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.

Long-Term Efficacy of Prophylactic Cavotricuspid Isthmus Ablation during Atrial Fibrillation Ablation in Patients Without Typical Atrial Flutter: a Prospective, Multicentre, Randomized Trial

Background and Objectives@#Cavotricuspid isthmus (CTI) block is easily achieved, and prophylactic ablation can be performed during atrial fibrillation (AF) ablation. However, the previous study was too small and short-term to clarify the efficacy of this block. @*Methods@#Patients who underwent catheter ablation for paroxysmal AF were enrolled, and patients who had previous or induced atrial flutter (AFL) were excluded. We randomly assigned 366 patients to pulmonary vein isolation (PVI) only and prophylactic CTI ablation (PVI vs. PVI+CTI). @*Results@#There was no significant difference in procedure time between the two groups because most CTI blocks were performed during the waiting time after the PVI (176.8±72.6 minutes in PVI vs. 174.2±76.5 minutes in PVI+CTI, p=0.75). All patients were followed up for at least 18 months, and the median follow-up was 3.4 years. The recurrence rate of AF or AFL was not different in the 2 groups (25.7% in PVI vs. 25.7% in PVI+CTI, p=0.92). The recurrence rate of any AFL was not significantly different in the 2 groups (3.3% in PVI vs. 1.6% in PVI+CTI, p=0.31). The recurrence rate of typical AFL also was not different (0.5% in PVI vs. 0.5% in PVI+CTI, p=0.99). @*Conclusions@#In this large and long-term follow-up study, prophylactic CTI ablation had no benefit in patients with paroxysmal AF without typical AFL.

Long-Term Efficacy of Prophylactic Cavotricuspid Isthmus Ablation during Atrial Fibrillation Ablation in Patients Without Typical Atrial Flutter: a Prospective, Multicentre, Randomized Trial

Background and Objectives@#Cavotricuspid isthmus (CTI) block is easily achieved, and prophylactic ablation can be performed during atrial fibrillation (AF) ablation. However, the previous study was too small and short-term to clarify the efficacy of this block. @*Methods@#Patients who underwent catheter ablation for paroxysmal AF were enrolled, and patients who had previous or induced atrial flutter (AFL) were excluded. We randomly assigned 366 patients to pulmonary vein isolation (PVI) only and prophylactic CTI ablation (PVI vs. PVI+CTI). @*Results@#There was no significant difference in procedure time between the two groups because most CTI blocks were performed during the waiting time after the PVI (176.8±72.6 minutes in PVI vs. 174.2±76.5 minutes in PVI+CTI, p=0.75). All patients were followed up for at least 18 months, and the median follow-up was 3.4 years. The recurrence rate of AF or AFL was not different in the 2 groups (25.7% in PVI vs. 25.7% in PVI+CTI, p=0.92). The recurrence rate of any AFL was not significantly different in the 2 groups (3.3% in PVI vs. 1.6% in PVI+CTI, p=0.31). The recurrence rate of typical AFL also was not different (0.5% in PVI vs. 0.5% in PVI+CTI, p=0.99). @*Conclusions@#In this large and long-term follow-up study, prophylactic CTI ablation had no benefit in patients with paroxysmal AF without typical AFL.

Usefulness of an Implantable Loop Recorder in Diagnosing Unexplained Syncope and Predictors for Pacemaker Implantation

A Long Journey to the Truth: Primary Cardiac Lymphoma with Various Arrhythmias from Ventricular Tachycardia to Atrial Flutter

No abstract available.

Usefulness of an Implantable Loop Recorder in Diagnosing Unexplained Syncope and Predictors for Pacemaker Implantation

