Background:Characterising treatment patterns and costs is essential for understanding healthcare utilisation and informing cost management. We aimed to assess these aspects among hospitalised patients with cardiomyopathy. Methods:We conducted a multicentre study at 11 tertiary hospitals across China, systematically extracting electronic medical records from 2017 to 2022. Factors associated with medical costs were analysed using generalised linear regression with cluster-robust standard errors. Findings:Among 15,764 medical records of adult inpatients with cardiomyopathy, medical therapy alone (81.5%; 12,853/15,764) was the most common treatment pattern. The mean direct medical cost per hospitalisation for all admissions was $6294 ($11,564) and the median cost was $2152 (IQR $1248, $4931), with variation across cardiomyopathy subtypes. Admissions to the national centre (Exp(β) 1.529 [95% confidence interval 1.242-1.882]), New York Heart Association functional class III/IV (Exp(β) 1.371 [1.169-1.608]), and combination therapies (vs. medical therapy alone: medical and interventional Exp(β) 6.685 [5.098-8.766]; medical and surgical 7.537 [6.213-9.143]; all three 10.718 [7.579-15.157]) were associated with higher costs, whereas insurance coverage (Exp(β) 0.773 [0.642-0.932]) was associated with lower costs. Interpretation:This study provides evidence on inpatient medical costs and their associated factors, serving as a reference for understanding the real-world cost profile and informing cost management of cardiomyopathy in tertiary healthcare settings. Funding:The Noncommunicable Chronic Diseases-National Science and Technology Major Project, the Chinese Academy of Medical Sciences (CAMS) Innovation Fund for Medical Sciences, the National High Level Hospital Clinical Research Funding, and the Science and Technology Department of Heilongjiang Province.

BACKGROUND:The 6-minute walk test (6MWT) is a practical and cost-effective measure of functional capacity in cardiovascular diseases, yet its prognostic utility in hypertrophic cardiomyopathy (HCM) remains unknown. In this study we aimed to evaluate the prognostic value of the 6MWT and compare it with cardiopulmonary exercise testing (CPET) in HCM. METHODS:A total of 496 patients with HCM who underwent both 6MWT and CPET were included in this study. The endpoint was major adverse cardiovascular events (MACEs). RESULTS:During a median follow-up of 2.7 years, 38 patients developed MACEs. The 6MWT distance was an independent prognostic factor for MACEs in HCM (per 100-m decrease, adjusted hazard ratio [HR] 1.646, P = 0.006), and it correlated significantly with CPET parameters such as peak oxygen consumption (V˙O2; r = 0.328, P < 0.001). The ability of the 6MWT distance to predict MACEs was comparable with peak V˙O2 (C-statistic = 0.643 vs 0.616), with 423 m identified as the optimal cutoff value. Adding the 6MWT distance to the adjusted Cox model significantly improved predictive performance (C-statistic = 0.791 vs 0.731, P = 0.038), whereas adding peak V˙O2 did not (C-statistic = 0.754 vs 0.731, P = 0.346). The 6MWT distance remained an independent predictor of MACEs in patients at increased risk of adverse events during CPET (per 100-m decrease, adjusted HR 1.848, P = 0.037). CONCLUSIONS:The 6MWT serves as a practical and cost-effective alternative to CPET for risk stratification in HCM, particularly when CPET is unavailable or poses risks.

Abstract Aims Risk assessment for triple-vessel disease (TVD) remain challenging. Stress hyperglycemia represents the regulation of glucose metabolism in response to stress, and stress hyperglycemia ratio (SHR) is recently found to reflect true acute hyperglycemic status. This study aimed to evaluate the prognostic value of SHR and its role in risk stratification in TVD patients with acute coronary syndrome (ACS). Methods A total of 3812 TVD patients with ACS with available baseline SHR measurement were enrolled from two independent centers. The endpoint was cardiovascular mortality. Cox regression was used to evaluate the association between SHR and cardiovascular mortality. The SYNTAX (Synergy Between Percutaneous Coronary Intervention With Taxus and Cardiac Surgery) II (SSII) was used as the reference model in the model improvement analysis. Results During a median follow-up of 5.1 years, 219 (5.8%) TVD patients with ACS suffered cardiovascular mortality. TVD patients with ACS with high SHR had an increased risk of cardiovascular mortality after robust adjustment for confounding (high vs. median SHR: adjusted hazard ratio 1.809, 95% confidence interval 1.160–2.822, P = 0.009), which was fitted as a J-shaped pattern. The prognostic value of the SHR was found exclusively among patients with diabetes instead of those without diabetes. Moreover, addition of SHR improved the reclassification abilities of the SSII model for predicting cardiovascular mortality in TVD patients with ACS. Conclusions The high level of SHR is associated with the long-term risk of cardiovascular mortality in TVD patients with ACS, and is confirmed to have incremental prediction value beyond standard SSII. Assessment of SHR may help to improve the risk stratification strategy in TVD patients who are under acute stress.

