Impact of interventional therapy on top of standard drug therapy on left ventricular structure and function in HFrEF patients complicating with middle aortic syndrome caused by Takayasu arteritis / 中华心血管病杂志

Objective: To evaluate the impact of interventional therapy on top of drug therapy on cardiac function and structure in heart failure with reduced ejection fraction (HFrEF) patients complicating with middle aortic syndrome caused by Takayasu arteritis (TA-MAS). Methods: It was a retrospective longitudinal study. The data of patients with TA-MAS and HFrEF, who received interventional therapy on top of drug therapy in Fuwai Hospital from January 2010 to September 2020, were collected and analyzed. Baseline clinical data (including demographic data, basic treatment, etc.) were collected through the electronic medical record system. Changes of indexes such as New York Heart Association (NYHA) classification, N-terminal pro-brain natriuretic peptide (NT-proBNP), left ventricular end diastolic diameter (LVEDD), left ventricular ejection fraction (LVEF), left ventricular mass index (LVMI) before and after therapy were analyzed. Results: A total of 10 patients were collected. There were 8 females in this patient cohort, age was (18.4±5.0) years and onset age was (15.3±5.0) years. All 10 patients received standard heart failure medication therapy in addition to hormone and/or immunosuppressive anti-inflammatory therapy, but cardiac function was not improved, so aortic balloon dilatation and/or aortic stenting were performed in these patients. The median follow-up was 3.3(1.3, 5.6) years. On the third day after interventional therapy, the clinical symptoms of the 10 patients were significantly improved, NYHA classfication was restored from preoperative Ⅲ/Ⅳ to Ⅱ at 6 months post intervention(P<0.05). Compared with preoperation, NT-proBNP (P=0.028), LVEDD (P=0.011) and LVMI (P=0.019) were significantly decreased, LVEF was significantly increased (P<0.001) at 6 months after operation. Compared with preoperation, NT-proBNP (P=0.016), LVEDD (P=0.023) and LVMI (P=0.043) remained decreased, LVEF remained increased (P<0.001) at 1 year after operation. Conclusion: Results from short and medium term follow-up show that interventional therapy on top of heart failure drug therpay can effectively improve left cardiac function and attenuate cardiac remodeling in patients with TA-MAS comorbid with HFrEF.

The Impact of Renal Artery Stenting Techniques on Interventional Therapy Upon Anatomical Correlation of Abdominal Aorta and Renal Artery / 中国循环杂志

Objective: To evaluate the impact of renal artery stenting techniques upon anatomical correlation of abdominal aorta and renal artery. Methods: A total of 182 patients with unilateral atherosclerotic renal stenosis and received renal artery stenting in our hospital from 2012-01 to 2013-12 were retrospective studied. Based on the angle of infrarenal abdominal aorta and renal artery, the patients were divided into 3 groups: Group A (91-120)°, n=20, Group B (61-90)°, n=125 and Group C, (30-60)°, n=37. According to the tortuosity of infrarenal abdominal aorta and/or iliac artery, the patients were divided into 2 groups: Non-tortuosity group, n=146 and Tortuosity group, n=36. Operative techniques included in ①wire anchoring alone, ②wire anchoring+balloon rod assisting and③anchoring with wire and balloon. The ratio of upper extremity artery approaching (brachial or radial artery), X-ray exposure time, operation time, contrast dosage and relevant complications were compared among different groups upon stent placing. Results: Compared with Group A and Group B, the following parameters were increased in Group C: ratios for using technique ② + ③ (100.0% vs 20.0%, 31.2%), for extremity artery approaching (10.8% vs 0.0%, 1.6%); X-ray exposure time (9.2±3.8) min vs (5.2±3.1) min, (5.3±2.8) min, operation time (27.4±6.5) min vs (18.6±5.7) min, (20.5±6.1) min; contrast dosage (59.3±8.4) ml vs (44.8±7.2) ml, (48.4±7.3) ml and the incidences of relevant complications (8.1% vs 0.0%, 0.8%), all P<0.05. The above parameter were similar between Group A and Group B. Compared with Non-tortuosity group, the following parameters were elevated in Tortuosity group: ratios for using technique ②+③ (72.2% vs 11.6%), for extremity artery approaching (11.1% vs 1.4%), the total incidences of X-ray exposure time, operation time, contrast dosage and relevant complications (8.3% vs 0.7%), all P<0.05. Conclusion: The acute angle of infrarenal abdominal aorta and renal artery as well as the tortuosity of infrarenal abdominal aorta may increase the difficulty in renal artery interventional therapy .

