Identification of A Novel Variant of Filamin A Destroying the Attraction Between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip.

Developmental dysplasia of the hip (DDH), characterized by acetabular deformity that manifests from loose ligaments to complete dislocation of the hip, can cause notable pain and dysfunction and lead to hip dislocation, secondary fractures, scoliosis, and osteoarthritis of hip. Variants in FLNA may produce a spectrum of malformations in multiple organs, especially the skeleton. This study aimed to identify the genetic etiologies of DDH patients and provide genetic testing information for further diagnosis and treatment of DDH. We recruited a Chinese woman with DDH and her family members. Whole-exome sequencing was used to identify the patient's genetic etiologies. Protein models were used to analyze the pathogenic mechanism of the identified variants. A novel variant (c.3493T>G, p.C1165G) of FLNA was detected. The structural models of the mutant FLNA protein indicated that the variant would lose its sulfhydryl side chain and destroy the attraction between benzene rings and sulfhydryl. We reported a novel variant (c.3493T>G, p.C1165G) of FLNA in a Chinese woman with DDH. Our research outcome enriches the gene pool for hip dysplasia and emphasizes the pathogenicity of sulfhydryl side chain disruption in FLNA.

Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly.

Background: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder with clinical features of arthrogryposis, arachnodactyly, crumpled ears, scoliosis, and muscular hypoplasia. The heterozygous pathogenic variants in FBN2 have been shown to cause CCA. Fibrillin-2 is related to the elasticity of the tissue and has been demonstrated to play an important role in the constitution of extracellular microfibrils in elastic fibers, providing strength and flexibility to the connective tissue that sustains the body's joints and organs. Methods: We recruited two Chinese families with arachnodactyly and bilateral arthrogryposis of the fingers. Whole-exome sequencing (WES) and co-segregation analysis were employed to identify their genetic etiologies. Three-dimensional protein models were used to analyze the pathogenic mechanism of the identified variants. Results: We have reported two CCA families and identified two novel missense variants in FBN2 (NM_001999.3: c.4093T>C, p.C1365R and c.2384G>T, p.C795F). The structural models of the mutant FBN2 protein in rats exhibited that both the variants could break disulfide bonds. Conclusion: We detected two FBN2 variants in two families with CCA. Our description expands the genetic profile of CCA and emphasizes the pathogenicity of disulfide bond disruption in FBN2.

Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas.

Multiple osteochondromas (MO) is an autosomal dominant hereditary disorder, which typically manifests as skeletal dysplasia, mainly involving long bones and knees, ankles, elbows, wrists, shoulders, and pelvis. Previous studies have demonstrated that mutations in exostosin glycosyl transferase-1 (EXT1) and exostosin glycosyl transferase-2 (EXT2) were the main cause of MO. In this study, we enrolled 2 families with MO. Sanger sequencing revealed 2 novel frameshift mutations - c.1432_1433insCCCCCCT; p.Lys479Profs*44 and c.1431_1431delC; p.S478PfsX10 - in the EXT1 gene detected in 2 families, respectively. Both novel mutations, located in the conserved domain of EXT1 and predicted to be disease causing by informatics programs, were absent in our 200 control cohorts and other public databases. Our study expanded the spectrum of EXT1 mutations and contributed to genetic diagnosis and counseling of patients with MO.

Twelve-year outcomes after revascularization for ostial/shaft lesions in unprotected left main coronary artery.

OBJECTIVE: To evaluate a very long-term clinical outcomes of patients treated with coronary artery bypass grafting (CABG) and percutaneous coronary intervention (PCI) with drug-eluting stents (DES) for ostial/shaft lesions in unprotected left main coronary artery (ULMCA). METHODS & RESULTS: A total of 472 patients with isolated ostial/shaft lesions in ULMCA were enrolled, who received DES implantation or underwent CABG between January 2003 and July 2009 in Beijing Anzhen Hospital. The major endpoints of this study were death, repeat revascularization, non-procedural myocardial infarction (MI) and stroke. The median follow-up was twelve years (interquartile range: 9.4-14.0 years) in the overall patients. There were no significant differences of incidence of death (23.3% vs. 25.6%, P = 0.227), repeat revascularization (27.3% vs. 28.4%, P = 0.423), non-procedural MI (20.0% vs. 14.5%, P = 0.561), and stroke (6.1% vs. 9.3%, P = 0.255) between PCI and CABG groups before multivariate adjusting. After adjusting covariates with multivariate Cox hazard regression model, there were still no significant differences between PCI and CABG groups. CONCLUSIONS: During the median follow-up of twelve years, we found that PCI with DES was as effective and safe as CABG in patients with left main ostial/shaft lesion in this observational study.

Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family.

Background: Hereditary sensory and autonomic neuropathies (HSANs) are a rare and severe group of sensory axonal neuropathies. HSANs have been classified into eight groups based on mode of inheritance, clinical features, and the involved genes. HSAN-VI, perhaps the most notable type, is an autosomal recessive disease, which manifests as the severely impaired pain sensitivity, autonomic disturbances, distal myopathy, spontaneous or surgical amputations, and sometimes early death. Mutations in DST have been identified as the cause of HSAN-VI. DST encodes dystonin, a member of the plakin protein family that is involved in cytoskeletal filament networks. Dystonin has seven major isoforms in nerve, muscle, and epithelium. Material and Methods: The present study investigated a Chinese family with HSAN and explored potential pathogenic variants using whole-exome sequencing (WES). Variants were screened and filtered through bioinformatics analysis and prediction of variant pathogenicity. Co-segregation analysis was subsequently conducted. Results: We identified compound heterozygous variants of DST (c.3304G>A, p.V1102I and c.13796G>A, p.R4599H) in two patients. Conclusion: We reported on a Chinese family with HSAN-VI family and detected the disease-causing variants. Our description expands the spectrum of known DST variants and contributes to the clinical diagnosis of HSAN-VI.

A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.

BACKGROUND: Tumor protein p63 (TP63)-related disorders can be divided into at least six categories, including ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC syndrome 3), ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC syndrome), acro-dermo-ungual-lacrimal-tooth syndrome (ADULT syndrome), limb-mammary syndrome (LMS), Rapp-Hodgkin syndrome (RHS) and split-hand/foot malformation 4 (SHFM4), and are all a result of heterozygous mutations of TP63. The phenotypes of TP63-related disorders broadly involve ectodermal dysplasias, acromelic malformation and orofacial cleft. SHFM and hypodontia are prominent clinical manifestations of TP63-related disorders. METHODS: The present study investigated a family with SHFM and hypodontia; determined the sequences of DLX5, WNT8B, WNT10B, BHLHA9, CDH3, DYNC1I1 and FGFR1; and performed single nucleotide polymorphism-array analysis. We detected the mutation by multiple sequence alignments and a bioinformatic prediction. RESULTS: We identified a novel missense mutation of TP63 (c.1010G>T; R337L) in the family without mutations of DLX5, WNT8B, WNT10B, BHLHA9, CDH3, DYNC1I1, FGFR1 and copy number variants causing SHFM. CONCLUSIONS: A mutation of TP63 (c.1010G>T; R337L) leads to SHFM with hypodontia. The identification of this mutation expands the spectrum of known TP63 mutations and also may contribute to novel approaches for the genetic diagnosis and counseling of families with TP63-related disorders.

Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families.

OBJECTIVE: Mucolipidosis II and III alpha/beta (ML II & ML III alpha/beta) are rare autosomal recessive lysosomal storage disorders. ML II is clinically evident from birth with a progressive course and fatal outcome in childhood. The typical phenotypes of ML II include limited statural growth, craniofacial abnormality, skeletal malformation, intelligence developmental deficiency and visceral organ abnormality. ML III is milder than ML II. Mutations in GNPTAB cause the ML II/III. METHODS: Two families with ML II/III (initially undiagnosed) were recruited. We applied whole-exome sequencing (WES) and filtered mutations by genes causing lysosomal storage diseases with skeletal involvement. Mutational analysis and co-segregation confirmation were then performed. RESULTS: We presented two families with ML II or ML III alpha/beta. By WES, the compound heterozygosity of GNPTAB (c.2404C>T, p.Q802* and c.2590dup, p.E864Gfs*4) is identified in a family with ML II, and c.1364C>T, p.A455V and c.2715+1G>A are detected in a family with ML III alpha/beta. CONCLUSION: We detected the causative mutations in two ML II/III families by WES and confirmed their diagnosis of the diseases. The present identification of mutations expands the spectrum of known GNPTAB mutations and it may contribute to novel approaches to genetic diagnosis and counseling for patients with ML II/III.

