Background: Hypertrophic cardiomyopathy (HCM) needs careful differentiation from other cardiomyopathies. Current guidelines recommend genetic testing, but genetic data on differential diagnoses and their relation with clinical outcomes in HCM are still lacking.This study aimed to investigate the prevalence of genetic variants and the proportion of other cardiomyopathies in patients with suspected HCM in Korea and compare the outcomes of HCM according to the presence of sarcomere gene mutation. Methods: We enrolled 1,554 patients with suspected HCM having left ventricular hypertrophy on transthoracic echocardiography between April 2012 and February 2023. Patients who declined genetic testing or who had pure apical HCM without a familial history were excluded. Genetic testing was performed using a next-generation sequencing panel or wholeexome sequencing for cardiomyopathies. We performed cardiovascular magnetic resonance if the diagnosis was inconclusive. Genotype-positive HCM was defined as sarcomere gene mutations of pathogenic or likely pathogenic variants. Adverse clinical outcomes were defined as a composite of all-cause death, resuscitated cardiac arrest, heart failure-related admission, appropriate implantable cardioverter defibrillator shocks, and stroke. Results: Of 492 patients (mean age 49.6 ± 14.7 years, 29.4% women) who underwent genetic testing, 214 (43.5%) had disease-causing gene mutations. After combining gene tests, multi-imaging modality, and clinical information, 447 (90.9%) had HCM, and 27 (5.5%) had Fabry disease. Among the HCM patients, 182 (40.7%) were genotype-positive, and 265 (59.3%) were genotype-negative. Kaplan–Meier curve analysis showed that genotype-positive HCM patients experienced more composite outcomes (log-rank, P < 0.001). In multivariable Cox analysis, non-sustained ventricular tachycardia (NSVT) (hazard ratio [HR], 1.91; 95% confidence interval [CI], 1.17–3.12; P = 0.010), left ventricular ejection fraction (LVEF) < 50% (HR, 5.50; 95% CI, 2.68–11.27; P < 0.001), LA reservoir strain (HR, 0.96; 95% CI, 0.93–0.99;P = 0.037), and positive sarcomere gene mutation (HR, 1.70; 95% CI, 1.04–2.78; P = 0.034) were significantly association with composite outcomes. Sarcomere gene mutation had incremental value for predicting adverse outcomes added on NSVT and LVEF < 50%. Conclusion Genetic testing is helpful in diagnosing HCM, and sarcomere gene mutations in HCM are significantly associated with clinical outcomes.

Background: Hypertrophic cardiomyopathy (HCM) needs careful differentiation from other cardiomyopathies. Current guidelines recommend genetic testing, but genetic data on differential diagnoses and their relation with clinical outcomes in HCM are still lacking.This study aimed to investigate the prevalence of genetic variants and the proportion of other cardiomyopathies in patients with suspected HCM in Korea and compare the outcomes of HCM according to the presence of sarcomere gene mutation. Methods: We enrolled 1,554 patients with suspected HCM having left ventricular hypertrophy on transthoracic echocardiography between April 2012 and February 2023. Patients who declined genetic testing or who had pure apical HCM without a familial history were excluded. Genetic testing was performed using a next-generation sequencing panel or wholeexome sequencing for cardiomyopathies. We performed cardiovascular magnetic resonance if the diagnosis was inconclusive. Genotype-positive HCM was defined as sarcomere gene mutations of pathogenic or likely pathogenic variants. Adverse clinical outcomes were defined as a composite of all-cause death, resuscitated cardiac arrest, heart failure-related admission, appropriate implantable cardioverter defibrillator shocks, and stroke. Results: Of 492 patients (mean age 49.6 ± 14.7 years, 29.4% women) who underwent genetic testing, 214 (43.5%) had disease-causing gene mutations. After combining gene tests, multi-imaging modality, and clinical information, 447 (90.9%) had HCM, and 27 (5.5%) had Fabry disease. Among the HCM patients, 182 (40.7%) were genotype-positive, and 265 (59.3%) were genotype-negative. Kaplan–Meier curve analysis showed that genotype-positive HCM patients experienced more composite outcomes (log-rank, P < 0.001). In multivariable Cox analysis, non-sustained ventricular tachycardia (NSVT) (hazard ratio [HR], 1.91; 95% confidence interval [CI], 1.17–3.12; P = 0.010), left ventricular ejection fraction (LVEF) < 50% (HR, 5.50; 95% CI, 2.68–11.27; P < 0.001), LA reservoir strain (HR, 0.96; 95% CI, 0.93–0.99;P = 0.037), and positive sarcomere gene mutation (HR, 1.70; 95% CI, 1.04–2.78; P = 0.034) were significantly association with composite outcomes. Sarcomere gene mutation had incremental value for predicting adverse outcomes added on NSVT and LVEF < 50%. Conclusion Genetic testing is helpful in diagnosing HCM, and sarcomere gene mutations in HCM are significantly associated with clinical outcomes.

