35岁以下青年急性心肌梗塞患者临床特点分析

目的：探讨急性心肌梗塞（AMI）青年患者的临床特点,为其早期诊治提供决策依据。方法：选择近10年来住院的117例35岁以下AMI患者资料,并以同期住院的355例65岁以上AMI老年患者作对照,对比分析其病史、临床、用药及冠脉造影资料。结果：青年AMI患者中,吸烟（66.7%）、男（96.6%）、有家族史（30.0%）、ST段抬高（69.2%）、前壁AMI（43.6%）显著多于老年组（P均〈0.05）。青年组低密度脂蛋白-胆固醇（LDL-C）水平较老年组明显升高[（2.93±1.48）mmol/L∶（2.35±1.21）mmol/L,P〈0.05]。超声心动图结果显示,青年组AMI后左室射血分数（LVEF）较老年组有明显提高[（59.82±10.86）%∶（48.31±12.48）%,P〈0.05]。冠脉造影结果显示,青年组最显著特点是大多数为单支（66.7%）、左前降支病变（69.3%）,且其冠脉痉挛发生率较老年组显著提高（6.8%∶0.56%,P均〈0.05）。青年组在AMI后的院内死亡率（2.6%∶8.7%）及主要不良心血管事件发生率：1个月（3.4%∶11.2%）和12个月（14.5%∶24.8%）均明显好于老年组（P均〈0.05）。结论：35岁以下青年急性心肌梗塞患者吸烟、血脂代谢异常、家族史是主要危险因素。应在青年人群中宣传并指导戒烟,改变不良生活方式,做好早期预防,以降低青年人急性心肌梗塞发病。     

Prevalence of factor V Leiden and prothrombin G20210A mutations in unselected patients with venous thromboembolism

We determined the prevalence of factor V Leiden and of prothrombin G20210A mutations in a cohort of unselected outpatients (n = 748) referred for suspected deep vein thrombosis (DVT) and/or pulmonary embolism (PE) and a pooled analysis of similar studies was also performed. Based on the clinical presentation, the prevalence of factor V Leiden was 15.7% in the 83 patients with DVT and 14.1% in the 99 patients with PE compared with 5.3% in patients without DVT and/or PE (control group). The prevalence of the prothrombin G20210A mutation did not differ among the three groups (3.9% for controls, 4. 8% for DVT and 3.9% for PE patients). We then divided the 99 patients with PE by separately analysing those with PE but without DVT (n = 57) and those with PE and DVT (n = 42). Compared with the control group, the prevalence of factor V Leiden was 10.5%, odds ratio (OR) 2.10 [95% confidence interval (95% CI) 0.68-5.45] in patients with primary PE and 19.1%, OR 4.20 (95% CI 1.54-10.30) in patients with DVT and PE. For the prothrombin G20210A mutation, no statistically significant differences were found between the control group and the three other groups. In conclusion, our data and the pooled analysis indicate that patients with primary PE are less often affected by the factor V Leiden mutation. No statistically significant differences were observed between patients and controls for the prothrombin G20210A mutation.     

Retinal artery occlusion in a patient with factor V Leiden and prothrombin G20210A mutations.

Retinal artery occlusion is rare in young adults, and may be associated with hereditary thrombophilia. We present a 19-year-old male who was evaluated for central retinal artery occlusion and found to be homozygous for the factor V Leiden mutation and heterozygous for the prothrombin G20210A mutation. Anterior chamber paracenthesis resulted in dramatic improvement, but recurring loss of vision necessitated repeated paracenthesis and the addition of aspirin to standard anticoagulation treatment. The literature concerning hereditary thrombophilia and retinal artery occlusion is reviewed, and the synergistic effect of multiple risk factors is emphasized. Screening for hereditary thrombophilia should be considered for young people presenting with unexplained retinal artery occlusion.     

Purpura fulminans in a child with combined heterozygous prothrombin G20210A and factor V Leiden mutations

Although thrombosis is relatively rare in children, reports of young patients with thrombosis are becoming more frequent with time. Activated protein C resistance and prothrombin 20210 A mutation are results of point mutations described in the last decade. This article highlights a case of a child with severe arterial thrombosis who was heterozygous for the factor V Leiden (FVL) and prothrombin G20210A mutations. The patient diagnosed with purpura fulminans was an 8-year-old boy who was referred to our hospital with purpuric lesions on the extremities and necrosis of the penis. We believe that the coexistence of more than one thrombophilic mutation contributed to the occurrence of severe thrombosis at a young age in this patient.     

