Clinical and Genetic Features of Korean Inherited Arrhythmia Probands

Background and Objectives@#Inherited arrhythmia (IA) is a more common cause of sudden cardiac death in Asian population, but little is known about the genetic background of Asian IA probands. We aimed to investigate the clinical characteristics and analyze the genetic underpinnings of IA in a Korean cohort. @*Methods@#This study was conducted in a multicenter cohort of the Korean IA Registry from 2014 to 2017. Genetic testing was performed using a next-generation sequencing panel including 174 causative genes of cardiovascular disease. @*Results@#Among the 265 IA probands, idiopathic ventricular fibrillation (IVF) and Brugada Syndrome (BrS) was the most prevalent diseases (96 and 95 cases respectively), followed by long QT syndrome (LQTS, n=54). Two-hundred-sixteen probands underwent genetic testing, and 69 probands (31.9%) were detected with genetic variant, with yield of pathogenic or likely pathogenic variant as 6.4%. Left ventricular ejection fraction was significantly lower in genotype positive probands (54.7±11.3 vs. 59.3±9.2%, p=0.005). IVF probands showed highest yield of positive genotype (54.0%), followed by LQTS (23.8%), and BrS (19.5%). @*Conclusions@#There were significant differences in clinical characteristics and genetic yields among BrS, LQTS, and IVF. Genetic testing did not provide better yield for BrS and LQTS. On the other hand, in IVF, genetic testing using multiple gene panel might enable the molecular diagnosis of concealed genotype, which may alter future clinical diagnosis and management strategies.

Controlled Atrial Fibrillation after Pulmonary Vein Stenting

When there is no pulmonary vein reconnection after catheter ablation for atrial fibrillation, patients can experience recurrence of atrial fibrillation without clear evidence of non-pulmonary vein foci. We describe a patient with significant pulmonary vein stenosis and recurrent atrial fibrillation after four ablation procedures. After successful pulmonary vein stenting, the symptoms were resolved, and sinus rhythm was maintained for 2 years without treatment with antiarrhythmic medication. We believe pulmonary vein stenting potentially controlled atrial fibrillation by providing pulmonary vein pressure relief or by compressing the epicardial triggers occurring at the pulmonary vein ostium.

Associates and Prognosis of Giant Left Atrium; Single Center Experience

BACKGROUND: Left atrial (LA) remodeling develops as a result of longstanding pressure overload. However, determinants and clinical outcome of excessive remodeling, so called giant left atrium (GLA), are not clear. METHODS: Clinical characteristics of patients with GLA (antero-posterior diameter higher than 65 mm), including echo-Doppler parameters, and follow-up clinical outcomes from a tertiary referral hospital were investigated. RESULTS: Among 68519 consecutive primary patients who underwent echocardiography over a period of 10 years, data from 163 GLA cases (0.24%) were analyzed. Main causes were significant rheumatic mitral stenosis (n = 58, 36%); other causes comprised significant rheumatic mitral regurgitation (MR; n = 10, 6%), mitral valve (MV) prolapse or congenital mitral valvular disease (MVD) (n = 20, 12%), and functional MR (n = 25, 15%). However, mild rheumatic MV disease (n = 4, 3%) or left ventricular (LV) systolic or diastolic dysfunction without significant MR (n = 46, 28%) were also causes of GLA. During median follow-up of 22 months, 42 cases (26%) underwent composite events. MV surgery was related to lower rate of composite events. In multivariate analysis, MV surgery, elevated pulmonary arterial systolic pressure, and increased LA volume index were independent predictors of future events (p < 0.05) regardless of underlying diseases or history of MV surgery. CONCLUSION: Although rheumatic MVD with atrial fibrillation is the main contributor to GLA, longstanding atrial fibrillation with LV dysfunction but without MVD also could be related to GLA. Even in GLA state, accurate measurement of LA volume is crucial for risk stratification for future events, regardless of underlying disease.