BACKGROUND Hypertrophic cardiomyopathy (HCM) with tachyarrhythmias has been extensively studied in recent years. The characteristics of primary bradycardia in HCM remain largely unknown. OBJECTIVE This study aimed to comprehensively investigate the prevalence, clinical features, and prognosis of primary bradycardia in patients with HCM in a large cohort. METHODS A total of 1055 HCM patients with electrocardiogram results were recruited by Fuwai Hospital between 1999 and 2019. The study end points were all-cause death, cardiovascular death, and heart failure (HF)-related death. RESULTS The final analysis included 1003 HCM patients, of whom 86 were identified as having primary bradycardia. Of those, 54 patients had sinus node dysfunction (SND) and 43 patients had atrioventricular block (AVB); 11 patients had both SND and AVB. Fibrosis was more severe in patients with primary bradycardia in HCM, and the patterns of fibrosis were different. Median follow-up was 6.8 years. SND only and AVB only were significantly associated with an increased risk of all-cause death (SND only: adjusted hazard ratio [aHR], 2.219, P = .012; AVB only: aHR, 2.425, P = .007), cardiovascular death (SND only: aHR, 2.737, P = .019; AVB only: aHR, 3.853, P < .001), and HF-related death (SND only: aHR, 4.217, P = .027; AVB only: aHR, 9.367, P < .001). The coexistence of SND and AVB was associated with an even worse prognosis than with SND or AVB alone. CONCLUSION Primary bradycardia, including SND and AVB, independently increases the risk of all-cause death, cardiovascular death, and HF-related death in patients with HCM. Our study provides an important reference for understanding the full picture of HCM patients with primary bradycardia.

AIM:Our study aimed to investigate the correlation between glycated hemoglobin (HbA1c) and adverse prognostic events in patients with diabetes and triple-vessel coronary disease (TVD). METHODS:This study ultimately included 2051 patients with TVD and diabetes. Patients were categorized into five groups based on their HbA1c levels: < 6.0 %, 6.0-6.4 %, 6.5-6.9 %, 7.0-7.9 %, and ≥ 8.0 %. The primary endpoint was all-cause death, and the secondary endpoint was major adverse cardiovascular and cerebrovascular events (MACCE). RESULTS:The median follow-up time was 5.88 years. During this period, a total of 323 (15.7 %) all-cause deaths and 537 (26.2 %) MACCEs were recorded. The relationship between HbA1c and the risk of endpoint events showed a J-shaped pattern, with the lowest risk observed between 6.0 % and 6.4 %. Further analysis revealed a significant interaction between HbA1c and age. In the subgroup with age < 70 years, as HbA1c increased, the risk of endpoint events gradually rose. While in the subgroup with age ≥70 years, there was an L-shaped relationship between HbA1c and endpoint events, with the highest risk observed in patients with HbA1c < 6.0 %. CONCLUSION:Our study revealed variations in the relationship between HbA1c levels and endpoint events among patients with TVD and diabetes of different ages. In younger patients, elevated HbA1c levels were associated with a higher risk of death and MACCE, while in older patients, excessively low HbA1c levels (HbA1c < 6 %) were linked to a higher risk of death and MACCE.