Prevalence of factor V Leiden and prothrombin G20210A in patients with gastric cancer

AIM: To analyze the prevalence of the two commonest thrombophilic mutations, factor V Leiden and prothrom-bin G20210A, in patients with gastric cancer. METHODS: One hundred and twenty-one patients with primary gastric carcinoma and 130 healthy subjects, comparable for age and sex, were investigated. Factor V Leiden was detected by using polymerase chain reaction and restriction enzyme digestion, and prothrombin G20210A gene mutation by allele-specific PCR. RESULTS: Among the 121 cancer patients, factor V Leiden was found in 4 cases (GA genotype: 3.3%) and prothrombin G20210A in 10 cases (GA genotype: 8.3%). Of the 130 control subjects, factor V Leiden was detected in 6 cases (GA genotype: 4.6%) and prothrombin G20210A in 8 cases (GA genotype: 6.1%). No double heterozygous carriers of both mutations were found in either group. The prevalence of both factor V Leiden and prothrombin G20210A variant was not statistically different between the cancer patients and the healthy subjects. CONCLUSION: Our study suggests that, in gastric cancer, the risk factors of thrombophilic cancer state are on acquired rather than on a genetic basis and that prothrombin G20210A does not seem to be a cofactor in gastric cancer pathogenesis.     

Prevalence of factor V Leiden and prothrombin G20210A mutations in Chinese patients with deep venous thrombosis and pulmonary embolism

Venous thromboembolism (VTE) is a common vascular disease that results in two major clinical manifestations: deep venous thrombosis (DVT) and pulmonary embolism (PE). Several genetic risk factors, especially factor V Leiden and prothrombin G20210A mutations have been reported to be related to VTE in Caucasians, but the relationship remains controversial in other populations. Thus, the objective of the present study was to compare the frequency of the two mutations and also to investigate whether acquired risk factors other than genetic mutations may play a different role in Chinese VTE patients. Thirty-five patients were diagnosed with DVT concomitant PE, 178 patients with DVT, 54 patients with PE and 102 control subjects were recruited. The mutation was determined by the polymerase chain reaction-restriction fragment length polymorphism method. Of all subjects, none was a carrier of factor V Leiden or prothrombin G20210A mutations. The frequency of surgery was significantly higher in the PE group than that in other groups. There was no significant difference among the three groups in other known risk factors. The data presented here indicate that factor V Leiden and prothrombin G20210A mutations are very rare in the Chinese population, and the genetic risk profile of VTE in the Chinese population is different from that in Caucasians.     

Colorectal adenocarcinoma in patients less than 40 years old

Summary Carcinoma of the colorectum knows no age barrier. To date, more than 1,400 cases have been reported to occur in persons less than 40 years old. Our experience with 70 patients treated over a tenyear interval is reviewed. Signs and symptoms in the young are not distinctive. Diagnosis depends on a high index of suspicion and appropriate investigative procedures. Survival times are shorter in the patients who have mucinous and anaplastic tumors, and their incidences seem to be increased in this age segment. Overall survival does not significantly differ from our general experience (41 per cent, 5-year survival). Early diagnosis and prompt institution of aggressive surgical treatment can be expected to produce survival equivalent to that in patients of other ages. Read at the meeting of the American Society of Colon and Rectal Surgeons, San Francisco, California, May 4 to 8, 1975.     

Colorectal carcinoma in patients less than 40 years old

Summary Colonic and rectal carcinoma in patients less than 40 years of age is not rare. Indeed, these tumors are among the most common neoplasms seen in young adults. Any young patient who has abdominal pain, rectal bleeding, or change in bowel habits should be evaluated with this in mind. The large number of right-sided colonic lesions in the young should encourage the use of barium-enema studies in addition to sigmoidoscopy to evaluate these cases. Presenting symptoms may unfortunately be an indication of advanced disease. Although the low index of suspicion in this age group accounts for occasional delays, this was not a general feature and does not explain the poor results seen in these young patients. We have found a large number of patients with anaplastic and mucinous carcinomas and a predominance of Dukes' C and D lesions. This more aggressive behavior of colorectal carcinoma in patients less than 40 years old seems to account for the poor prognosis seen. Read at the meeting of the American Society of Colon and Rectal Surgeons, Orlando, Florida, May 8 to 12, 1977.     