Safety and Feasibility Assessment for Treating Severe External Carotid Artery Stenosis and Ipsilateral Internal Carotid Artery Occlusion by External Carotid Artery Stenting / 中国循环杂志

Objective: To assess the safety and feasibility for treating the patients with severe external carotid artery (ECA) stenosis and ipsilateral internalcarotid artery (ICA)occlusion by external carotid artery steting (ECAS). Methods: A total of 17 consecutive patients with severe ECA stenosis and ipsilateral ICA occlusion treated in our hospital by ECAS from 2008-01 to 2013-06 were retrospectively studied. Post-operative improvements of cerebral ischemia and neurocognitive function [Mini-mental state examination (MMSE) and Montreal cognitive assessment (MOCA)] were evaluated, complications at peri-operative and 12 months follow-up period were recorded. Results: The patients' mean age was (65.4±8.0) years including 13(76.5％) male. The success rate of ECAS was 100％;2 patients had hemodynamic depression at peri-operative period and were completely recovered by 2 days treatment.1 patient suffered from contralateral minor stroke at 12 months follow-up time, the other 16 patients were without cerebral ischemia symptoms. No complication occurred at peri-operative and 12 months follow-up period. Compared with pre-operative condition, MMSE score [(25.1±1.4) vs (23.3±1.8), P<0.01] and MOCA score [(23.9±1.2) vs (22.2±1.6), P<0.01] were increased at 3 months after ECAS; both scores were continuously increasing during 12 months follow-up period. Conclusion: ECAS may improve cerebral ischemia and cognitive function in patients with severe ECA stenosis and ipsilateral ICA occlusion.

Single Nucleotide Polymorphism rs10919543 in FCGR2A/FCGR3A Region Confers Susceptibility to Takayasu Arteritis in Chinese Population / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Takayasu arteritis (TA) is a rare inflammatory arteriopathy of unknown etiology. The aim of this study was to investigate the genetic susceptibility to TA in a Chinese population.</p><p><b>METHODS</b>Four single nucleotide polymorphisms (SNPs) those locate in the IL12B region (rs56167332), the MLX region (rs665268), the FCGR2A/FCGR3A locus (rs10919543), and the HLA-B/MICA locus (rs12524487), associated with TA in different population, were genotyped in 123 Chinese TA patients and 147 healthy controls from January 2013 to August 2014. A Chi-square test was used to test for genotype/allele frequencies variants.</p><p><b>RESULTS</b>Among the four SNPs, rs10919543 was found to be significantly associated with TA in the studied population. The GG genotype of rs10919543 at the FCGR2A/FCGR3A locus is a high risk factor (odds ratio [OR] = 6.532, 95% confidence interval [CI] = 2.402 - 17.763, P < 0.001) for TA. Among TA patients, the level of eosinophil granulocytes (Eos) in the peripheral blood was observed to be higher in the GG group of rs10919543 (n = 23, Eos = 0.11 [0.08, 0.17] ×109/L) than the GA + AA group (n = 100, Eos = 0.08 [0.05, 0.13] ×109/L, P = 0.028). No correlation between the genotypes of the other three SNPs and TA patients was observed.</p><p><b>CONCLUSIONS</b>Our findings revealed unique genetic pattern in Chinese TA patients that may be partly responsible for the higher risk of TA in this population. FCGR2A/FCGR3A-related immune disorder might contribute to the etiology of TA.</p>