Aim: The information assessing sex differences in outcomes of patients with three-vessel coronary disease (TVD) after different treatment strategies is sparse. This study aimed to investigate long-term outcomes of TVD among women compared with men after medical therapy (MT) alone, percutaneous coronary intervention (PCI), or coronary artery bypass grafting surgery (CABG). Methods: Consecutive 8943 patients with TVD were enrolled. Associations between sex and all-cause death and major adverse cardiac and cerebrovascular events (MACCE) (all-cause death, myocardial infarction, or stroke) were assessed. Results: Of the 8943 patients, 1821 (20.4%) were women. During a median follow-up of 6.6 years, women had comparable incidences of all-cause death (16.6% vs. 14.9%, P = 0.079) and MACCE (27.2% vs. 26.1%, P = 0.320) to men. After multivariable analysis, women showed lower adjusted risks of all-cause death (HR: 0.777; P = 0.001) and MACCE (HR: 0.870; P = 0.016) than men in the entire cohort. Subgroup analysis revealed that the less all-cause death risk of women relative to men was significant in PCI (HR: 0.702; P = 0.009), and CABG groups (HR: 0.708; P = 0.047), but not in MT alone group. Lower MACCE risk for women vs. men was significant only in PCI group (HR: 0.821; P = 0.037). However, no significant interaction between sex and three strategies was observed for all-cause death (P for interaction = 0.312) or MACCE (P for interaction = 0.228). Conclusions: The cardiovascular prognosis of TVD female patients is better than that of men, which has no interaction with the treatment strategies received (MT alone, PCI, or CABG).

BACKGROUND:Risk assessment and treatment stratification for three-vessel coronary disease (TVD) remain challenging. This study aimed to investigate the prognostic value of left atrial volume index (LAVI) with the Synergy Between Percutaneous Coronary Intervention with Taxus and Cardiac Surgery (SYNTAX) score II, and its association with the long-term prognosis after three strategies (percutaneous coronary intervention [PCI], coronary artery bypass grafting [CABG], and medical therapy [MT]) in patients with TVD.METHODS:This study was a post hoc analysis of a large, prospective cohort of patients with TVD in China, that aimed to determine the long-term outcomes after PCI, CABG, or optimal MT alone. A total of 8943 patients with TVD were consecutively enrolled between 2004 and 2011 at Fuwai Hospital. A total of 7818 patients with available baseline LAVI data were included in the study. Baseline, procedural, and follow-up data were collected. The primary endpoint was major adverse cardiac and cerebrovascular events (MACCE), which was a composite of all-cause death, myocardial infarction (MI), and stroke. Secondary endpoints included all-cause death, cardiac death, MI, revascularization, and stroke. Long-term outcomes were evaluated among LAVI quartile groups.RESULTS:During a median follow-up of 6.6 years, a higher LAVI was strongly associated with increased risk of MACCE (Q3: hazard ratio [HR] 1.20, 95% confidence interval [CI] 1.06-1.37, P = 0.005; Q4: HR 1.85, 95%CI 1.64-2.09, P <0.001), all-cause death (Q3: HR 1.41, 95% CI 1.17-1.69, P <0.001; Q4: HR 2.54, 95%CI 2.16-3.00, P <0.001), and cardiac death (Q3: HR 1.81, 95% CI 1.39-2.37, P <0.001; Q4: HR 3.47, 95%CI 2.71-4.43, P <0.001). Moreover, LAVI significantly improved discrimination and reclassification of the SYNTAX score II. Notably, there was a significant interaction between LAVI quartiles and treatment strategies for MACCE. CABG was associated with lower risk of MACCE than MT alone, regardless of LAVI quartiles. Among patients in the fourth quartile, PCI was associated with significantly increased risk of cardiac death compared with CABG (HR: 5.25, 95% CI: 1.97-14.03, P = 0.001).CONCLUSIONS:LAVI is a potential index for risk stratification and therapeutic decision-making in patients with three-vessel coronary disease. CABG is associated with improved long-term outcomes compared with MT alone, regardless of LAVI quartiles. When LAVI is severely elevated, PCI is associated with higher risk of cardiac death than CABG.