Long-term outcomes of PCI vs. CABG for ostial/midshaft lesions in unprotected left main coronary artery.

BACKGROUND: There are limited data on long-term (> 5 years) outcomes of drug-eluting stent (DES) implantation compared with coronary artery bypass grafting (CABG) for ostial/midshaft left main coronary artery (LMCA) lesions. METHODS: Of the 259 consecutive patients in Beijing Anzhen Hospital with ostial/midshaft LMCA lesions, 149 were treated with percutaneous coronary intervention (PCI) with DES and 110 were with CABG. The endpoints of the study were death, repeat revascularization, myocardial infarction (MI), stroke, the composite of cardiac death, and major adverse cardiac and cerebrovascular events (MACCE, the composite of cardiac death, MI, stroke or repeat revascularization).The duration of follow-up is 7.1 years (interquartile range 5.3 to 8.2 years). RESULTS: There is no significant difference between the PCI and CABG group during the median follow-up of 7.1 years (interquartile range: 5.3-8.2 years) in the occurrence of death (HR: 0.727, 95% CI: 0.335-1.578; P = 0.421), the composite endpoint of cardiac death, MI or stroke (HR: 0.730, 95% CI: 0.375-1.421; P = 0.354), MACCE (HR: 1.066, 95% CI: 0.648-1.753; P = 0.801), MI (HR: 1.112, 95% CI: 0.414-2.987; P = 0.833), stroke (HR: 1.875, 95% CI: 0.528-6.659; P = 0.331), and repeat revascularization (HR: 1.590, 95% CI: 0.800-3.161; P = 0.186). These results remained after multivariable adjusting. CONCLUSION: During a follow-up up to 8.2 years, we found that DES implantation had similar endpoint outcomes compared with CABG.

A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome.

Werner Syndrome (WS) is a rare, adult­onset progeroid syndrome that is associated with multiple age­associated complications and relatively short life expectancy. The characteristics of WS include a 'bird­like' appearance, canities, cataracts and ulcerations around the ankles. In addition, certain patients develop hypogonadism with atrophic genitalia and infertility. The average life span of affected individuals is 54 years. Previous studies have demonstrated that mutations in the Werner syndrome RecQ like helicase gene (WRN) may contribute to WS. The present study investigated a consanguineous family with WS, comprising of 4 generations from Northwest China (Gansu province). A novel homozygous splice­site mutation in WRN (c.IVS28+2T>C) was identified in this family and was predicted to be deleterious. No further relevant mutations were identified by direct sequencing of the genes lamin A/C, barrier to autointegration factor 1, zinc metallopeptidase STE24 and DNA polymerase Δ1. cDNA sequencing and alignments were performed to further confirm the pathogenicity of this mutation. The results support the important role of WRN in WS and expand the spectrum of known WRN mutations. In addition, it may provide novel approaches in genetic diagnosis and counseling of families with WS.

Very Long-term Outcomes and Predictors of Percutaneous Coronary Intervention with Drug-eluting Stents Versus Coronary Artery Bypass Grafting for Patients with Unprotected Left Main Coronary Artery Disease.