BACKGROUND@#An implantable loop recorder (ILR) is an effective tool for diagnosing unexplained syncope (US). We examined the diagnostic utility of an ILR in detecting arrhythmic causes of US and determining which clinical factors are associated with pacemaker (PM) implantation.@*METHODS@#This retrospective, multicenter, observational study was conducted from February 2006 to April 2018 at 11 hospitals in Korea. Eligible patients with recurrent US received an ILR to diagnose recurrent syncope and document arrhythmia.@*RESULTS@#A total of 173 US patients (mean age, 67.6 ± 16.5 years; 107 men [61.8%]) who received an ILR after a negative conventional workup were enrolled. During a mean follow-up of 9.4 ± 11.1 months, 52 patients (30.1%) had recurrent syncope, and syncope-correlated arrhythmia was confirmed in 34 patients (19.7%). The ILR analysis showed sinus node dysfunction in 24 patients (70.6%), supraventricular tachyarrhythmia in 4 (11.8%), ventricular arrhythmia in 4 (11.8%), and sudden atrioventricular block in 2 (5.9%). Overall, ILR detected significant arrhythmia in 99 patients (57.2%) irrespective of syncope. Among patients with clinically relevant arrhythmia detected by ILR, PM implantation was performed in 60 (34.7%), an intra-cardiac defibrillator in 5 (2.9%), and catheter ablation in 4 (2.3%). In a Cox regression analysis, history of paroxysmal atrial fibrillation (PAF) (hazard ratio [HR], 2.34; 95% confidence interval [CI], 1.33–4.12; P < 0.01) and any bundle branch block (BBB) (HR, 2.52; 95% CI, 1.09–5.85; P = 0.03) were significantly associated with PM implantation.@*CONCLUSION@#ILR is useful for detecting syncope-correlated arrhythmia in patients with US. The risk of PM is high in US patients with a history of PAF and any BBB.

A deep learning model to predict recurrence of atrial fibrillation after pulmonary vein isolation

Background and Objectives@#The efficacy of radiofrequency catheter ablation (RFCA) in atrial fibrillation (AF) is well established. The standard approach to RFCA in AF is pulmonary vein isolation (PVI). However, a large proportion of patients experiences recurrence of atrial tachyarrhythmia. The purpose of this study is to find out whether the AI model can assess AF recurrence in patients who underwent PVI. @*Materials and methods@#This study was a retrospective cohort study that enrolled consecutive patients who under‑ went catheter ablation for symptomatic, drug-refractory AF and PVI. We developed an AI algorithm to predict recur‑ rence of AF after PVI using patient demographics and three-dimensional (3D) reconstructed left atrium (LA) images. @*Results@#We included 527 consecutive patients in the study. The overall mean LA diameter was 42.0 ± 6.8 mm, and the mean LA volume calculated using 3D reconstructed images was 151.1 ± 46.7 ml. During the follow-up period, atrial tachyarrhythmia recurred in 158 patients. The area under the curve (AUC) of the AI model based on a convolu‑ tional neural network (including 3D reconstruction images) was 0.61 (95% confidence interval [CI] 0.53–0.74) using the test dataset. The total test accuracy was 66.3% (57.0–75.6), and the sensitivity was 53.3% (34.8–71.9). The specificity was 73.2% (51.8–75.0), and the F1 score was 52.5% 34.5–66.7). @*Conclusion@#In this study, we developed an AI algorithm to predict recurrence of AF after catheter ablation of PVI using individual reconstructed LA images. This AI model was unable to predict recurrence of AF overwhelmingly;therefore, further large-scale study is needed.

A deep learning model to predict recurrence of atrial fibrillation after pulmonary vein isolation

Background and Objectives@#The efficacy of radiofrequency catheter ablation (RFCA) in atrial fibrillation (AF) is well established. The standard approach to RFCA in AF is pulmonary vein isolation (PVI). However, a large proportion of patients experiences recurrence of atrial tachyarrhythmia. The purpose of this study is to find out whether the AI model can assess AF recurrence in patients who underwent PVI. @*Materials and methods@#This study was a retrospective cohort study that enrolled consecutive patients who under‑ went catheter ablation for symptomatic, drug-refractory AF and PVI. We developed an AI algorithm to predict recur‑ rence of AF after PVI using patient demographics and three-dimensional (3D) reconstructed left atrium (LA) images. @*Results@#We included 527 consecutive patients in the study. The overall mean LA diameter was 42.0 ± 6.8 mm, and the mean LA volume calculated using 3D reconstructed images was 151.1 ± 46.7 ml. During the follow-up period, atrial tachyarrhythmia recurred in 158 patients. The area under the curve (AUC) of the AI model based on a convolu‑ tional neural network (including 3D reconstruction images) was 0.61 (95% confidence interval [CI] 0.53–0.74) using the test dataset. The total test accuracy was 66.3% (57.0–75.6), and the sensitivity was 53.3% (34.8–71.9). The specificity was 73.2% (51.8–75.0), and the F1 score was 52.5% 34.5–66.7). @*Conclusion@#In this study, we developed an AI algorithm to predict recurrence of AF after catheter ablation of PVI using individual reconstructed LA images. This AI model was unable to predict recurrence of AF overwhelmingly;therefore, further large-scale study is needed.