BACKGROUND An appropriate indicator of cardiac function in the risk stratification of hypertrophic cardiomyopathy (HCM) patients is urgently needed. Cardiac index that reflects cardiac pumping func-tion may be suitable.OBJECTIVE The purpose of this study was to investigate the clinical significance of reduced cardiac index in HCM patients.METHODS A total of 927 HCM patients were enrolled. The primary endpoint was cardiovascular death. The secondary endpoints were sudden cardiac death (SCD) and all-cause death. Combination models were constructed by adding reduced cardiac index and reduced left ventricular ejection fraction (LVEF) to the HCM risk- SCD model. Predictive accuracy was determined by C-statistics.RESULTS Reduced cardiac index was defined as cardiac index <2.42 L/min/m2. During median follow-up of 4.3 years, 51 patients reached the endpoint. Reduced cardiac index independently increased the risk of cardiovascular death (adjusted hazard ratio [aHR] 2.976; P = .007), SCD (aHR 6.385; P = .001), and all-cause death (aHR 2.428; P = .010). By adding reduced cardiac index to the HCM risk-SCD model, the model C-statistic increased from 0.691 to 0.762, with an integrated discrimination improve- ment of 0.021 (P = .018) and a net reclassification improvement of 0.560 (P = .007). The addition of reduced LVEF failed to improve the original model. Better predictive accuracy for all endpoints was also indicated in reduced cardiac index than in reduced LVEF.CONCLUSION Reduced cardiac index is an independent predictor of poor prognoses in HCM patients. Combining reduced cardiac in- dex rather than reduced LVEF improved the HCM risk-SCD stratifica- tion strategy. The reduced cardiac index showed better predictive accuracy than reduced LVEF for all endpoints.

Introduction: Limited data are available on the long-term impact of mild renal dysfunction (estimated glomerular filtration rate [eGFR] 60–89 mL/min/1.73 m2) in patients with three-vessel coronary disease (3VD). Methods: A total of 5,272 patients with 3VD undergoing revascularization were included and were categorized into 3 groups: normal renal function (eGFR ≥90 mL/min/1.73 m2, n = 2,352), mild renal dysfunction (eGFR 60–89, n = 2,501), and moderate renal dysfunction (eGFR 30–59, n = 419). Primary endpoint was all-cause death. Secondary endpoints included cardiac death and major adverse cardiac and cerebrovascular events (MACCE), a composite of death, myocardial infarction, and stroke. Results: During the median 7.6-year follow-up period, 555 (10.5%) deaths occurred. After multivariable adjustment, patients with mild and moderate renal dysfunction had significantly higher risks of all-cause death (adjusted hazard ratio [HR]: 1.36, 95% confidence interval [CI]: 1.07–1.70; adjusted HR: 2.06, 95% CI: 1.53–2.78, respectively) compared with patients with normal renal function. Patients after coronary artery bypass grafting (CABG) had a lower rate of all-cause death and MACCE than those undergoing percutaneous coronary intervention (PCI) in the normal and mild renal dysfunction group but not in the moderate renal dysfunction group. Results were similar after propensity score matching. Conclusions: In patients with 3VD, even mild renal impairment was significantly associated with a higher risk of all-cause death. The superiority of CABG over PCI diminished in those with moderate renal dysfunction. Our study alerts clinicians to the early screening of mild renal impairment in patients with 3VD and provides real-world evidence on the optimal revascularization strategy in patients with renal impairment.

巨细胞性心肌炎是一种罕见的疾病,其临床特点是发病后快速进展的心力衰竭,短期内可发展成难治性心力衰竭乃至心原性休克,需要紧急机械循环支持和心脏移植.本例 34 岁女性患者,上呼吸道感染后出现进行性左心室收缩功能显著降低,通过心内膜心肌活检确诊为巨细胞性心肌炎,给予免疫抑制联合激素治疗半年后,左心室收缩功能明显改善.对于感染后出现不确定的新发心肌病变伴心力衰竭,尤其是心力衰竭呈进行性加重时,应高度警惕巨细胞性心肌炎的可能性,快速及时的诊断对治疗和预后具有明确的临床意义.

Background: Risk stratification for three-vessel coronary artery disease (3VD) remains an important clinical challenge. In this study, we utilized machine learning (ML), which can address the limitations of traditional regression-based models, to develop a novel model to assess mortality risk in patients with 3VD.Methods: This study was based on a prospective cohort of 8943 participants with 3VD consecutively enrolled between 2004 and 2011. A ML-derived random forest model was trained and tested to predict 4-year mortality. The predictability of the model was compared with that of an established model, the Synergy Between Percutaneous Coronary Intervention With Taxus and Cardiac Surgery score II (SSII), among 3VD patients undergoing percutaneous coronary intervention (PCI), coronary artery bypass grafting (CABG), and medical therapy (MT) alone.Findings: The all-cause mortality was 7.5% (667 patients) over the 4-year follow-up period. The correlation-based feature selection algorithm selected 18 of the 94 features to develop the ML model. In the testing dataset, the ML-derived model achieved an area under the curve of 0.81 for 4-year mortality prediction. Its predictability was significantly better than that of the SSII among patients undergoing PCI (0.80 vs 0.70, respectively P < 0.001) or CABG (0.80 vs. 0.67, respectively, P < 0.001). The model also outperformed the SSII in patients receiving MT alone (ML: 0.75 vs. SSII for PCI: 0.70 or SSII for CABG: 0.66, P < 0.001).Interpretation: This ML-based approach exhibited better performance in risk stratification for 3VD compared with the conventional method, indicating its potential utility in clinical practice.Funding Statement: Chinese Academy of Medical Sciences, Beijing Municipal Natural Science Foundation.Declaration of Interests: None declared.Ethics Approval Statement: The study complied with the principles of the Declaration of Helsinki and was approved by the Review Board of Fuwai Hospital. All participants provided written informed consent.