Background: Hypertrophic cardiomyopathy (HCM) needs careful differentiation from other cardiomyopathies. Current guidelines recommend genetic testing, but genetic data on differential diagnoses and their relation with clinical outcomes in HCM are still lacking.This study aimed to investigate the prevalence of genetic variants and the proportion of other cardiomyopathies in patients with suspected HCM in Korea and compare the outcomes of HCM according to the presence of sarcomere gene mutation. Methods: We enrolled 1,554 patients with suspected HCM having left ventricular hypertrophy on transthoracic echocardiography between April 2012 and February 2023. Patients who declined genetic testing or who had pure apical HCM without a familial history were excluded. Genetic testing was performed using a next-generation sequencing panel or wholeexome sequencing for cardiomyopathies. We performed cardiovascular magnetic resonance if the diagnosis was inconclusive. Genotype-positive HCM was defined as sarcomere gene mutations of pathogenic or likely pathogenic variants. Adverse clinical outcomes were defined as a composite of all-cause death, resuscitated cardiac arrest, heart failure-related admission, appropriate implantable cardioverter defibrillator shocks, and stroke. Results: Of 492 patients (mean age 49.6 ± 14.7 years, 29.4% women) who underwent genetic testing, 214 (43.5%) had disease-causing gene mutations. After combining gene tests, multi-imaging modality, and clinical information, 447 (90.9%) had HCM, and 27 (5.5%) had Fabry disease. Among the HCM patients, 182 (40.7%) were genotype-positive, and 265 (59.3%) were genotype-negative. Kaplan–Meier curve analysis showed that genotype-positive HCM patients experienced more composite outcomes (log-rank, P < 0.001). In multivariable Cox analysis, non-sustained ventricular tachycardia (NSVT) (hazard ratio [HR], 1.91; 95% confidence interval [CI], 1.17–3.12; P = 0.010), left ventricular ejection fraction (LVEF) < 50% (HR, 5.50; 95% CI, 2.68–11.27; P < 0.001), LA reservoir strain (HR, 0.96; 95% CI, 0.93–0.99;P = 0.037), and positive sarcomere gene mutation (HR, 1.70; 95% CI, 1.04–2.78; P = 0.034) were significantly association with composite outcomes. Sarcomere gene mutation had incremental value for predicting adverse outcomes added on NSVT and LVEF < 50%. Conclusion Genetic testing is helpful in diagnosing HCM, and sarcomere gene mutations in HCM are significantly associated with clinical outcomes.

Background: Hypertrophic cardiomyopathy (HCM) needs careful differentiation from other cardiomyopathies. Current guidelines recommend genetic testing, but genetic data on differential diagnoses and their relation with clinical outcomes in HCM are still lacking.This study aimed to investigate the prevalence of genetic variants and the proportion of other cardiomyopathies in patients with suspected HCM in Korea and compare the outcomes of HCM according to the presence of sarcomere gene mutation. Methods: We enrolled 1,554 patients with suspected HCM having left ventricular hypertrophy on transthoracic echocardiography between April 2012 and February 2023. Patients who declined genetic testing or who had pure apical HCM without a familial history were excluded. Genetic testing was performed using a next-generation sequencing panel or wholeexome sequencing for cardiomyopathies. We performed cardiovascular magnetic resonance if the diagnosis was inconclusive. Genotype-positive HCM was defined as sarcomere gene mutations of pathogenic or likely pathogenic variants. Adverse clinical outcomes were defined as a composite of all-cause death, resuscitated cardiac arrest, heart failure-related admission, appropriate implantable cardioverter defibrillator shocks, and stroke. Results: Of 492 patients (mean age 49.6 ± 14.7 years, 29.4% women) who underwent genetic testing, 214 (43.5%) had disease-causing gene mutations. After combining gene tests, multi-imaging modality, and clinical information, 447 (90.9%) had HCM, and 27 (5.5%) had Fabry disease. Among the HCM patients, 182 (40.7%) were genotype-positive, and 265 (59.3%) were genotype-negative. Kaplan–Meier curve analysis showed that genotype-positive HCM patients experienced more composite outcomes (log-rank, P < 0.001). In multivariable Cox analysis, non-sustained ventricular tachycardia (NSVT) (hazard ratio [HR], 1.91; 95% confidence interval [CI], 1.17–3.12; P = 0.010), left ventricular ejection fraction (LVEF) < 50% (HR, 5.50; 95% CI, 2.68–11.27; P < 0.001), LA reservoir strain (HR, 0.96; 95% CI, 0.93–0.99;P = 0.037), and positive sarcomere gene mutation (HR, 1.70; 95% CI, 1.04–2.78; P = 0.034) were significantly association with composite outcomes. Sarcomere gene mutation had incremental value for predicting adverse outcomes added on NSVT and LVEF < 50%. Conclusion Genetic testing is helpful in diagnosing HCM, and sarcomere gene mutations in HCM are significantly associated with clinical outcomes.