Usefulness of an Implantable Loop Recorder in Diagnosing Unexplained Syncope and Predictors for Pacemaker Implantation

BACKGROUND@#An implantable loop recorder (ILR) is an effective tool for diagnosing unexplained syncope (US). We examined the diagnostic utility of an ILR in detecting arrhythmic causes of US and determining which clinical factors are associated with pacemaker (PM) implantation.@*METHODS@#This retrospective, multicenter, observational study was conducted from February 2006 to April 2018 at 11 hospitals in Korea. Eligible patients with recurrent US received an ILR to diagnose recurrent syncope and document arrhythmia.@*RESULTS@#A total of 173 US patients (mean age, 67.6 ± 16.5 years; 107 men [61.8%]) who received an ILR after a negative conventional workup were enrolled. During a mean follow-up of 9.4 ± 11.1 months, 52 patients (30.1%) had recurrent syncope, and syncope-correlated arrhythmia was confirmed in 34 patients (19.7%). The ILR analysis showed sinus node dysfunction in 24 patients (70.6%), supraventricular tachyarrhythmia in 4 (11.8%), ventricular arrhythmia in 4 (11.8%), and sudden atrioventricular block in 2 (5.9%). Overall, ILR detected significant arrhythmia in 99 patients (57.2%) irrespective of syncope. Among patients with clinically relevant arrhythmia detected by ILR, PM implantation was performed in 60 (34.7%), an intra-cardiac defibrillator in 5 (2.9%), and catheter ablation in 4 (2.3%). In a Cox regression analysis, history of paroxysmal atrial fibrillation (PAF) (hazard ratio [HR], 2.34; 95% confidence interval [CI], 1.33–4.12; P < 0.01) and any bundle branch block (BBB) (HR, 2.52; 95% CI, 1.09–5.85; P = 0.03) were significantly associated with PM implantation.@*CONCLUSION@#ILR is useful for detecting syncope-correlated arrhythmia in patients with US. The risk of PM is high in US patients with a history of PAF and any BBB.

2018 Korean Guidelines for Catheter Ablation of Atrial Fibrillation: Part II

In this part the writing group will cover strategies, techniques, and endpoints of atrial fibrillation (AF) ablation. Prior to all, electrical isolation of the pulmonary veins is recommended during all AF ablation procedures. In addition, techniques to be used for ablation of persistent and long-standing persistent AF, adjunctive ablation strategies, nonablative strategies to improve outcomes of AF ablation, and endpoints for ablation of paroxysmal, persistent, and long-standing persistent AF will be reviewed. Currently many technologies and tools are employed for AF ablation procedures. Radiofrequency energy, cryoablation, and other energy sources and tools are in various stages of development and/or clinical investigation. Finally, anticoagulation strategies pre-, during, and postcatheter ablation of AF and technical aspects of ablation to maximize safety are discussed in this section.

Efficacy and Safety Outcomes of Catheter Ablation of Non-valvular Atrial Fibrillation in Korean Practice: Analysis of Nationwide Claims Data

BACKGROUND AND OBJECTIVES: The aim of this study was to investigate the effectiveness and selected adverse events of radiofrequency catheter ablation in patients treated for drug-refractory atrial fibrillation (AF) using claims data provided by the Health Insurance Review and Assessment Service, which covers all ablation procedures conducted in South Korea. SUBJECTS AND METHODS: The study population included patients who underwent catheter ablation for AF between January 2011 and December 2013. A total of 3,850 patients without a previous history of catheter ablation procedure were enrolled. We analyzed 2-year effectiveness of the index ablation. Any redo ablation, electrical cardioversion, or use of antiarrhythmic drug beyond the blanking period of 3 months was considered a failure of index ablation. RESULTS: Overall recurrence rate following AF ablation was 61.1%. The recurrence rate was lower in patients under 65 years old than in those over 65 years old (hazard ratio [HR] 0.89; 95% confidence interval [CI], 0.81 to 0.97, P=0.009). Repeat ablation was more frequent in men (HR 1.56; 95% CI, 1.20 to 2.04; P=0.001) and patients under 65 years old (HR 1.79; 95% CI, 1.34 to 2.38; P < 0.001). Electric cardioversion was more frequent in men (HR 1.35; 95% CI, 1.06 to 1.72; P=0.014) than in women. The overall rate of stroke, blood transfusion, significant pericardial complication, and cardiopulmonary resuscitation was 0.5%, 4.8%, 2.7%, and 0.2%, respectively. CONCLUSIONS: In the present study, old age was associated with treatment failure of catheter ablation for drug-refractory AF in the Korean population. Overall recurrence did not vary with respect to sex.

