1.Sex-Specific Susceptibility Loci Associated With Coronary Artery Aneurysms in Patients With Kawasaki Disease
Jae-Jung KIM ; Young Mi HONG ; Sin Weon YUN ; Kyung-Yil LEE ; Kyung Lim YOON ; Myung-Ki HAN ; Gi Beom KIM ; Hong-Ryang KIL ; Min Seob SONG ; Hyoung Doo LEE ; Kee Soo HA ; Hyun Ok JUN ; Jeong Jin YU ; Gi Young JANG ; Jong-Keuk LEE ;
Korean Circulation Journal 2024;54(9):577-586
Background and Objectives:
Kawasaki disease (KD) is an acute vasculitis that primarily affects children under age 5 years. Approximately 20–25% of untreated children with KD and 3–5% of those treated with intravenous immunoglobulin therapy develop coronary artery aneurysms (CAAs). The prevalence of CAAs is much higher in male than in female patients with KD, but the underlying factors contributing to susceptibility to CAAs in patients with KD remain unclear. This study aimed to identify sex-specific susceptibility loci associated with CAAs in KD patients.
Methods:
A sex-stratified genome-wide association study (GWAS) was performed using previously obtained GWAS data from 296 KD patients and a new replication study in an independent set of 976 KD patients by comparing KD patients without CAA (controls) and KD patients with aneurysms (internal diameter ≥5 mm) (cases).
Results:
Six male-specific susceptibility loci, PDE1C, NOS3, DLG2, CPNE8, FUNDC1, and GABRQ (odds ratios [ORs], 2.25–9.98; p=0.00204–1.96×10−6 ), and 2 female-specific susceptibility loci, SMAD3 (OR, 4.59; p=0.00016) and IL1RAPL1 (OR, 4.35; p=0.00026), were significantly associated with CAAs in patients with KD. In addition, the numbers of CAA risk alleles additively contributed to the development of CAAs in patients with KD.
Conclusions
A sex-stratified GWAS identified 6 male-specific (PDE1C, NOS3, DLG2, CPNE8, FUNDC1, and GABRQ) and 2 female-specific (SMAD3 and IL1RAPL1) CAA susceptibility loci in patients with KD.
2.Sex-Specific Susceptibility Loci Associated With Coronary Artery Aneurysms in Patients With Kawasaki Disease
Jae-Jung KIM ; Young Mi HONG ; Sin Weon YUN ; Kyung-Yil LEE ; Kyung Lim YOON ; Myung-Ki HAN ; Gi Beom KIM ; Hong-Ryang KIL ; Min Seob SONG ; Hyoung Doo LEE ; Kee Soo HA ; Hyun Ok JUN ; Jeong Jin YU ; Gi Young JANG ; Jong-Keuk LEE ;
Korean Circulation Journal 2024;54(9):577-586
Background and Objectives:
Kawasaki disease (KD) is an acute vasculitis that primarily affects children under age 5 years. Approximately 20–25% of untreated children with KD and 3–5% of those treated with intravenous immunoglobulin therapy develop coronary artery aneurysms (CAAs). The prevalence of CAAs is much higher in male than in female patients with KD, but the underlying factors contributing to susceptibility to CAAs in patients with KD remain unclear. This study aimed to identify sex-specific susceptibility loci associated with CAAs in KD patients.
Methods:
A sex-stratified genome-wide association study (GWAS) was performed using previously obtained GWAS data from 296 KD patients and a new replication study in an independent set of 976 KD patients by comparing KD patients without CAA (controls) and KD patients with aneurysms (internal diameter ≥5 mm) (cases).
Results:
Six male-specific susceptibility loci, PDE1C, NOS3, DLG2, CPNE8, FUNDC1, and GABRQ (odds ratios [ORs], 2.25–9.98; p=0.00204–1.96×10−6 ), and 2 female-specific susceptibility loci, SMAD3 (OR, 4.59; p=0.00016) and IL1RAPL1 (OR, 4.35; p=0.00026), were significantly associated with CAAs in patients with KD. In addition, the numbers of CAA risk alleles additively contributed to the development of CAAs in patients with KD.
Conclusions
A sex-stratified GWAS identified 6 male-specific (PDE1C, NOS3, DLG2, CPNE8, FUNDC1, and GABRQ) and 2 female-specific (SMAD3 and IL1RAPL1) CAA susceptibility loci in patients with KD.