Prevalence and risk factors for left ventricular hypertrophy and left ventricular geometric abnormality in the patients with hypertension among Han Chinese / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Left ventricular hypertrophy (LVH) and geometric abnormality are associated with morbidity and mortality of cardiovascular disease and stroke. Hypertension is the major cause of LVH. Yet the prevalence and other risk factors of LVH and geometric abnormality in Chinese hypertensive population are unknown. The objective of this study was to investigate the prevalence and risk factors of LVH and geometric abnormality in community-based Chinese hypertensive population.</p><p><b>METHODS</b>The study was a community-based cross-sectional study, and comprised 4270 hypertension patients with integrated clinical and echocardiographic data. Left ventricular mass was measured by transthoracic echocardiography. LVH was diagnosed by using the criteria of over 49.2 g/m(2.7) for men and 46.7 g/m(2.7) for women. LV geometric patterns (normal, concentric remodeling, concentric or eccentric hypertrophy) were calculated according to LVH and relative wall thickness. Logistic regression model was used to determine the odds ratio (OR) and 95% confidence intervals (CI) of the risk factors of LVH.</p><p><b>RESULTS</b>The prevalence of LVH was 42.7% in 4270 hypertensive patients, with 37.4% in males and 45.4% in females, respectively. The prevalence of concentric remodeling, concentric or eccentric hypertrophy was 24.7%, 20.2%, and 22.6%, respectively. In Logistic regression model, female (OR 1.3, 95%CI 1.1 - 1.5, P < 0.01), age (OR 1.02, 95%CI 1.01 - 1.03, P < 0.01), body mass index (OR 1.2, 95%CI 1.15 - 1.20, P < 0.01), systolic blood pressure (OR 1.02, 95%CI 1.01 - 1.03, P < 0.01), and serum triglyceride (OR 1.10, 95% CI 1.00 - 1.20, P < 0.01) were risk factors of LVH. Female, age, body mass index, systolic blood pressure and serum triglyceride were also risk factors of left ventricular geometric abnormality.</p><p><b>CONCLUSIONS</b>The echocardiographic LVH is the major complication of patients with hypertension in rural area of China, especially for women. To effectively treat hypertension, weight loss and control of serum triglyceride may help to prevent LVH in hypertensive population.</p>

Comparison of clinical characteristics of Chinese patients with apical hypertrophic cardiomyopathy and typical hypertrophic cardiomyopathy / 中华心血管病杂志

<p><b>OBJECTIVE</b>To evaluate the clinical features in Chinese patients with apical hypertrophic cardiomyopathy (AHCM) and typical hypertrophic cardiomyopathy (HCM).</p><p><b>METHODS</b>This retrospective analysis included 160 patients hospitalized in Fuwai hospital. Patients were divided into three groups: apical hypertrophic cardiomyopathy (AHCM, n = 41) group, non-obstructive typical hypertrophic cardiomyopathy group [NOHCM, LVOT < 30 mm Hg (1 mm Hg = 0.133 kPa) at rest, n = 52] and obstructive typical hypertrophic cardiomyopathy (OHCM, LVOT ≥ 30 mm Hg at rest, n = 67). Clinical features, diagnosis, therapy, and plasma levels of biomarkers of these three groups were analyzed.</p><p><b>RESULTS</b>(1) The age at disease onset was older in AHCM group than in OHCM group [(49.9 ± 13.6) years vs. (41.4 ± 14.6) years, P < 0.01]. Exertional dyspnea appeared more often in HCM patients than in AHCM patients, NT-proBNP level was significantly lower in AHCM patients than in OHCM patients (P = 0.001). Plasma CK-MB, LDH, TnI and MYO levels were similar among the three groups. (2) Thirty-three AHCM patients were first hospitalized for suspected coronary heart disease (CHD) and CHD was excluded in 18 cases (43.9%). (3) The frequency of giant negative T waves (depth ≥ 10 mm) on ECG was 43.9%, 13.5% and 4.4% (P < 0.01) in AHCM, NOHCM and OHCM respectively. Half of AHCM patients showed left ventricular high voltage on ECG. (4) Cardiac magnetic resonance imaging is superior to echocardiography on correctly diagnosing AHCM.</p><p><b>CONCLUSION</b>AHCM patients differ from typical OHCM patients in clinical characteristics. There were significant differences on echocardiography and electrocardiography features among three groups. Cardiac magnetic resonance imaging and giant negative T waves on ECG are helpful for the diagnosis of AHCM.</p>

A novel hot-spot mutation S236G in the cardiac myosin binding protein C gene in Chinese patient with hypertrophic cardiomyopathy / 中华心血管病杂志