Quality of Anticoagulation and Treatment Satisfaction in Patients with Non-Valvular Atrial Fibrillation Treated with Vitamin K Antagonist: Result from the KORean Atrial Fibrillation Investigation II

BACKGROUND: Vitamin K antagonist (VKA) to prevent thromboembolism in non-valvular atrial fibrillation (NVAF) patients has limitations such as drug interaction. This study investigated the clinical characteristics of Korean patients treated with VKA for stroke prevention and assessed quality of VKA therapy and treatment satisfaction. METHODS: We conducted a multicenter, prospective, non-interventional study. Patients with CHADS2 ≥ 1 and treated with VKA (started within the last 3 months) were enrolled from April 2013 to March 2014. Demographic and clinical features including risk factors of stroke and VKA treatment information was collected at baseline. Treatment patterns and international normalized ratio (INR) level were evaluated during follow-up. Time in therapeutic range (TTR) > 60% indicated well-controlled INR. Treatment satisfaction on the VKA use was measured by Treatment Satisfaction Questionnaire for Medication (TSQM) after 3 months of follow-up. RESULTS: A total of 877 patients (age, 67; male, 60%) were enrolled and followed up for one year. More than half of patients (56%) had CHADS2 ≥ 2 and 83.6% had CHA2DS2-VASc ≥ 2. A total of 852 patients had one or more INR measurement during their follow-up period. Among those patients, 25.5% discontinued VKA treatment during follow-up. Of all patients, 626 patients (73%) had poor-controlled INR (TTR < 60%) measure. Patients' treatment satisfaction measured with TSQM was 55.6 in global satisfaction domain. CONCLUSION: INR was poorly controlled in Korean NVAF patients treated with VKA. VKA users also showed low treatment satisfaction.

Detailed Electrode Catheter Positioning is Important for the Ablation of Outflow Tract Origin Ventricular Arrhythmias

BACKGROUND AND OBJECTIVES: Electroanatomical mapping using a three-dimensional (3D) system has high accuracy and improves the results of the ablation of outflow tract (OT) premature ventricular contraction (PVC) or ventricular tachycardia (VT) but imposes a considerable economic burden. Here, we compared detailed diagnostic catheterization and 3D mapping system for the ablation of OT PVC/VT. MATERIALS AND METHODS: Between June 2012 and February 2017, patients with symptomatic OT PVC/VT underwent radiofrequency ablation. Group 1 underwent detailed diagnostic catheterization (using circular and linear multielectrodes) without a 3D mapping system, while group 2 underwent diagnostic catheterization using a conventional 3D mapping system. Procedural success of PVC reduction, remaining symptoms, need for post-operative medications, and procedural time were evaluated. RESULTS: Ninety-eight OT PVC/VT cases were consecutively enrolled. The mean follow-up period was 17.7±14.5 months. Neither acute success rate (95% vs. 82%, p=0.06) nor a PVC reduction > 80% (84% vs. 87%, p=0.74) differed significantly between the two groups. The recurrence rates of PVC-related symptoms were similar (12% vs. 7%, p=0.06) between the groups, but the medication requirement for symptomatic PVC differed (12% vs. 29%, p < 0.01). The total procedure time of group 1 was shorter than that of group 2 (132±42 min vs. 157±47 min, p=0.01) and fluoroscopy time (24±15 min vs. 38±22 min, p < 0.01) and ablation time (528±538 sec vs. 899±598 sec, p < 0.01) were also significantly shortened. CONCLUSION: Detailed electrode catheter positioning is a safe and cost-effective method for the ablation of OT PVC/VT.