Long-Term Prognosis of Patients with an Implantable Cardioverter-Defibrillator in Korea

PURPOSE: The objective of this study was to elucidate the long-term prognosis of patients with implantable cardioverter-defibrillators (ICDs) in Korea. MATERIALS AND METHODS: We enrolled 405 patients (age, 57.7±16.7 years; 311 men) who had undergone ICD implantation. The patients were divided into three groups: heart failure (HF) and ICD for primary (group 1, n=118) and secondary prevention (group 2, n=93) and non-HF (group 3, n=194). We compared appropriate and inappropriate ICD therapy delivery among the groups and between high- (heart rate ≥200 /min) and low-rate (<200 /min) ICD therapy zones. RESULTS: During the follow-up period (58.9±49.8 months), the annual appropriate ICD therapy rate was higher in group 2 (10.4%) than in groups 1 and 3 (6.1% and 5.9%, respectively, p<0.001). There were no significant differences in annual inappropriate ICD therapy rate among the three groups. In group 1, the annual appropriate ICD therapy rate was significantly lower in patients with a high-rate versus a low-rate therapy zone (4.5% and 9.6%, respectively, p=0.026). In group 3, the annual inappropriate ICD therapy rate was significantly lower in patients with a high-rate versus a low-rate therapy zone (3.1% and 4.0%, respectively, p=0.048). CONCLUSION: Appropriate ICD therapy rates are not low in Korean patients with ICD, relative to prior large-scale studies in Western countries. Appropriate and inappropriate ICD therapy could be reduced by a high-rate therapy zone in patients with HF and ICD for primary prevention, as well as non-HF patients, respectively.

Delayed Sealing of WATCHMAN Device Shunt

Although left atrial appendage closure is an alternative to warfarin use in atrial fibrillation patients with a high bleeding risk, long-term outcome data in real-world practice are still limited. We describe a delayed shunt on the WATCHMAN fabric membrane and associated stroke at 7 months after the procedure. This shunt on the device surface disappeared at 15 months on the follow-up transesophageal echocardiogram.

Utility of tools for the assessment of asthma control in childhood asthma

PURPOSE: The goal of asthma control is to maintain well-controlled state. In this study, we investigated whether childhood asthma control test (C-ACT) may reflect lung function and whether fractional exhaled nitric oxide (FeNO) can be used to improve the accuracy of C-ACT in reflecting the asthma control level. METHODS: We reviewed the medical records of 155 patients with asthma underwent lung function tests and C-ACT upon visiting our outpatient clinic. We compared lung function test results according to the C-ACT score stratified by atopy and also examined FeNO according to C-ACT and the Global Initiative for Asthma (GINA) guidelines. The diagnostic accuracy of well-controlled asthma by C-ACT, FeNO, and C-ACT+FeNO was examined. We also calculated the cutoff value of FeNO and C-ACT for well-controlled asthma. RESULTS: Peak expiratory flow (PEF) showed a significant correlation with the C-ACT score. Stratified by atopy, PEF, and forced expiration in one second (FEV1) showed significant correlations with the C-ACT score in the atopic asthma group. There was no difference in FeNO between subjects with C-ACT> or =20 and <20, but FeNO was significantly higher in the uncontrolled asthma according to the GINA guidelines. The diagnostic accuracy of well-controlled asthma was higher when FeNO was combined with the C-ACT score than C-ACT or FeNO. Our study showed that the cutoff values of C-ACT and FeNO 19 and 18.3 ppb (parts per billion), respectively, for well-controlled asthma. CONCLUSION: C-ACT showed a significant correlation with PEF, and atopic asthma group showed significant correlations with PEF and FEV1. A combination of C-ACT with FeNO might reflect asthma control status more accurately.

