (%) and the change of anaerobic threshold (r=0.733, p=0.007); whereas, patients with decreased exercise capacity showed a negative correlation between the change of RVEF (%) and the change of predicted VO2(peak) (%) (r=−0.575, p=0.020). CONCLUSION: The importance of predicted VO2(peak) (%) in evaluating exercise capacity differentiated from other CPEX variables. The change of anaerobic threshold and predicted VO2(peak) (%) might be a useful predictor of the change in RV function after PVR.
Anaerobic Threshold ; Exercise Test ; Heart Ventricles ; Humans ; Magnetic Resonance Imaging ; Oxygen ; Pulmonary Valve* ; Retrospective Studies ; Stroke Volume ; Tetralogy of Fallot*

BACKGROUND AND OBJECTIVES: Assessment of left ventricle (LV) function by using strain and strain rate is popular in the clinical setting. However, the use of these echocardiographic tools in assessing right ventricle (RV) failure, and the manner in which they both reflect the functional capacity of the patient, remains poorly understood. This study aimed to investigate the change in exercise capacity and strain between before and (1 month) after the transcatheter closure of atrial septal defects (ASDs). SUBJECTS AND METHODS: Thirty patients who underwent transcatheter closure of ASD between May 2014 and June 2015 at the Division of Pediatric Cardiology, Severance Cardiovascular Hospital, were enrolled. We compared and analyzed the results of the following examinations, before and (1 month) after the procedure: echocardiography, cardiopulmonary exercise test (CPET), and N-terminal pro-brain natriuretic peptide level. RESULTS: There were no mortalities, and the male-to-female ratio was 1:2. The mean defect size was 22.3±4.9 mm; the mean Qp/Qs ratio, 2.1±0.5; and the mean device size, 22.3±4.9 mm. Changes in global RV longitudinal (GRVL) strain and LV torsion were measured echocardiographically. Exercise capacity improved from 7.7±1.2 to 8.7±1.8 metabolic equivalents (p=0.001). These findings correlated to the change in GRVL strain (p=0.03). CONCLUSION: The average exercise capacity increased after device closure of ASD. The change in strain was evident on echocardiography, especially for GRVL strain and LV torsion. Further studies comparing CPET and strain in various patients may show increased exercise capacity in patients with improved RV function.
Cardiology ; Echocardiography ; Exercise Test ; Heart Septal Defects, Atrial* ; Heart Ventricles ; Humans ; Metabolic Equivalent ; Mortality ; Natriuretic Peptide, Brain

BACKGROUND AND OBJECTIVES: In clinical trials, hypertensive patients tend to have higher interleukin-18 (IL-18) concentrations than normotensive groups, but the relationship between IL-18 and left ventricular hypertrophy (LVH), which is a marker of end-organ damage, is not well studied. We aimed to investigate the relationship between IL-18 and LVH in apparently healthy subjects free of clinically significant atherosclerotic disease. SUBJECTS AND METHODS: We enrolled 198 subjects (102 women and 96 men) between May 2006 and March 2007, who were free of cardiovascular or immune diseases, but were suspected to have hypertension. Twenty-four-hour ambulatory blood pressure monitoring and two-dimensional echocardiography were performed. Lipid profiles, high-sensitivity CRP (hs-CRP), IL-18, and whole blood cell counts were measured for all subjects. RESULTS: White blood cell count, hs-CRP, left ventricular mass, left ventricular mass index (LVMI), and IL-18 were higher in the hypertensive group than in the normotensive group (p=0.045, p=0.004, p<0.0001, p=0.001, and p=0.017 respectively). Twenty-four hour day and night systolic and diastolic blood pressure averages were positively correlated with IL-18 level in the entire study population. In multivariate regression analysis, left ventricular mass index and hs-CRP level were independently associated with IL-18 level in both the hypertensive group and the entire study population (β=0.154, β=0.149 p=0.033, p=0.040 and β=0.151, β=0.155 p=0.036, p=0.032 respectively) CONCLUSION: We found that IL-18 level independently predicted LVMI in both the general population and in newly diagnosed hypertensive patients.
Blood Cell Count ; Blood Pressure ; Blood Pressure Monitoring, Ambulatory ; Echocardiography ; Female ; Healthy Volunteers ; Humans ; Hypertension ; Hypertrophy, Left Ventricular ; Immune System Diseases ; Inflammation ; Interleukin-18* ; Leukocyte Count

BACKGROUND AND OBJECTIVES: Vitamin D is generally known to be closely related to inflammation. The effects of vitamin D on coronary artery disease (CAD) are not fully explained. Nowadays, coronary artery ectasia (CAE) cases are common and are regarded as being a kind of CAD. We aimed to investigate, in a case-control study, the relationship between vitamin D and CAE without an associated inflammatory process. SUBJECTS AND METHODS: This study population included 201 patients (CAE group, 121 males; mean age, 61.2±6.4 years) with isolated CAE; and 197 healthy individuals (control group, 119 males; mean age, 62.4±5.8 years), comprising the control group, who had normal coronary arteries. These participants concurrently underwent routine biochemical tests, tests for inflammatory markers, and tests for 25-OH vitamin D in whole-blood draws. These parameters were compared. RESULTS: There are no statistical significance differences among the groups for basic clinical characteristics (p>0.05). Inflammatory markers were recorded and compared to exclude any inflammatory process. All of them were similar, and no statistical significance difference was found. The average parathyroid hormone (PTH) level of patients was higher than the average PTH level in controls (41.8±15.1 pg/mL vs. 19.1±5.81 pg/mL; p<0.001). Also, the average 25-OH vitamin D level of patients was lower than the average 25-OH vitamin D level of controls (14.5±6.3 ng/mL vs. 24.6±9.3 ng/mL; p<0.001). In receiver operating characteristic curve analysis, the observed cut-off value for vitamin D between the control group and patients was 10.8 and 85.6% sensitivity and 75.2% specificity (area under the curve: 0.854, 95% confidence interval: 0.678-0.863). CONCLUSION: We found that there is an association between vitamin D and CAE in patients who had no inflammatory processes. Our study may provide evidence for the role of vitamin D as a non-inflammatory factor in the pathophysiology of CAE.
C-Reactive Protein* ; Case-Control Studies ; Coronary Artery Disease ; Coronary Vessels* ; Dilatation, Pathologic* ; Humans ; Inflammation ; Male ; Parathyroid Hormone ; ROC Curve ; Sensitivity and Specificity ; Vitamin D Deficiency ; Vitamin D* ; Vitamins*