BACKGROUND: There are limited data on longer-term outcomes (>5 years) for patients with unprotected left main coronary artery (ULMCA) disease who underwent percutaneous coronary intervention (PCI) in the drug-eluting stents (DES) era. This study aimed at comparing the long-term (>5 years) outcomes of patients with ULMCA disease underwent PCI with DES and coronary artery bypass grafting (CABG) and the predictors of adverse events. METHODS: All consecutive patients with ULMCA disease treated with DES implantation versus CABG in our center, between January 2003 and July 2009, were screened for analyzing. A propensity score analysis was carried out to adjust for potential confounding between the two groups. RESULTS: Nine hundred and twenty-two patients with ULMCA disease were enrolled for the analyses (DES = 465 vs. CABG = 457). During the median follow-up of 7.1 years (interquartile range 5.3-8.2 years), no difference was found between PCI and CABG in the occurrence of death (P = 0.282) and the composite endpoint of cardiac death, myocardial infarction (MI) and stroke (P = 0.294). Rates of major adverse cardiac and cerebrovascular events were significantly higher in the PCI group (P = 0.014) in large part because of the significantly higher rate of repeat revascularization (P < 0.001). PCI was correlated with the lower occurrence of stroke (P = 0.004). Multivariate analysis showed ejection fraction (EF) (P = 0.012), creatinine (P = 0.016), and prior stroke (P = 0.031) were independent predictors of the composite endpoint of cardiac death, MI, and stroke in the DES group, while age (P = 0.026) and EF (P = 0.002) were independent predictors in the CABG group. CONCLUSIONS: During a median follow-up of 7.1 years, there was no difference in the rate of death between PCI with DES implantation and CABG in ULMCA lesions in the patient cohort. CABG group was observed to have significantly lower rates of repeat revascularization but higher stroke rates compared with PCI. EF, creatinine, and prior stroke were independent predictors of the composite endpoint of cardiac death, MI, and stroke in the DES group, while age and EF were independent predictors in the CABG group.

Predictive Ability of the SYNergy Between Percutaneous Coronary Intervention with TAXus and Cardiac Surgery Score II for Long-term Mortality in Patients with Three-vessel Coronary Artery Disease Undergoing Percutaneous Coronary Intervention Treated with Second-generation Drug-eluting Stents.

BACKGROUND: The SYNergy between percutaneous coronary intervention with TAXus and cardiac surgery Score II (SS-II) can well predict 4-year mortality in patients with complex coronary artery disease (CAD), and guide decision-making between coronary artery bypass graft surgery and percutaneous coronary intervention (PCI). However, there is lack of data regarding the utility of the SS-II in patients with three-vessel CAD undergoing PCI treated with second-generation drug-eluting stents (DES). The purpose of the present study was to evaluate the ability of the SS-II to predict long-term mortality in patients with three-vessel CAD undergoing PCI with second-generation DES. METHODS: Totally, 573 consecutive patients with de novo three-vessel CAD who underwent PCI with second-generation DES were retrospectively studied. According to the tertiles of the SS-II, the patients were divided into three groups: The lowest SS-II tertile (SS-II ≤20), intermediate SS-II tertile (SS-II of 21-31), and the highest SS-II tertile (SS-II ≥32). The survival curves of the different groups were estimated by the Kaplan-Meier method. Univariate and multivariate Cox proportional hazard regression analyses were performed to evaluate the relationship between the SS-II and 5-year mortality. The performance of the SS-II with respect to predicting the rate of mortality was studied by calculating the area under the receiver operator characteristic (ROC) curve. The predictive ability of the SS-II for 5-year mortality was evaluated and compared with the SS alone. RESULTS: The overall SS-II was 27.6 ± 9.0. Among patients in the lowest, intermediate and the highest SS-II tertiles, the 5-year rates of mortality were 1.6%, 3.2%, and 8.6%, respectively (P = 0.003); the cardiac mortality rates were 0.5%, 1.9%, and 5.2%, respectively (P = 0.014). By multivariable analysis, adjusting for the potential confounders, the SS-II was an independent predictor of 5-year mortality (hazard ratio: 2.45, 95% confidence interval: 1.38-4.36; P = 0.002). The SS-II demonstrated a higher predictive accuracy for 5-year mortality compared with the SS alone (the area under the ROC curve was 0.705 and 0.598, respectively). CONCLUSION: The SS-II is an independent predictor of 5-year mortality in patients with three-vessel CAD undergoing PCI treated with second-generation DES, and demonstrates a superior predictive ability over the SS alone.