Background: The rapid economic development of South Korea provides a unique model to study changes in the clinical characteristics, treatment approaches, and clinical outcomes of patients with rheumatic mitral stenosis (MS) relative to socioeconomic growth. Methods: From the Multicenter mitrAl STEnosis with Rheumatic etiology (MASTER) registry, 2,337 patients diagnosed with moderate or severe rheumatic MS between January 2001 and December 2020 were analyzed. Patients were grouped into consecutive 5-year intervals based on their year of diagnosis. Clinical characteristics, echocardiographic data, and clinical outcomes were assessed. Results: Over 20 years, the severity of mitral stenosis increased from 79.1% to 90.2%; similarly, the average age at diagnosis increased from 54.3 to 63.0 years (all P < 0.001). Comorbidities such as hypertension and atrial fibrillation increased (6.3% to 29.5% and 41.4% to 46.9%, respectively; all P for trend < 0.05). The rate of mitral intervention within five years after diagnosis increased from 31.2% to 47.4% (P for trend < 0.001). However, clinical outcomes of rheumatic mitral stenosis deteriorated over time in the composite outcomes (log-rank test, P < 0.001). Conversely, the incidence of stroke remained stable (60.6–73.7%; P < 0.001), which might be attributed to the increased use of anticoagulation therapy. Conclusion This study observed an increase in patient age, comorbidities, and valve disease severity as the country transitioned from a developing to developed status. Despite a rise in mitral valve interventions, clinical outcomes deteriorated over 20 years, highlighting the need for modified treatment approaches to improve patient outcomes.

Background and Objectives: Evidence regarding the efficacy and safety of intracardiac echocardiography (ICE) for guidance during transcatheter aortic valve replacement (TAVR) is limited. This study aimed to compare the clinical efficacy and safety of ICE versus transesophageal echocardiography (TEE) for guiding TAVR. Methods: This prospective cohort study included patients who underwent TAVR from August 18, 2015, to June 31, 2021. Eligible patients were stratified by echocardiographic modality (ICE or TEE) and anesthesia mode (monitored anesthesia care [MAC] or general anesthesia [GA]). Primary outcome was the 1-year composite of all-cause mortality, rehospitalization for cardiovascular cause, or stroke, according to the Valve Academic Research Consortium-3 (VARC-3) definition. Propensity score matching was performed, and study outcomes were analyzed for the matched cohorts. Results: Of the 359 eligible patients, 120 patients were matched for the ICE-MAC and TEEGA groups, respectively. The incidence of primary outcome was similar between matched groups (18.3% vs. 20.0%; adjusted hazard ratio, 0.94; 95% confidence interval [CI], 0.53– 1.68; p=0.843). ICE-MAC and TEE-GA also had similar incidences of moderate-to-severe paravalvular regurgitation (PVR) (4.2% vs. 5.0%; adjusted odds ratio, 0.83; 95% CI, 0.23– 2.82; p=0.758), new permanent pacemaker implantation, and VARC-3 types 2–4 bleeding. Conclusions ICE was comparable to TEE for guidance during TAVR for the composite clinical efficacy outcome, with similar incidences of moderate-to-severe PVR, new permanent pacemaker implantation, and major bleeding. These results suggest that ICE could be a safe and effective alternative echocardiographic modality to TEE for guiding TAVR.

Background and Objectives: Aortic valve replacement (AVR) is considered a class I indication for symptomatic severe aortic stenosis (AS). However, there is little evidence regarding the potential benefits of early AVR in symptomatic patients diagnosed with normal-flow, low-gradient (NFLG) severe AS. Methods: Two-hundred eighty-one patients diagnosed with symptomatic NFLG severe AS (stroke volume index ≥35 mL/m 2 , mean transaortic pressure gradient <40 mmHg, peak transaortic velocity <4 m/s, and aortic valve area <1.0 cm 2 ) between January 2010 and December 2020 were included in this retrospective study. After performing 1:1 propensity score matching, 121 patients aged 75.1±9.8 years (including 63 women) who underwent early AVR within 3 months after index echocardiography, were compared with 121 patients who received conservative care. The primary outcome was a composite of all-cause death and heart failure (HF) hospitalization. Results: During a median follow-up of 21.9 months, 48 primary outcomes (18 in the early AVR group and 30 in the conservative care group) occurred. The early AVR group demonstrated a significantly lower incidence of primary outcomes (hazard ratio [HR], 0.52; 95% confidence interval [CI], 0.29–0.93; p=0.028); specifically, there was no significant difference in all-cause death (HR, 0.51; 95% CI, 0.23–1.16; p=0.110), although the early AVR group showed a significantly lower incidence of hospitalization for HF (HR, 0.43; 95% CI, 0.19–0.95, p=0.037). Subgroup analyses supported the main findings. Conclusions An early AVR strategy may be beneficial in reducing the risk of a composite outcome of death or hospitalization for HF in symptomatic patients with NFLG severe AS.Future randomized studies are required to validate and confirm our findings.