3.Sex-Specific Susceptibility Loci Associated With Coronary Artery Aneurysms in Patients With Kawasaki Disease
Jae-Jung KIM ; Young Mi HONG ; Sin Weon YUN ; Kyung-Yil LEE ; Kyung Lim YOON ; Myung-Ki HAN ; Gi Beom KIM ; Hong-Ryang KIL ; Min Seob SONG ; Hyoung Doo LEE ; Kee Soo HA ; Hyun Ok JUN ; Jeong Jin YU ; Gi Young JANG ; Jong-Keuk LEE ;
Korean Circulation Journal 2024;54(9):577-586
Background and Objectives:
Kawasaki disease (KD) is an acute vasculitis that primarily affects children under age 5 years. Approximately 20–25% of untreated children with KD and 3–5% of those treated with intravenous immunoglobulin therapy develop coronary artery aneurysms (CAAs). The prevalence of CAAs is much higher in male than in female patients with KD, but the underlying factors contributing to susceptibility to CAAs in patients with KD remain unclear. This study aimed to identify sex-specific susceptibility loci associated with CAAs in KD patients.
Methods:
A sex-stratified genome-wide association study (GWAS) was performed using previously obtained GWAS data from 296 KD patients and a new replication study in an independent set of 976 KD patients by comparing KD patients without CAA (controls) and KD patients with aneurysms (internal diameter ≥5 mm) (cases).
Results:
Six male-specific susceptibility loci, PDE1C, NOS3, DLG2, CPNE8, FUNDC1, and GABRQ (odds ratios [ORs], 2.25–9.98; p=0.00204–1.96×10−6 ), and 2 female-specific susceptibility loci, SMAD3 (OR, 4.59; p=0.00016) and IL1RAPL1 (OR, 4.35; p=0.00026), were significantly associated with CAAs in patients with KD. In addition, the numbers of CAA risk alleles additively contributed to the development of CAAs in patients with KD.
Conclusions
A sex-stratified GWAS identified 6 male-specific (PDE1C, NOS3, DLG2, CPNE8, FUNDC1, and GABRQ) and 2 female-specific (SMAD3 and IL1RAPL1) CAA susceptibility loci in patients with KD.
4.Sex-Specific Susceptibility Loci Associated With Coronary Artery Aneurysms in Patients With Kawasaki Disease
Jae-Jung KIM ; Young Mi HONG ; Sin Weon YUN ; Kyung-Yil LEE ; Kyung Lim YOON ; Myung-Ki HAN ; Gi Beom KIM ; Hong-Ryang KIL ; Min Seob SONG ; Hyoung Doo LEE ; Kee Soo HA ; Hyun Ok JUN ; Jeong Jin YU ; Gi Young JANG ; Jong-Keuk LEE ;
Korean Circulation Journal 2024;54(9):577-586
Background and Objectives:
Kawasaki disease (KD) is an acute vasculitis that primarily affects children under age 5 years. Approximately 20–25% of untreated children with KD and 3–5% of those treated with intravenous immunoglobulin therapy develop coronary artery aneurysms (CAAs). The prevalence of CAAs is much higher in male than in female patients with KD, but the underlying factors contributing to susceptibility to CAAs in patients with KD remain unclear. This study aimed to identify sex-specific susceptibility loci associated with CAAs in KD patients.
Methods:
A sex-stratified genome-wide association study (GWAS) was performed using previously obtained GWAS data from 296 KD patients and a new replication study in an independent set of 976 KD patients by comparing KD patients without CAA (controls) and KD patients with aneurysms (internal diameter ≥5 mm) (cases).
Results:
Six male-specific susceptibility loci, PDE1C, NOS3, DLG2, CPNE8, FUNDC1, and GABRQ (odds ratios [ORs], 2.25–9.98; p=0.00204–1.96×10−6 ), and 2 female-specific susceptibility loci, SMAD3 (OR, 4.59; p=0.00016) and IL1RAPL1 (OR, 4.35; p=0.00026), were significantly associated with CAAs in patients with KD. In addition, the numbers of CAA risk alleles additively contributed to the development of CAAs in patients with KD.
Conclusions
A sex-stratified GWAS identified 6 male-specific (PDE1C, NOS3, DLG2, CPNE8, FUNDC1, and GABRQ) and 2 female-specific (SMAD3 and IL1RAPL1) CAA susceptibility loci in patients with KD.