[Relationship between estimated glomerular filtration rate level and clinical characteristics and outcome in patients with angiographic coronary artery disease and normal serum creatinine].

OBJECTIVE: To explore the relationship between estimated glomerular filtration rate level and clinical characteristics and outcome in coronary artery disease (CAD) patients with normal serum creatinine. METHOD: A total of 548 hospitalized and angiographic CAD patients with normal fasting serum creatinine were enrolled. The kidney function was estimated by using the abbreviated modification of diet in renal disease (MDRD) study equation. Patients were divided into three groups according to eGFR tertiles: high eGFR group (eGFR > 88.15 ml×min(-1)×1.73 m(-2), n = 184); intermediate group ZU(70.30 ml× min(-1)×1.73 m(-2) < eGFR ≤ 88.15 ml×min(-1)×1.73 m(-2), n = 187); low eGFR group (eGFR ≤ 70.30 ml × min(-1)×1.73 m(-2), n = 177). Clinical data and cardiovascular risk factors were recorded after admission and during (14.02 ± 8.31) months follow up. The primary end point was combined major adverse cardiovascular and cerebral events (MACCE) including death, targeted vascular revascularization, non-fatal myocardial infarction, rehospitalization due to unstable angina and heart failure, and transient ischemic attack (TIA) and stroke. RESULTS: Patients in intermediate and low eGFR groups were older, more males, had more severe coronary artery disease, higher level of hsCRP, higher incidence of hypertension, and lower smoking rate than those in high eGFR group (all P < 0.05). A total of 89 MACCE were recorded during follow up. The level of eGFR was significantly lower in patients with MACCE than patients without MACCE [(73.76 ± 19.81) ml×min(-1)×1.73 m(-2) vs. (84.97 ± 23.42) ml×min(-1)×1.73 m(-2), P < 0.05]. Univariate and multivariate Cox regression analysis showed that eGFR was an independent predictor of MACCE in patients with CAD (univariate analysis: RR = 0.99, 95%CI:0.973-0.997, P < 0.05; multivariate analysis: RR = 0.98, 95%CI:0.976-0.998, P < 0.05). Kaplan-Meier survival analysis suggested that patients with low eGFR was linked with a decreased event free survival ratio (log-rank χ(2) = 7.271, P < 0.05). CONCLUSIONS: eGFR level in CAD patients with normal serum creatinine is associated with coronary artery severity, inflammation level and serves as an independent predictor for MACCE in this patient cohort.

[Clinical characterization of patients with Danon disease].

OBJECTIVE: To analyze the clinical characterization of Danon disease caused by the mutation of lysosome-associated membrane protein-2 (LAMP-2) gene. METHODS: The clinical features, serum biochemical index, electrocardiogram and echocardiography data were retrospectively reviewed in 5 patients with genetically confirmed Danon disease. Mean follow-up period was (56 ± 6) months. RESULTS: Five patients including 2 men and 3 women in 2 unrelated families with 2 novel mutations in the exon 3 (c.189-190TGdel) and 8 (c.1205Cdel) of the LAMP-2 gene were identified. All patients had cardiomyopathy, 1 patient (1/5) had skeletal myopathy, and none of the patients had mental retardation. The two male patients presented cardiac symptoms at the age of 9 and 10 years, respectively, and all female patients were asymptomatic. Biochemical analysis showed that serum creatine kinase and liver transaminase enzyme were increased in 2 patients (2/5). Abnormal electrocardiogram was observed in all patients, and 2 patients (2/5) had ventricular preexcitation. During the follow-up. One male patient died of cardiac failure at the age of 18 years and three months, and the symptoms of the other male patients rapidly developed with the evolution from hypertrophic cardiomyopathy into dilated cardiomyopathy. However, all female patients remained asymptomatic, and repeat echocardiography indicated only mild ventricular hypertrophy during follow up. CONCLUSION: Patients with Danon disease mainly present hypertrophic cardiomyopathy, and sometimes presents with skeletal myopathy. The disorder occurs at early, age and progresses quickly and ends with poor prognosis in male patients. Other clinical features include elevations of serum creatine kinase and liver transaminase enzyme, ventricular preexcitation on electrocardiogram, and ventricular hypertrophy detected by echocardiography. Female patients remain asymptomatic till now in our cohort.