A Case of Juvenile Ankylosing Spondylitis with Atlantoaxial Bony Ankylosis and Rheumatoid-like Hands / 대한류마티스학회지

Ankylosing spondylitis (AS) is a heterogeneous and systemic rheumatic disorder of unknown cause that is characterized by inflammation of the spine and sacroiliac joints. It is more common in young men. The disease is frequently associated with peripheral arthritis, enthesitis, anterior uveitis and high prevalence of HLA-B27. In some patients with AS, peripheral arthritis can occurs earlier than spinal symptom and more commonly affects the lower extremities than the upper extremities. Unlike men, women appear to have milder or atypical AS, especially at juvenile onset. However, involvement of the hands is extremely rare. Juvenile AS, defined as onset of disease prior to the age of 16 years, is considered a pediatric form of AS. On the other hand, although the atlantoaxial subluxation has been infrequently observed in patients with ankylosing spondylitis, atlantoaxial bony ankylosis has not been described in the literature. We describe a 23-year-old woman with juvenile AS who developed the atlantoaxial bony ankylosis and the hand involvement mimicking rheumatoid arthritis. Besides the rheumatoid-like hands and atlantoaxial bony ankylosis, she has shown the typical features of spondyloarthrpathy such as bilateral sacroiliitis, inflammatory spinal pain, enthesitis, severe arthritis of both hip joints, and positive HLA-B27 test.

Systemic lupus erythematosus accompanied with idiopathic inflammatory myopathy: report of 2 cases / 대한내과학회지

Generalized myalgia and muscle tenderness are relatively common during exacerbations in patients with systemic lupus erythematosus (lupus), and inflammatory myositis involving the proximal muscles occurs in 5~11% of patients during the course of the disease. However, patients with overlap syndrome of lupus and idiopathic inflammatory myopathy have been not that frequent. We described 2 patients with overlap syndrome of these two diseases. Patient 1 was a 27-year-old female patient concurrently having lupus and dermatomyositis. She manifested the characteristic skin rash for dermatomyositis such as heliotrope rash. Patient 2 was a 32-year-old female patient concurrently having lupus and polymyositis, in whom the disease-specific autoantibodies for lupus or idiopathic inflammatory myopathy such as anti-ds DNA antibody, anti-Sm antibody and anti-Jo-1 antibody were positive.

A Case of Glomerulonephritis Associated with POEMS Syndrome / 대한신장학회잡지

A POEMS syndrome(polyneuropathy, organomegaly, endocrinopathy, monoclonal M protein, and skin lesion) is a rare multisystem disease of unknown cause with varying clinical manifestations. POEMS- associated renal disease is also a rare condition. We experienced a 42-year-old male who had been suffered from generalized edema, low extremity weakness and pain. He also had a significant hematuria, proteinuria, azotemia, hepatospenomegaly, intraperitoneal lymph node enlargement, hypothyroidism, IgA lamda type monoclonal gammopathy, specific skin change and ascites. In renal biopsy, membranoproliferative features with enlarged glomeruli, mesangial proliferation, capillary wall thickening and paucity of immune deposit was noted. We suppose that renal insufficiency could come from POEMS syndrome. His symptoms such as low extremity pain, azotemia and generalized edema were improved by hemodialysis and use of prednisolone. At present, he is under the treatment of prednisolone and melphalan.

Complications Associated With Open Reduction Of Mandibular Fractures

PURPOSE: The aim of this study was to evaluate the complications of open reduction and internal fixation of mandibular fracture with miniplates. PATIENTS AND METHODS: A total of 134 patients who presented with 196 fractures were analyzed retrospectively. Complications were evaluated for factors such as age, the site of fracture, the severity of fracture, delayed operation, preoperative wound contamination, the site and disposition of teeth in the fracture line and midfacial fractures. Statistical analysis was used to compare complications to risk factors. RESULTS: Of the 134 patients, 20 patients had some form of postoperative complications and complication rate was 14.9%. These complications included infection, plate fracture, malocclusion, wound dehiscence, nerve injury and nonunion. There was a significant correlation between complication rate and the severity of fracture, preoperative wound contamination and the site of the fracture and disposition of teeth(p<0.05). CONCLUSION: The occurrence of postoperative complications in the treatment of mandibular fractures was related to the severity of fracture, preoperative wound contamination and the site of the fracture and disposition of teeth.