Underdevelopment of Left Atrial Appendage

A patient was admitted for catheter ablation of atrial fibrillation. Cardiac computed tomography and transesophageal echocardiography revealed the absence of the left atrial appendage. However, the right atrial appendage looked normal and the level of pro B-natriuretic peptide was within normal limits. Successful catheter ablation was performed without any procedural complications and the sinus rhythm was appropriately maintained for 10 months with an antiarrhythmic drug.

Endoscopic Electrosurgery in Patients with Cardiac Implantable Electronic Devices

BACKGROUND/AIMS: Patients with cardiac implantable electronic devices (CIEDs) undergoing endoscopic electrosurgery (EE) are at a risk of electromagnetic interference (EMI). We aimed to analyze the effects of EE in CIED patients. METHODS: Patients with CIED who underwent EE procedures such as snare polypectomy, endoscopic submucosal dissection (ESD), and endoscopic retrograde cholangiopancreatography (ERCP) with endoscopic sphincterotomy (EST) were retrospectively analyzed. Postprocedural symptoms as well as demographic and outpatient follow-up data were reviewed through medical records. Electrical data, including preprocedural and postprocedural arrhythmia records, were reviewed through pacemaker interrogation, 24-hour Holter monitoring, or electrocardiogram. RESULTS: Fifty-nine procedures in 49 patients were analyzed. Fifty procedures were performed in 43 patients with a pacemaker, and nine were performed in six patients with an implantable cardioverter-defibrillator. There were one gastric and 44 colon snare polypectomies, five gastric and one colon ESDs, and eight ERCPs with EST. Fifty-five cases of electrical follow-up were noted, with two postprocedural changes not caused by EE. Thirty-one pacemaker interrogations had procedure recordings, with two cases of asymptomatic tachycardia. All patients were asymptomatic with no adverse events. CONCLUSIONS: Our study reports no adverse events from EE in patients with CIED, suggesting that this procedure is safe. However, because of the possibility of EMI, recommendations on EE should be followed.

Complications of Cardiac Perforation and Lead Dislodgement with an MRI-Conditional Pacing Lead: a Korean Multi-Center Experience

Medtronic CapSureFix MRI 5086 pacing lead (5086; Medtronic, Inc., Minneapolis, MN, USA) has been reported to be associated with increased cardiac perforation and lead dislodgement. This study aimed to compare the incidence of cardiac perforation and lead dislodgement within 30 days after pacemaker implantation between 5086 MRI lead and previous Medtronic CapSureFix Novus 5076 non-MRI pacing lead. This was a nationwide, multicenter retrospective study in which we compared the incidence of adverse events between 277 patients implanted with 5086 lead and 205 patients implanted with 5076 lead between March 2009 and September 2014. Cardiac perforation within 30 days of pacemaker implantation occurred in 4 patients (1.4%) with the 5086 lead and in no patient with the 5076 lead (P = 0.084). Lead dislodgement occurred in 8 patients (2.9%) with the 5086 lead and in 5 patients (2.4%) with the 5076 lead (P = 0.764). On multivariate logistic regression analysis, age was significantly associated with cardiac perforation. Congestive heart failure and implantation of right atrial (RA) lead at RA free wall or septum were significant factors for the incidence of lead dislodgement and lead revision. The incidence of cardiac perforation and lead dislodgement were not statistically different between the patients with 5086 lead and the patients with 5076 lead. However, careful attention for cardiac perforation may be needed when using the 5086 MRI lead, especially in elderly patients.

Changes in Atrioventricular Node Physiology Following Slow Pathway Modification in Patients with AV Nodal Re-entrant Tachycardia: The Hypothetical Suggestion of Mechanism of Noninducibility of AVNRT

BACKGROUND AND OBJECTIVES: In cases of radiofrequency catheter ablation (RFCA) for patients with atrioventricular nodal re-entrant tachycardia (AVNRT), complete elimination of slow pathway is not always achievable. Furthermore, in situations of the so-called modified slow pathway, the underlying mechanism of tachycardia elimination remains unclear. SUBJECTS AND METHODS: Patients who underwent RFCA for AVNRT, and showed persistence of dual atrioventricular nodal physiology but no induction of AVNRT after ablation were enrolled. We measured electrophysiologic parameters before and after the ablation procedure. RESULTS: The study subjects included 31 patients (39% men; mean age 43±19 years). The RR interval, Wenckebach cycle length of AV node, slow pathway effective refractory period, maximal AH interval of fast pathway and slow pathway showed no significant changes before and after ablation. However, fast pathway effective refractory period (360±67 vs. 304±55, p<0.001) and differences between slow pathway effective refractory period and fast pathway effective refractory period (90±49 vs. 66±35, p=0.009) were decreased after slow pathway ablation. CONCLUSION: We suggest a possible relationship between the mechanism of tachycardia elimination in AVNRT and an alteration of the re-entrant circuit by removal of the atrial tissue in Koch's triangle. This may be a critical component of providing the excitable gap for the maintenance of tachycardia rather than the electrical damage of slow pathway itself.