Increased plasma levels of intermedin and brain natriuretic peptide associated with severity of coronary stenosis in acute coronary syndrome.

Intermedin (IMD) is a newly discovered peptide with increased levels in plasma and cardiac tissue in mice with ischemia/reperfusion. Continuous administration of low dose IMD markedly elevated the mRNA abundance of myocardial BNP in rats. Plasma BNP levels may reflect the severity of degree of coronary stenosis in patients with acute coronary syndrome (ACS). However, the role of circulating IMD in coronary heart disease remains unclear. We aimed to examine the plasma content of IMD and brain natriuretic peptide (BNP) and its clinical significance in patients with ACS. We collected plasma samples from 41 patients with ACS and 31 controls and measured IMD and BNP levels by radioimmunoassay. The severity of coronary artery stenosis for patients with ACS was measured by coronary angiography. Plasma IMD and BNP levels were markedly higher in ACS patients than that in controls (P<0.05). The increased plasma IMD and BNP were positively correlated with degree of coronary stenosis in ACS patients (r=0.263 and r=0.238, respectively, both P<0.05). In addition, plasma levels of IMD were positively correlated with BNP levels.

[Clinical characteristics of coronary artery disease patients with reduced left ventricular ejection fraction and their prognostic analysis].

OBJECTIVE: To explore the relationship between reduced left ventricular ejection fraction (LVEF) and characteristics of coronary artery disease (CAD) and investigate the association between reduced LVEF and cardiovascular prognosis. METHODS: A total of 677 hospitalized patients with angiographic CAD were enrolled. All patients' clinical data were recorded. LVEF were measured, high sensitive C-reactive protein (hs-CRP), white blood cell (WBC) and classic cardiovascular risk factors were recorded after admission. All patients were followed up from admission. The primary end point was combination occurrence of major adverse cardiovascular and cerebral events (MACCE), including death, targeted vascular revascularization, non-fatal myocardial infarction and rehospitalization due to unstable angina or heart failure, transient ischemic attack or stroke. RESULTS: All patients were tracked for (15±12) months, and patients were divided into normal LVEF group (LVEF≥0.50, n=585) and reduced LVEF group (LVEF<0.50, n=92) according to LVEF level. Compared with normal LVEF group, reduced LVEF group had more severe coronary stenosis (Gensini score: 62.85±41.45 vs. 47.68±33.26, P<0.05), a higher level of WBC and hs-CRP (WBC: 7.60±2.71 ×10(9)/L vs. 7.09±2.13 ×10(9)/L, hs-CRP: 5.68±3.97 mg/L vs. 3.97±3.75 mg/L, both P<0.05). A total of 146 MACCE occurred during follow-up periods. Compared with no-MACCE group, LVEF levels were significantly lower in MACCE group (0.576±0.113 vs. 0.603±0.101) and there were a higher level of hs-CRP and Gensini score in MACCE group (hs-CRP: 5.26±3.99 mg/L vs. 3.91±3.72 mg/L, Gensini score: 53.72±35.50 vs. 48.63±34.59, all P<0.05). Moreover, both of univariate and multivariate Cox regression analysis indicated LVEF be an independent predictor of MACCE in patients with CAD [univariate: relative risk (RR)=0.974, 95% confidence interval (95%CI) 0.960 to 0.988, P=0.000; multivariate: RR=0.979, 95%CI 0.961 to 0.998, P=0.033]. Kaplan-Meier analysis suggested that patients with reduced LVEF had an increased MACCE occurrence (χ(2)=14.56, P<0.05). CONCLUSION: LVEF level may be associated with coronary artery severity, and could be independently predict the prognosis of CAD.

[The value of SYNTAX score in predicting outcome patients undergoing percutaneous coronary intervention].