Factor V Leiden and prothrombin G20210A mutations in Thai patients awaiting kidney transplant

Renal transplantation provides the best long-term treatment for chronic renal failure, but thrombosis of the transplanted renal artery or renal vein is one of the causes of kidney failure in the early postoperative period. Factor V Leiden (FVL) and prothrombin G20210A mutation are the most frequent genetic abnormalities associated with venous thrombosis. We investigated the prevalence of FVL and prothrombin G20210A by polymerase chain reaction with restriction fragment length polymorphism in 75 Thai patients awaiting renal transplant, and a control group of 106 healthy blood donors. Of those awaiting renal transplant, none was found to carry FVL or prothrombin G20210A mutations. Neither the heterozygous nor the homozygous FVL mutation nor the prothrombin G20210A mutation was detected in the 106 healthy volunteers. Although we failed to detect FVL and prothrombin G20210A mutation among those waiting for a kidney transplant, the population size was small. Further studies need to be performed in order to ascertain if these coagulation mutations are of relevance in predicting patients at risk of early transplant failure.     

Prevalence of factor V Leiden and prothrombin variant G20210A in patients age <50 years with no significant stenoses at angiography three to four weeks after myocardial infarction

OBJECTIVES: We sought to determine the frequencies of factor V Leiden and prothrombin variant G20210A in patients age <50 years with no significant coronary stenoses three to four weeks after myocardial infarction (MI). BACKGROUND: Factor V Leiden and prothrombin variant G20210A occur frequently in patients with venous thromboembolism. However, the contribution of these mutations to the development of MI requires clarification. METHODS: The frequencies of factor V Leiden and prothrombin variant G20210A were determined in 41 patients age <50 years who had "normal" or "near normal" coronary arteries (no stenosis >50%) at angiography three to four weeks after MI (the study group) and compared with those in 114 patients who had at least one angiographic stenosis >50% after MI (the control group). Patients age > or =50 years with, or without, stenoses were also studied. RESULTS: The frequency of factor V Leiden was 14.6% in patients age <50 years in the study group compared with 3.6% in patients in the control group (odds ratio [OR] 4.7 [95% confidence interval (CI) 1.3-17.7], p = 0.02). The frequency of the prothrombin variant G20210A was 7.3% in the study group compared with 1.8% in the control group (OR 4.4 [95% CI 0.7-27.5], p = 0.12). One or both mutations were present in 8 of the 41 patients (19.5%) age <50 years in the study group compared with 6 of the 114 patients (5.5%) in the control group (OR 4.4 [95% CI 1.4-13.5], p = 0.01). In all 271 patients (irrespective of age) with normal arteries, the frequency of factor V Leiden was 11.7% (7/60) compared with 4.3% (9/211) in patients with at least one >50% stenosis (OR 2.9 [95% CI 1.1-8.3], p = 0.04), and the frequency of prothrombin variant G20210A was 6.7% (4/60) compared with 1.4% (3/211) (OR 4.9 [95% CI 1.1-22.8], p = 0.04), respectively. CONCLUSIONS: The frequencies of factor V Leiden and/or prothrombin variant G20210A are increased in patients age <50 years with normal or near normal coronary arteries after MI.     

An overview of methods for detection of factor V Leiden and the prothrombin G20210A mutations

Venous thromboembolism, represented by deep venous thrombosis and pulmonary embolism, is a common disease with high mortality and morbidity. Within the last 25 years, risk factors for venous thromboembolism have been linked to mutations in the genes of the coagulation/anticoagulation system. Factor V Leiden and the prothrombin G20210A mutations are the most prevalent inherited risk factors predisposing to venous thromboembolism in the Western world. Tests to detect these mutations are carried out when investigating a personal or family history of venous thromboembolism. At the present, there are several different methods available for the detection of these mutations in the laboratory. The choice of the method will depend on many variables. This article is aimed at reviewing the available methods for the detection of factor V Leiden and prothrombin G20210A mutations, their principle, applicability, advantages and disadvantages of use.     