5.Consensus Document on Perioperative Antithrombotic Management: Part 2. Case Study
Yongwhi PARK ; Ae-Young HER ; Hyun Kuk KIM ; Jae Youn MOON ; Jae Hyoung PARK ; Keun-Ho PARK ; Kyung Hoon LEE ; Hyung Joon JOO ; Ho Yeon WON ; Sung Gyun AHN ; Hong Jun PARK ; Sung-Jin HONG ; Beom Joon KIM ; Seung Pil BAN ; Jung-Won SUH ; Young Bin SONG ; Jung Rae CHO ; Young-Hoon JEONG ; Weon KIM ; Eun-Seok SHIN ;
Korean Journal of Medicine 2022;97(4):204-228
Given the progressive improvements in antithrombotic strategies, management of cardiovascular disease has become sophisticated/refined. However, the optimal perioperative management of antithrombotic therapy in patients with acute coronary syndrome or who are scheduled for percutaneous coronary intervention remains unclear. Assessments of the thrombotic and hemorrhagic risks are essential to reduce the rates of mortality and major cardiac events. However, the existing guidelines do not mention these topics. This case-based consensus document deals with common clinical scenarios and offers evidence-based guidelines for individualized perioperative management of antithrombotic therapy in the real world.
6.Consensus Document on Perioperative Antithrombotic Management: Part 1. A Review
Yongwhi PARK ; Ae-Young HER ; Hyun Kuk KIM ; Jae Youn MOON ; Jae Hyoung PARK ; Keun-Ho PARK ; Kyung Hoon LEE ; Hyung Joon JOO ; Ho Yeon WON ; Sung Gyun AHN ; Hong Jun PARK ; Sung-Jin HONG ; Beom Joon KIM ; Seung Pil BAN ; Jung-Won SUH ; Young Bin SONG ; Jung Rae CHO ; Young-Hoon JEONG ; Weon KIM ; Eun-Seok SHIN ;
Korean Journal of Medicine 2022;97(3):150-163
The prevalence of ischemic heart disease is steadily growing as populations age. Antithrombotic treatment is a key therapeutic modality for the prevention of secondary cerebro-cardiovascular disease. Patients with acute coronary syndrome or who are undergoing percutaneous coronary intervention must be treated with dual antiplatelet therapy for a mandatory period. The optimal perioperative antithrombotic regimen remains debatable; antithrombotics can cause bleeding. Inadequate antithrombotic regimens are associated with perioperative ischemic events, but continuation of therapy may increase the risks of perioperative hemorrhagic complications (including mortality). Many guidelines on the perioperative management of antithrombotic agents have been established by academic societies. However, the existing guidelines do not cover all specialties, nor do they describe the thrombotic and hemorrhagic risks associated with various surgical interventions. Moreover, few practical recommendations on the modification of antithrombotic regimens in patients who require non-deferrable interventions/surgeries or procedures associated with a high risk of hemorrhage have appeared. Therefore, cardiologists, specialists performing invasive procedures, surgeons, dentists, and anesthesiologists have not come to a consensus on optimal perioperative antithrombotic regimens. The Korean Platelet-Thrombosis Research Group presented a positioning paper on perioperative antithrombotic management. We here discuss commonly encountered clinical scenarios and engage in evidence-based discussion to assist individualized, perioperative antithrombotic management in clinical practice.
7.Recurrent Cerebral Infarctions and Multi-Vessel Thrombosis in a Male Patient with Refractory Idiopathic Thrombocytopenic Purpura: a Case Report
Jong Weon LEE ; Hyoung Seop KIM
Brain & Neurorehabilitation 2021;14(2):e18-
Idiopathic thrombocytopenic purpura (ITP) mostly presents with bleeding tendencies, and thrombotic events are very uncommon. Our case report presents a male patient with ITP refractory to standardized therapies who continuously showed thrombocytopenia and hematuria. With no evidence of autoimmune diseases or other secondary causes of ITP, he developed recurrent cerebral infarctions and deep venous thrombosis. Our report calls for attention to possible thrombotic events, as well as more common bleeding tendencies in patients with ITP and outlines rehabilitation treatment specially designed for ITP patients with rare thrombotic complications.
8.Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing
Jae-Jung KIM ; Young Mi HONG ; Sin Weon YUN ; Kyung-Yil LEE ; Kyung Lim YOON ; Myung-Ki HAN ; Gi Beom KIM ; Hong-Ryang KIL ; Min Seob SONG ; Hyoung Doo LEE ; Kee Soo HA ; Hyun Ok JUN ; Byung-Ok CHOI ; Yeon-Mok OH ; Jeong Jin YU ; Gi Young JANG ; Jong-Keuk LEE ;
Genomics & Informatics 2021;19(4):e38-
Kawasaki disease (KD) is an acute pediatric vasculitis that affects genetically susceptible infants and children. To identify coding variants that influence susceptibility to KD, we conducted whole exome sequencing of 159 patients with KD and 902 controls, and performed a replication study in an independent 586 cases and 732 controls. We identified five rare coding variants in five genes (FCRLA, PTGER4, IL17F, CARD11, and SIGLEC10) associated with KD (odds ratio [OR], 1.18–4.41; p = 0.0027–0.031). We also performed association analysis in 26 KD patients with coronary artery aneurysms (CAAs; diameter > 5 mm) and 124 patients without CAAs (diameter < 3 mm), and identified another five rare coding variants in five genes (FGFR4, IL31RA, FNDC1, MMP8, and FOXN1), which may be associated with CAA (OR, 3.89–37.3; p = 0.0058–0.0261). These results provide insights into new candidate genes and genetic variants potentially involved in the development of KD and CAA.
