Mutation and clinical relevance in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy / 中华心血管病杂志

<p><b>OBJECTIVE</b>To explore the genetic basis and phenotypic correlation with disease severity in a large cohort of Chinese patients with hypertrophic cardiomyopathy (HCM).</p><p><b>METHODS</b>A total of 179 unrelated Chinese HCM patients admitted to our department from 2002 to 2011 were enrolled in this study. Direct gene sequencing of β-myosin heavy chain (MYH7), myosin binding protein-C ( MYBPC3), and cardiac troponin T (TNNT2) were performed and clinical data were obtained in these patients.</p><p><b>RESULTS</b>A total of 34 mutations were identified in 40 patients (22.3%), 79.4% (27/34) mutations occurred only once and a possible hot spot, A26 in MYH7, was found. Distribution of mutations was 52.9% (18/34) (MYBPC3), 35.3% (12/34) ( MYH7) and 11.8% (4/34) (TNNT2) respectively. Double mutations were identified in 2.2% (4/179) patients. Genotype-positive patients were associated with an earlier symptom onset, severer left ventricular hypertrophy, a higher incidence of syncope, and were more likely to have positive family history of HCM or sudden cardiac death (SCD) , and were more likely to progress into heart failure (24.2% vs. 5.0%, P = 0.002) and at a higher risk of SCD (9.1% vs. 0, P = 0.009) during the 6.5-year follow-up. No statistical difference in any clinical parameters and outcomes was found between patients carrying MYBPC3 and MYH7 mutations. Double mutations were associated with malignant clinical progression in this cohort. Different phenotype severity could be seen in HCM patients with same genotype (e. g. MYH7-1736T, TNNT2-R92W).</p><p><b>CONCLUSION</b>MYBPC3 is the most predominant gene mutation in this HCM cohort. The presence of a sarcomere mutation in patients with HCM is associated with poor clinical outcome, although no specific genes or mutations can exactly predict the severity of clinical phenotypes.</p>

Effects of Electric Stimulations Applied during Absolute Refractory Period on Cardiac Function of Rabbits with Heart Failure / 华中科技大学学报（医学）（英德文版）

The effects of electric currents applied during absolute refractory period(ARP)on the cardiac function of rabbits with heart failure due to myocardial infarction(MI),and the safety of this method were investigated.Thirty rabbits were randomly assigned equally to 3 groups: sham-operated group,LV-anterior wall cardiac contractility modulation(LV-CCM)group,and septum-CCM(S-CCM)group.A thoracotomy was performed on all the rabbits.Electric pulses were delivered during the ARP on the anterior wall of left ventricle in CCM group and in the septum in S-CCM group,respectively.The left ventricular systolic pressure(LVSP)and maximum positive left ventricular pressure change(+dp/dtmax),heart rates,ventricular tachycardia,ventricular fibrillation were observed.It was found that,as compared with the baseline,LVSP,and+dp/dtmax were significantly increased,on average,by 15.2% and 19.5% in LV-CCM group(P<0.05),and by 8.5% and 10.8% in S-CCM group(P<0.05).LVEDP was significantly decreased and-dp/dtmax increased both in LV-CCM group and S-CCM group(P<0.05).CCM had no effect on heart rate and induced no arrhythmia in short time.It is concluded that electric currents delivered during the ARP could significantly enhance the contractility of myocardium safely,suggesting that CCM stimulation is a novel potent method for contractility modulation.

Prevalence, awareness, treatment & control of hypertension in rural Liaoning province, China.

BACKGROUND & OBJECTIVE: Hypertension is a major risk factor for cardiovascular and renal diseases. In PR China, the prevalence of hypertension has substantially increased during the past four decades. Information on prevalence as well as awareness regarding treatment and prevention of hypertension is scarce particularly in rural settings. The objective of this study was therefore to estimate the prevalence and distribution of hypertension and to determine the status of hypertension awareness, treatment, and control in the general rural adult population in northeast China. METHODS: During 2005--2007, in Liaoning province of northeast China a probability proportional to size sampling method was used to select a nationally representative sample. A total of 45,925 adults (aged > 35 yr) were examined. Three blood pressure measurements were obtained by trained observers using a standardized sphygmomanometer after a 5-minute sitting rest. Information on history of hypertension and use of antihypertensive medications was obtained. Hypertension was defined as a mean systolic blood pressure > 140 mm Hg, diastolic blood pressure > 90 mm Hg, and/or use of antihypertensive medications. RESULTS: Overall, 37.8 per cent of the rural adult population from northeast China aged 35 to 85 yr had hypertension. Among hypertensives, only 29.5 per cent were aware of their high blood pressure, 20.2 per cent were taking antihypertension medication and 0.9 per cent achieved blood pressure control (< 140/90 mm Hg). Of all subjects, 43.9 per cent did not think that high blood pressure would endanger their lives. The reasons why not taking antihypertensive medication in hypertensives aware of having hypertension was 40.2 per cent for their lack of knowledge about the fatalness of hypertension and 32.3 per cent for financial straits. INTERPRETATION & CONCLUSION: Our results indicated that hypertension is highly prevalent in rural areas of northeast China. The percentages of those with hypertension who were aware, treated and controlled were unacceptably low. These results underscore the urgent need to take comprehensive controlling measures and improve the awareness of hypertension at the same time to control hypertension in rural population of Liaoning province.

Gender differences in blood lipids and the risk of ischemic stroke among the hypertensive adults in rural China.

Background: Though large epidemiological studies have not established associations between blood lipids and ischemic stroke, increasing evidences have suggested that lipid-modifying agents may reduce cerebrovascular events. Aims: To determine whether blood lipids are risk factors for ischemic stroke among hypertensive rural adults in China. Settings and Design: A cross-sectional survey was conducted during 2004-2006, which underwent cluster multistage sampling to a hypertensive resident group in the countryside of China. Materials and Methods: A total of 6,412 individuals (2,805 men, 3,607 women) with age >/= 35 years were included. At baseline, lifestyle and other factors were obtained and blood lipids were assessed at a central study laboratory. Ischemic stroke was defined according to the criteria established by the National Survey of Stroke and all cases were further classified into lacunar infarction and other ischemic strokes. Statistical Analysis: Univariable and multivariable logistic regression were used. Results: In the univariable logistic regression model, LDL cholesterol (LDLc) in men and total cholesterol (TC), LDLc and TC-to-HDL cholesterol (TC: HDLc ratio) in women were risk factors for other ischemic strokes, with OR 1.42 (95% CI, 1.16-1.75), 1.31 (95% CI, 1.11-1.55), 1.47 (95% CI, 1.16-1.88) and 1.67 (95% CI, 1.28-2.14), respectively. After adjusting for independent variables, an increase in non-HDL cholesterol (non-HDLc) was associated with a significant increased risk of other ischemic strokes in women, with adjusted OR 1.45 (95% CI, 1.08-1.93). Conclusions: LDLc was the common risk factor for ischemic stroke in men and women, whereas Non-HDLc, TC and TC: HDLc ratio levels were related to ischemic stroke as risk factors only in women.