<p><b>OBJECTIVE</b>To identify the disease-causing gene mutations and to reveal the relationship between the genotype and the phenotype in Chinese patients with hypertrophic cardiomyopathy (HCM).</p><p><b>METHODS</b>One hundred unrelated patients with HCM and 120 controls were enrolled in this study. The full encoding exons and flanking sequences of the cardiac myosin binding protein C gene (MYBPC3) were amplified with PCR and the products were sequenced.</p><p><b>RESULTS</b>A novel missense mutation c.706T > C was identified in exon 6 of MYBPC3 gene in three HCM patients, which resulted a Serine (S) to Glycine (G) exchange at amino acid residue 236 (S236G). The clinical phenotypes of the three patients were different (2 obstructive HCM, 1 non-obstructive HCM). The 120 controls were normal in the genetic test.</p><p><b>CONCLUSIONS</b>The novel S236G mutation in MYBPC3 gene was a hot-spot mutation in Chinese patients with HCM.</p>

The genotype-phenotype correlation of MYH7 gene G15391A mutation and MYBPC3 gene G12101A mutation in familial hypertrophic cardiomyopathy / 中华心血管病杂志

<p><b>OBJECTIVE</b>To reveal genotype-phenotype correlation of disease-causing gene mutations in Chinese hypertrophic cardiomyopathy (HCM) pedigree.</p><p><b>METHODS</b>Peripheral venous blood samples were collected from two Chinese HCM families and 120 healthy subjects were recruited as normal control. The full encoding exons and flanking sequences of the cardiac troponin T gene (TNNT2), beta-myosin heavy chain gene (MYH7) and myosin binding protein C gene (MYBPC3) were amplified with the polymerase chain reaction method, DNA sequencing was used to detect the mutation.</p><p><b>RESULTS</b>In ZZJ family, mutation G12101A was identified in exon 21 of MYBPC3 gene in 4 family members [the arginine (R) converted to histidine (H)]. In this pedigree, three out of eight family members were diagnosed as HCM and with a penetrance of 75%. In FHL family, mutation G15391A was identified in exon 23 of MYH7 gene in 3 family members [the glutamic acid (E) converted to lysine (K)]. In this pedigree, three out of six family members were diagnosed as HCM and with a penetrance of 100%. Echocardiography showed obstruction of left ventricular outflow tract in two out of the three HCM patients.</p><p><b>CONCLUSIONS</b>Our results showed that the G12101A mutation of MYBPC3 gene is the causal mutation of familial HCM with mild phenotype. The G15391A mutation of MYH7 gene is the causal mutation of familial HCM with malignant phenotype and a penetrance of 100%. Screening mutations in the MYH7 gene should be viewed as a reasonable procedure in obstructive HCM patients.</p>

Polymorphisms of angiotensin-converting enzyme 2 gene associated with magnitude of left ventricular hypertrophy in male patients with hypertrophic cardiomyopathy / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Even carrying an identical gene mutation, inter- and intra-family variations have been noticed worldwide in the presence and the severity of left ventricular hypertrophy and sudden death in patients with hypertrophic cardiomyopathy (HCM). Modifier genes may contribute to the diversity. Angiotensin-converting enzyme 2 (ACE2) gene has been established to be associated with parameters of left ventricular hypertrophy in community based male subjects. The objective of the present study was to investigate the association of ACE2 gene polymorphisms with the phenotype of HCM.</p><p><b>METHODS</b>A total of 261 consecutive HCM patients and 609 healthy controls were enrolled into this study. The polymorphism of rs2106809 and rs6632677 were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and confirmed by sequencing. Logistic regression model and multivariate analysis were used to determine the odds ratio (OR) and 95% confidence intervals (CI) of variations of ACE2 for HCM.</p><p><b>RESULTS</b>The T allele of rs2106809 and C allele of rs6632677 conferred increasing risk for HCM (OR 1.34, 95% CI 1.01 - 1.77, P = 0.04; OR 1.11, 95% CI 1.03 - 1.21, P = 0.002, respectively), and the 2 single nucleotide polymorphisms (SNPs) were in strong linkage disequilibrium (LD), the TC haplotype was independently associated with a higher OR for HCM (OR = 1.59, 95% CI 1.21 - 1.87) after adjusted for conventional risk factors. And the risk alleles were associated with thicker interventricular septal thickness of HCM ((20.0 +/- 6.3) mm vs (17.9 +/- 5.5) mm, P = 0.03 and (21.3 +/- 5.9) mm vs (17.9 +/- 5.8) mm, P = 0.04, respectively). No association was found between the two polymorphisms with female patients with HCM.</p><p><b>CONCLUSION</b>Minor alleles of ACE2 gene might be the genetic modifier for the magnitude of left ventricular hypertrophy in male patients with HCM.</p>