OBJECTIVE: To assess the value of SYNTAX score to predict major adverse cardiac and cerebrovascular events (MACCE) among patients with three-vessel or left-main coronary artery disease undergoing percutaneous coronary intervention. METHODS: 190 patients with three-vessel or left-main coronary artery disease undergoing percutaneous coronary intervention (PCI) with Cypher select drug-eluting stent were enrolled. SYNTAX score and clinical SYNTAX score were retrospectively calculated. Our clinical Endpoint focused on MACCE, a composite of death, nonfatal myocardial infarction (MI), stroke and repeat revascularization. The value of SYNTAX score and clinical SYNTAX score to predict MACCE were studied respectively. RESULTS: 29 patients were observed to suffer from MACCE, accounting 18.5% of the overall 190 patients. MACCE rates of low (≤ 20.5), intermediate (21.0 - 31.0), and high (≥ 31.5) tertiles according to SYNTAX score were 9.1%, 16.2% and 30.9% respectively. Both univariate and multivariate analysis showed that SYNTAX score was the independent predictor of MACCE. MACCE rates of low (≤ 19.5), intermediate (19.6 - 29.1), and high (≥ 29.2) tertiles according to clinical SYNTAX score were 14.9%, 9.8% and 30.6% respectively. Both univariate and multivariate analysis showed that clinical SYNTAX score was the independent predictor of MACCE. ROC analysis showed both SYNTAX score (AUC = 0.667, P = 0.004) and clinical SYNTAX score (AUC = 0.636, P = 0.020) had predictive value of MACCE. Clinical SYNTAX score failed to show better predictive ability than the SYNTAX score. CONCLUSIONS: Both SYNTAX score and clinical SYNTAX score could be independent risk predictors for MACCE among patients with three-vessel or left-main coronary artery disease undergoing percutaneous coronary intervention. Clinical SYNTAX score failed to show better predictive ability than the SYNTAX score in this group of patients.

[Coronary artery bypass grafting for elderly with unprotected left main coronary artery disease: a clinical analysis].

OBJECTIVE: To study the correlation between the clinical features and the prognosis in elderly patients with unprotected left main coronary artery disease (ULMCA) after coronary artery bypass grafting (CABG). METHODS: The clinical parameters and prognosis data from 176 patients received CABG for ULM were retrospectively analyzed for comparison of elderly (age≥65) and against non-elderly (age < 65). RESULTS: The elderly patients were found to have significantly higher level of blood high density lipoprotein cholesterin (HDL-C, mmol/L: 28.36 ± 17.20 vs. 13.68 ± 7.78, P < 0.01), lower level of blood low density lipoprotein cholesterin (LDL-C, mmol/L: 1.21 ± 0.77 vs. 2.48 ± 1.27, P < 0.01) and higher level of coronary stenosis [(94.56 ± 8.01)% vs. (87.96 ± 11.10)%, P < 0.01]. The incidence of multi-vessel disease (75.9% vs. 58.1%, P < 0.05) and chronic total occlusion (55.4% vs. 29.0%, P < 0.05) were both significantly higher in the elderly. No significant difference was found between the two groups in major adverse cardiac and cerebral events (MACCE), cerebral infarction, myocardial infarction, cardiac mortality, and total mortality (16.9% vs 17.2%, 3.6% vs 3.2%, 3.6% vs 5.4%, 6.0% vs 9.7%, and 12.0% vs 8.6%, all P > 0.05). CONCLUSION: In the elderly ULMCA patients the coronary lesions are more severe, but CABG is still a safe and efficient therapy for these patients.

Successful treatment with biventricular pacing in a patient with hypertrophic obstructive cardiomyopathy.

We report the effects of biventricular pacing in a patient with hypertrophic obstructive cardiomyopathy (HOCM) refractory to medical therapy. A 58-year-old man with HOCM had suffered from dyspnea, chest pain and palpitation for 5 years. Cardiac catheterization showed a left ventricular outflow tract (LVOT) gradient of 80 mmHg. He refused septal myomectomy and the septal ablation was not available. Based on intraoperative pressure measurements, he was implanted with biventricular pacing and LVOT gradient decreased to 10 mmHg. During the follow-up period of 6 months, the patient's symptoms were markedly improved. Biventricular pacing may be an alternative therapy for patients with HOCM.