Purpose: The fusion of early (E) and late diastolic filling (A) on mitral inflow Doppler, even in the absence of tachycardia, is often found during assessment of left ventricular (LV) diastolic function. We evaluated the echocardiographic characteristics and clinical implications of premature E-A fusion of uncertain cause in the absence of tachycardia. Materials and Methods: We identified 1014 subjects who showed E-A fusion and normal LV ejection fraction (LVEF) between January 2019 and June 2021 at two tertiary hospitals. Among these, 105 (10.4%) subjects showed premature E-A fusion at heart rates less than 100 beats per minute (bpm). The conventional echocardiographic parameters and LV global longitudinal strain (GLS) were compared with 1:1 age-, sex-, and heart rate-matched controls without E-A fusion. Results: The premature E-A fusion group had a heart rate of 96.4±3.7 bpm. Only 4 (3.8%) subjects were classified as having LV diastolic dysfunction according to current guidelines. The group showed prolonged isovolumic relaxation time (107.2±25.3 msec vs. 61.6±15.6 msec, p<0.001), increased Tei index (0.76±0.19 vs. 0.48±0.10, p<0.001), lower LVEF (63.8±7.0% vs. 67.3±5.6%, p<0.001) and lower absolute LV GLS (|LV GLS|) (17.0±4.2% vs. 19.7±3.3%, p<0.001) than controls. As the E-A fusion occurred at lower heart rate, the |LV GLS| was also lower (p for trend=0.002). Conclusion Premature E-A fusion at heart rates less than 100 bpm is associated with subclinical LV dysfunction. Time-based indices and LV GLS are helpful for evaluating this easily overlooked population.

OBJECTIVE: The aim of this study was to validate the Glasgow-Blatchford score (GBS), Pre-Rockall score (PRS), and AIMS65 score to predict active bleeding in patients with normotension and upper gastrointestinal bleeding (UGIB), and analyze the variables that can predict active bleeding to help develop new predictive factors. METHODS: Data were collected retrospectively from January 2015 to December 2017. A systolic blood pressure ≥90 mmHg were defined as normotension, and the patients were divided into active bleeding and not-active bleeding groups based on an esophagogastroduodenoscopy and levin-tube irrigation. The GBS, PRS, and AIMS65 of each group were calculated. The receiver operator characteristic (ROC) curve and area under the curve (AUC) were also calculated to obtain the predictive power for active bleeding. Furthermore, the factors that can predict active bleeding were analyzed by multivariate logistic regression. The ROC curve and AUC were calculated using the variables that were adopted as useful factors. RESULTS: Of the 250 patients included, 85 were active bleeding and 165 were not-active bleeding. The ROC curve showed GBS (AUC, 0.54; 95% confidence interval [CI], 0.47–0.61), PRS (AUC, 0.58; 95% CI, 0.50–0.65), and AIMS65 (AUC, 0.51; 95% CI, 0.43–0.59) to have low predictive power for active bleeding. Multivariate logistic regression revealed the lactate (odds ratio [OR], 1.10; 95% CI, 1.01–1.20) and shock indices (OR, 4.15; 95% CI, 1.12–15.40) to be significant predictors of active bleeding. When calculating the probability of predicting active bleeding through these variables, AUC 0.64 (95% CI, 0.57–0.71) showed higher prediction power than the previous scores. CONCLUSION: The conventional scoring systems that predict the prognosis of UGIB showed low predictability in predicting active bleeding in UGIB patients with a systolic blood pressure ≥90 mmHg. Further study suggests the development of new score using factors, such as the lactate and shock indices.
Area Under Curve ; Blood Pressure ; Emergency Medicine ; Endoscopy, Digestive System ; Gastrointestinal Hemorrhage ; Hemorrhage ; Humans ; Lactic Acid ; Logistic Models ; Prognosis ; Retrospective Studies ; ROC Curve ; Shock