Visualization of the Critical Isthmus by Tracking Delayed Potential in Edited Windows for Scar-Related Ventricular Tachycardia

BACKGROUND AND OBJECTIVES: Identifying the critical isthmus of slow conduction is crucial for successful treatment of scar-related ventricular tachycardia. Current 3D mapping is not designed for tracking the critical isthmus and may lead to a risk of extensive ablation. We edited the algorithm to track the delayed potential in order to visualize the isthmus and compared the edited map with a conventional map. SUBJECTS AND METHODS: We marked every point that showed delayed potential with blue color. After substrate mapping, we edited to reset the annotation from true ventricular potential to delayed potential and then changed the window of interest from the conventional zone (early, 50-60%; late, 40-50% from peak of QRS) to the edited zone (early, 80-90%; late, 10-20%) for every blue point. Finally, we compared the propagation maps before and after editing. RESULTS: We analyzed five scar-related ventricular tachycardia cases. In the propagation maps, the resetting map showed the critical isthmus and entrance and exit sites of tachycardia that showed figure 8 reentry. However, conventional maps only showed the earliest ventricular activation sites and searched for focal tachycardia. All of the tachycardia cases were terminated by ablating the area around the isthmus. CONCLUSION: Identifying the channel and direction of the critical isthmus by a new editing method to track delayed potential is essential in scar-related tachycardia.

Reversal of Pacing-Induced Cardiomyopathy by Normal QRS Axis Pacing

Right ventricular apical pacing has been a commonly used method for placement of permanent pacemaker, but it is known to be associated with ventricular dyssynchrony and may lead to heart failure. Septal pacing could be an alternative method to improve this complication but the results have been conflicting; hence, other strategies are needed. This case is about a patient with pacing-induced cardiomyopathy who showed much improvement after repositioning the leads to a site different from that of normally paced QRS axis.

Potential Risk Factors Associated With Vascular Diseases in Patients Receiving Treatment for Hypertension

BACKGROUND: Currently, the hypertension (HTN) patients undergo appropriate medical treatment, and traditional risk factors are highly controlled. Therefore, potential risk factors of atherosclerotic vascular diseases (AVD) and venous thromboembolisms (VTE) in HTN should be reconsidered. We investigated thrombophilic genetic mutations and existing biomarkers for AVD or VTE in HTN patients receiving treatment. METHODS: A total of 183 patients were enrolled: AVD with HTN (group A, n=45), VTE with HTN (group B, n=62), and HTN patients without any vascular diseases (group C, n=76). The lipid profile, homocysteine (Hcy) levels, D-dimers, fibrinogen, antithrombin, lupus anticoagulant, and anti-cardiolipin antibody (aCL) were evaluated. Prothrombin G20210A, Factor V G1691A, and methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C were analyzed. RESULTS: All patients revealed wild type prothrombin G20210A and Factor V G1691A polymorphisms. The frequency of MTHFR polymorphisms was 677CT (n=84, 45.9%); 677TT (n=46, 25.1%); 1298AC (n=46, 25.1%); and 1298CC (n=2, 1.1%). The MTHFR 677TT genotype tended to increase the odds ratio (OR) to AVD events in HTN patients (OR 2.648, confidence interval 0.982-7.143, P=0.05). The group A demonstrated significantly higher Hcy levels (P=0.009), fibrinogen (P=0.004), and platelet counts (P=0.04) than group C. Group B had significantly higher levels of D-dimers (P=0.0001), platelet count (P=0.0002), and aCL (P=0.02) frequency than group C. CONCLUSIONS: The MTHFR 677TT genotype and Hcy level could be potential risk factors associated with development of AVD in HTN patients receiving treatment. D-dimer and aCL might be useful to estimate the occurrence of VTE in them.