Clinical features of dilated cardiomyopathy-like hypertrophic cardiomyopathy caused by a 13261 G > A mutation in cardiac myosin-binding protein C gene / 中华心血管病杂志

<p><b>OBJECTIVE</b>To study the disease-causing gene mutation in Chinese patients with hypertrophic cardiomyopathy (HCM) and to analyze the genotype and phenotype correlation.</p><p><b>METHODS</b>One family (n = 27) affected with HCM were chosen for the study. The full encoding exons and flanking sequences of beta-myosin heavy chain gene (MYH7) and cardiac myosin-binding protein C gene (MYBPC3) were amplified with PCR and the products were sequenced. The clinical data including symptom, physical, echocardiography and electrocardiography examinations were collected.</p><p><b>RESULTS</b>We identified a 13261 G > A mutation, which causes a missense mutation (G758D) in exon 23 of MYBPC3 in 9 family members. One mutation carrier suffered from dilated cardiomyopathy (DCM) with asymmetric interventricular septal hypertrophy (14 mm). Another mutation carrier was diagnosed as HCM.</p><p><b>CONCLUSIONS</b>The 13261 G > A mutation is associated with a DCM-like HCM and HCM phenotype in this Chinese family affected with HCM.</p>

Familiar hypertrophic cardiomyopathy caused by a IVS15-1G > A mutation in cardiac myosin-binding protein C gene / 中华心血管病杂志

<p><b>OBJECTIVE</b>To detect the disease-causing gene mutation of hypertrophic cardiomyopathy (HCM) in a Chinese family and to analyze the correlation of the genotype and the phenotype.</p><p><b>METHODS</b>One family affected with HCM was studied. The clinical data including symptom, physical examination, echocardiography and electrocardiography were collected. The full encoding exons and flanking sequences of beta-myosin heavy chain gene (MYH7) and cardiac myosin-binding protein C gene (MYBPC3) were amplified with PCR and the products were sequenced.</p><p><b>RESULTS</b>A G8887A mutation, which is an acceptor splicing site of intron 15 (IVS15-1G > A) in MYBPC3 (gi: Y10129) was identified in 6 out of 11 family members. Three mutation carriers developed HCM at 48 - 75 years old with mild chest pain, chest distress and asymmetric septal hypertrophy (13 - 14 mm) and remaining mutation carriers are free of HCM. No mutation was identified in MYH7 gene.</p><p><b>CONCLUSION</b>HCM caused by the IVS15-1G > A mutation is a benign phenotype. It is helpful to screen MYBPC3 gene mutation in late-onset HCM patients with mild symptoms.</p>

A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy / 中华心血管病杂志

<p><b>OBJECTIVE</b>To examine the function of the novel mutation E82K in LMNA gene identified in a Chinese family infected by dilated cardiomyopathy.</p><p><b>METHODS</b>(1) One Chinese family infected by dilated cardiomyopathy was chosen for the study. Exons 1-12 of the LMNA gene were screened with both PCR method and the cycle sequencing of the PCR products. (2) cDNA of the E82K mutation or wild type of LMNA gene was transfected into HEK293 cells and the apoptosis of the cells was detected after treatment with 0.8 mmol/L H2O2.</p><p><b>RESULTS</b>(1) A new mutation E82K in LMNA gene was identified in this dilated cardiomyopathy family. (2) Apoptosis was more in the HEK293 cells transfected with E82K mutation than those with empty vector or wild type LMNA gene.</p><p><b>CONCLUSIONS</b>The missense mutation E82K in LMNA gene changed the polar of the amino acid. It showed a malignant phenotype of severe clinical symptoms, early onset, poor survival prognosis and might be associated with atrioventricular conduction block (II degrees-III degrees), suggesting that the E82K mutation in LMNA gene may be a candidate for nosogenesis of dilated cardiomyopathy.</p>