9.Catheter ablation of atrial fibrillation in Korea: results from the Korean Heart Rhythm Society Ablation Registry for Atrial Fibrillation (KARA)
Euijae LEE ; Hyoung‑Seob PARK ; Seongwook HAN ; Gi‑Byung NAM ; Jong‑Il CHOI ; Hui‑Nam PAK ; Il‑Young OH ; Dong‑Gu SHIN ; Young Keun ON ; Sang Weon PARK ; Young‑Hoon KIM ; Seil OH ; On behalf of the KARA investigators
International Journal of Arrhythmia 2021;22(4):20-
Background:
This study aims to investigate the current status of AF (atrial fibrillation) catheter ablation in Korea.
Methods:
The patients who underwent AF catheter ablation from September 2017 to December 2019 were pro‑ spectively enrolled from 37 arrhythmia centers. Demographic data, procedural characteristics, the extent of catheter ablation, acute success of the ablation lesion set, rate and independent risk factor for recurrence of AF were analyzed.
Results:
A total of 2402 AF patients [paroxysmal AF (PAF) 45.7%, persistent AF (PeAF) 43.1% and redo AF 11.2%] were included. Pulmonary vein isolation (PVI) was performed in 2378 patients (99%) and acute success rate was 97.9%.Additional non-PV ablation (NPVA) were performed in 1648 patients (68.6%). Post-procedural complication rate was 2.2%. One-year AF-free survival rate was 78.6% and the PeAF patients showed poorer survival rate than the ones with other types (PeAF 72.4%, PAF 84.2%, redo AF 80.0%). Additional NPVA did not influence the recurrence of AF in the PAF patients (PVI 17.0% vs. NPVA 14.6%, P value 0.302). However, it showed lower AF recurrence rate in the PeAF patients (PVI 34.9% vs. NPVA 24.4%, P value 0.001). Valvular heart disease, left atrial diameter, PeAF, PVI alone, need of NPVA for terminating AF, and failed ablation were independent predictors of AF recurrence.
Conclusions
Additional NPVA was associated better rhythm outcome in the patients with PeAF, not in the ones with PAF. The independent risk factors for AF recurrence in Korean population were similar to previous studies. Further research is needed to discover optimal AF ablation strategy.
10.Reassessment of Inclusion Criteria in the 2013 the American College of Cardiology and the American Heart Association Cholesterol Guidelines for Cardiovascular Disease Prevention
Jong Weon LEE ; Hunsun LIM ; Jong Hun KIM ; Hyoung Seop KIM
Journal of Clinical Neurology 2021;17(1):86-95
Background:
and Purpose The American College of Cardiology and the American Heart Association (ACC-AHA) have released new guidelines and expanded indications for statin treatment. We aimed to reveal the clinical efficacy of each indication in the guidelines using a large-scale national cohort.
Methods:
We used National Health Screening Cohort data to determine the proportions of participants for whom statin therapy would be recommended using the different guidelines.We assessed the cumulative incidence rates of major adverse cardiovascular events (MACE) using the Cox proportional-hazards model.
Results:
Under the 2013 ACC-AHA guidelines, 111,600 participants were additionally eligible to receive statins, compared with 50,023 participants according to the Third Adult Treatment Panel (ATP-III). Most of the additional statin-eligible participants in the ACC-AHA guidelines were indicated by their 10-year cardiovascular disease risk. The increase in statineligible participants in the ACC-AHA guidelines mainly involved elderly patients aged 60–75 years. Among participants not requiring statin, participants who were eligible for a statin under the ACC-AHA guidelines had a significantly higher hazard ratio of MACE when compared with those eligible under the ATP-III guidelines. Among the not-recommended groups, patients with diabetes and low-density lipoprotein <70 mg/dL constituted the group with the highest risk of MACE.
Conclusions
The 2013 ACC-AHA guidelines increase the number of statin-eligible participants, especially among the elderly. These guidelines provide a stronger recommendation for statins to high-risk groups, but it remains necessary to consider the characteristics of the population in the risk equation. In addition, the aggressive use of statin in diabetes patients and further studies of older subjects are needed.

Result Analysis
Print
Save
E-mail