Background To investigate the association of HMGCR and NPC1L1 gene polymorphisms with residual cholesterol risk (RCR) in patients with premature triple-vessel disease (PTVD). Methods Three SNPs within HMGCR including rs12916, rs2303151, and rs4629571, and four SNPs within NPC1L1 including rs11763759, rs4720470, rs2072183, and rs2073547 were genotyped. RCR was defined as achieved low-density lipoprotein cholesterol (LDL-C) concentrations after statins higher than 1.8 mmol/L (70 mg/dL). Results Finally, a total of 609 PTVD patients treated with moderate-intensity statins were included who were divided into two groups: non-RCR group (n = 88) and RCR group (n = 521) according to LDL-C concentrations. Multivariate logistic regression showed the homozygotes for the minor allele of rs12916 within HMGCR gene ( CC ) were associated with a 2.08 times higher risk of RCR in recessive model [odds ratio (OR): 2.08, 95% confidence interval (CI): 1.16–3.75]. In codominant model, the individuals homozygous for the minor allele of rs12916 ( CC ) were associated with a 2.26 times higher risk of RCR (OR: 2.26, 95% CI: 1.16–4.43) while the heterozygous individuals ( CT ) were not, compared with the individuals homozygous for the major allele of rs12916 ( TT ). There was no significant association between the SNPs within NPC1L1 gene and RCR in various models. Conclusions We first reported that the variant homozygous CC of rs12916 within HMGCR gene may incur a significantly higher risk of RCR in PTVD patients treated with statins, providing new insights into early individualized guidance of precise lipid-lowering treatment.

Aims In the clinical practice, the right ventricular (RV) manifestations have received less attention in hypertrophic cardiomyopathy (HCM). This paper aimed to evaluate the risk prediction value and genetic characteristics of RV involvement in HCM patients. Methods and results A total of 893 patients with HCM were recruited. RV hypertrophy, RV obstruction, and RV late gadolinium enhancement were evaluated by echocardiography and/or cardiac magnetic resonance. Patients with any of the above structural abnormalities were identified as having RV involvement. All patients were followed with a median follow-up time of 3.0 years. The primary endpoint was cardiovascular death; the secondary endpoints were all-cause death and heart failure (HF)-related death. Survival analyses were conducted to evaluate the associations between RV involvement and the endpoints. Genetic testing was performed on 669 patients. RV involvement was recognized in 114 of 893 patients (12.8%). Survival analyses demonstrated that RV involvement was an independent risk factor for cardiovascular death (P = 0.002), all-cause death (P = 0.011), and HF-related death (P = 0.004). These outcome results were then confirmed by a sensitivity analysis. Genetic testing revealed a higher frequency of genotype-positive in patients with RV involvement (57.0% vs. 31.0%, P < 0.001), and the P/LP variants of MYBPC3 were more frequently identified in patients with RV involvement (30.4% vs. 12.0%, P < 0.001). Logistic analyses indicated the independent correlation between RV involvement and these genetic factors. Conclusion RV involvement was an independent risk factor for cardiovascular death, all-cause death and HF-related death in HCM patients. Genetic factors might contribute to RV involvement in HCM.

Background Insulin resistance is a pivotal risk factor for cardiovascular diseases, and the triglyceride-glucose (TyG) index is a well-established surrogate of insulin resistance. This study aimed to investigate the prognostic value of the TyG index and its ability in therapy guidance in patients with three-vessel disease (TVD). Methods A total of 8862 patients with TVD with available baseline TyG index data were included in the study. The endpoint was major adverse cardiac events (MACE). All patients received coronary artery bypass grafting (CABG), percutaneous coronary intervention (PCI), or medical therapy (MT) alone reasonably. Results An elevated TyG index was defined as the TyG index greater than 9.51. During a median follow-up of 7.5 years, an elevated TyG index was significantly associated with an increased risk of MACE (adjusted hazard ratio 1.161, 95% confidence interval 1.026–1.314, p = 0.018). The elevated TyG index was shown to have a more pronounced predictive value for MACE in patients with diabetes, but failed to predict MACE among those without diabetes, whether they presented with stable angina pectoris (SAP) or acute coronary syndrome (ACS). Meanwhile, the association between an elevated TyG index and MACE was also found in patients with left main involvement. Notably, CABG conferred a significant survival advantage over PCI in patients with a normal TyG index, but was not observed to be superior to PCI in patients with an elevated TyG index unless the patients had both ACS and diabetes. In addition, the benefit was shown to be similar between MT and revascularisation among patients with SAP and an elevated TyG index. Conclusions The TyG index is a potential indicator for risk stratification and therapeutic decision-making in patients with TVD. Graphical Abstract

目的:探讨心肌肥厚患者中心肌淀粉样变(CA)的检出率,并分析其临床特点与预后.方法:回顾分析2020年4月至2021年1月在中国医学科学院阜外医院心肌病病区住院的心肌肥厚患者中,经组织病理确诊CA的患者比例、临床表现、辅助检查及预后.结果:373例心肌肥厚患者中,21例(5.6％)经组织病理活检证实为CA.其中,免疫球蛋白轻链型心肌淀粉样变(AL-CA)19例(5.1％),转甲状腺素蛋白型心肌淀粉样变(ATTR-CA)2例(0.5％).患者平均年龄(58.2±9.2)岁,男性17例(81.0％),就诊症状主要为胸闷、气短19例(90.5％),晕厥5例(23.8％),浮肿4例(19.1％);中位病程7(6,13)个月.AL-CA根据梅奥2012分期,Ⅲ期7例(36.8％),Ⅳ期11例(57.9％).2例ATTR-CA分期均为Ⅱ期.心电图以肢体导联QRS低电压(16例,76.2％)、胸前导联R波递增不良(15例,71.4％)为主;超声心动图双心房增大(13例,61.9％),左心室射血分数(56.5±9.3)％,室间隔厚度(16.9±3.4)mm,舒张功能减低21例(100％),心包积液16例(76.2％);心脏磁共振成像(CMR)示心内膜弥漫延迟强化21例(100％).中位随访3.1(1.8,6.4)个月,7例(33.3％)死亡,均为AL-CA患者.中位总生存时间7个月.经Cox回归分析,校正年龄、性别后,左心房前后径仍是AL-CA患者死亡的独立预测因素(HR=1.20,95％CI:1.01～1.44,P=0.042).结论:CA在心肌肥厚患者中并不罕见.心电图呈肢导低电压、超声心动图示双心房增大及心包积液、CMR示心内膜弥漫延迟强化,需怀疑CA.左心房前后径是AL-CA患者死亡的独立预测因素.

Danon病是一种罕见的X连锁显性遗传性疾病,是由2型溶酶体膜蛋白酶(lysosomal-associated membrane protein-2,LAMP2)基因突变引起LAMP2缺陷,从而导致多系统溶酶体贮积性疾病.因男性表现为L4MP2半合子基因,故该病在男性中发病较多,临床症状更为严重,多在20岁前出现心脏症状,并快速进展为晚期心力衰竭,常因猝死或心力衰竭而在30岁前死亡[1],女性较少发病,临床表现相对较轻,累及的系统相对较少,临床容易漏诊.本文报道笔者发现的1例女性以肥厚型心肌病为临床表现的Danon病.

Background Coronary heart disease and diabetes are highly interrelated and complex diseases. We proposed to investigate the association of genetic polymorphisms of the lipoprotein important regulatory genes Niemann-Pick C1-like 1 (NPC1L1) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) in patients with premature triple-vessel coronary disease (PTVD) with diabetes, blood glucose and body mass index. Methods Four single-nucleotide polymorphisms (SNPs) (rs11763759, rs4720470, rs2072183 and rs2073547) of NPC1L1 and three SNPs (rs12916, rs2303151 and rs4629571) of HMGCR were genotyped in 872 PTVD patients. Results After performing logistic regression analysis adjusted for age and sex, rs2303151 of HMGCR was related to the risk of diabetes in the dominance model (odds ratio = 1.35, 95% confidence interval = 1.01-1.80, p = 0.04). However, the four SNPs of NPC1L1 were not associated with the risk of diabetes. Further analyses showed that neither the above SNPs of NPC1L1, nor the SNPs of HMGCR were related to blood glucose and body mass index (all p > 0.05). Conclusions We report that rs2303151 is a novel polymorphism of the HMGCR gene related to the risk of diabetes in PTVD patients, which suggests HMGCR may be a potential common targeted pathogenic pathways between coronary heart disease and diabetes.

Aims: To investigate clinical values associated with the “left ventricular (LV) trabeculation phenotype” that did not meet the diagnostic criteria of LV noncompaction (LVNC) in hypertrophic cardiomyopathy (HCM). Hypothesis: The presence of left ventricular trabeculation phenotype was associated with a poor prognosis in HCM patients. Genetic factors contributed to this particular phenotype. Methods: A total of 940 HCM patients were recruited. The primary endpoint was cardiovascular death; the secondary endpoints were sudden cardiac death (SCD) and all-cause death. The LV trabeculation phenotype was assessed by cardiac magnetic resonance. Baseline and survival analyses regarding the LV trabeculation phenotype were conducted in general HCM patients and obstructive subset. A combination model was constructed by adding the LV trabeculation phenotype to the HCM risk-SCD model. The whole exome sequencing was used for genetic analysis. Results: The LV trabeculation phenotype was recognized in 34.5% HCM patients and was mostly observed at the apex and free wall. Patients with the LV trabeculation phenotype were younger, had a higher prevalence of family history of SCD and more frequent presence of late gadolinium enhancement. Cox proportional hazards regression analysis showed that the LV trabeculation phenotype increased the risk of cardiovascular death (P=0.031), SCD (P=0.008), and all-cause death (P=0.047) in obstructive HCM patients. Furthermore, the LV trabeculation phenotype-combined model improved risk stratification for SCD. The genetic analysis showed that DTNA variants were more frequently identified in patients with the LV trabeculation phenotype. Conclusions: The LV trabeculation phenotype contributes to risk stratification in obstructive HCM, thus this parameter should be assessed in obstructive HCM patients even if the degree of trabeculation does not fulfil the LVNC criteria. DTNA mutation underlies the cause of this phenotype.

Abstract Background Heart failure with preserved ejection fraction (HFpEF) is the dominant form of heart failure (HF). We here aimed to investigate the characteristics and prognosis of HFpEF in patients with hypertrophic cardiomyopathy (HCM). Methods This was a prospective cohort study and patients with HCM with available NT-proBNP results were enrolled. Patients were categorized into HFpEF [defined as LVEF ≥50%, with symptoms or signs of HF, and N-terminal pro-brain natriuretic peptide ≥800 pg/mL according to American Heart Association (AHA) criteria] and without heart failure (non-HF). The outcomes of interest were all-cause death, cardiovascular death, and sudden cardiac death (SCD). Results Of 1178 included patients with HCM, 513 (43.5%) were identified as having HFpEF according to AHA criteria. Compared with non-HF patients, patients with HFpEF had significantly larger maximal wall thickness (P < 0.001), higher maximal left ventricular outflow tract gradient (P < 0.001), higher proportion of atrial fibrillation (P < 0.001), higher incidence of all-cause death (log-rank test, P = 0.002), and cardiovascular death (log-rank test, P = 0.005). Multivariable Cox analysis showed that patients with HFpEF had a nearly two-fold higher risk of all-cause death (adjusted HR = 1.80, 95% CI 1.11–2.90; P = 0.017) and cardiovascular death (adjusted HR =1.82, 95% CI 1.05–3.18; P = 0.033) than non-HF patients. Conclusions Patients with HCM have a high prevalence of HFpEF and those with HFpEF present greater disease severity and higher mortality than non-HF patients, and thus may require an appropriate and more aggressive treatment for HF management. Identification of patients with HFpEF using AHA criteria can provide guidance on patient risk stratification for patients with HCM.