Exercise testing soon after myocardial infarction: its relation to course and outcome at one year in patients aged less than 55 years

A consecutive series of 184 patients aged less than 55 years who had an acute myocardial infarction were enrolled in a study to examine outcome at one year. One hundred of these patients underwent a maximal exercise test six weeks after infarction to evaluate its ability to predict cardiac events. The in-hospital mortality for the series was 7.6% (14 deaths) and the one year mortality for the 170 survivors was 3.8% (seven deaths). During the exercise test 31 patients had angina and 21 had ST depression. During the one year follow up period 39 of 100 patients had angina on exertion, 15 patients underwent coronary artery surgery, three patients had a reinfarction, and one patient died. Angina during the exercise test but not ST segment depression during the exercise test predicted angina on exertion and the need for coronary artery surgery. In the year of follow up angina occurred during everyday exertion in 25 (81%) (95% confidence interval 62 to 92%) of the 31 patients who developed angina during the exercise test and in only 14 (20%) (95% confidence interval 12 to 32%) of 69 patients who did not, and coronary artery surgery was performed in 11 (35%) (95% confidence interval 19 to 54%) of the 31 patients with angina during the exercise test and only four (6%) (95% confidence interval 2 to 15%) of 69 patients without angina. The outcome after myocardial infarction in patients aged less than 55 years was good and the occurrence of angina, but not ST segment depression, during a maximal exercise test six weeks after infarction was an indication for further investigation.     

小于30岁青年人急性心肌梗死临床和冠脉造影特点分析

目的：探讨小于30岁青年急性心肌梗死（AMI）患者的临床及冠状动脉造影特点。方法：选择我院2004年至2012年收治的小于30岁 AMI患者41例为青年组,随机选择同期大于50岁 AMI患者360例为中老年组,比较两组患者的临床特征及冠脉造影结果。结果：与中老年组比较,青年组男性（68.1％比97.6％）,吸烟（50.6％比80.5％）、高胆固醇血症（59.2％比65.9％）比例及人体质量指数[（22.3±6.6）kg/m^2比（26.3±9.6）kg/m^2]明显升高;高血压（63.1％比24.4％）、糖尿病（30.6％比4.9％）比例明显较低（P＜0.05或＜0.01）;发病诱因中,青年组紧张、焦虑等心理因素（29.3％比3.6％）和熬夜（39.0％比2.8％）、大量饮酒（14.6％比4.7％）比例显著高于中老年组,而中老年组情绪激动（8.3％比0）,比例显著高于青年组（P＜0.05或＜0.01）。青年组冠脉造影结果以单支病变为主（56.1％）,且多为 A （53.7％）、B1型（29.3％）病变,中老年组以多支病变为主（48.1％）,且多为B2（29.7％）、C型（33.9％）病变（P＜0.05或＜0.01）。结论：吸烟、肥胖、高脂血症是小于30岁青年急性心肌梗死患者最重要危险因素;熬夜、饮酒和心理压力大等为青年 AMI患者主要诱因;冠脉病变以单支病变、A、B1型简单病变为主。     

Exercise testing soon after myocardial infarction: its relation to course and outcome at one year in patients aged less than 55 years.

A consecutive series of 184 patients aged less than 55 years who had an acute myocardial infarction were enrolled in a study to examine outcome at one year. One hundred of these patients underwent a maximal exercise test six weeks after infarction to evaluate its ability to predict cardiac events. The in-hospital mortality for the series was 7.6% (14 deaths) and the one year mortality for the 170 survivors was 3.8% (seven deaths). During the exercise test 31 patients had angina and 21 had ST depression. During the one year follow up period 39 of 100 patients had angina on exertion, 15 patients underwent coronary artery surgery, three patients had a reinfarction, and one patient died. Angina during the exercise test but not ST segment depression during the exercise test predicted angina on exertion and the need for coronary artery surgery. In the year of follow up angina occurred during everyday exertion in 25 (81%) (95% confidence interval 62 to 92%) of the 31 patients who developed angina during the exercise test and in only 14 (20%) (95% confidence interval 12 to 32%) of 69 patients who did not, and coronary artery surgery was performed in 11 (35%) (95% confidence interval 19 to 54%) of the 31 patients with angina during the exercise test and only four (6%) (95% confidence interval 2 to 15%) of 69 patients without angina. The outcome after myocardial infarction in patients aged less than 55 years was good and the occurrence of angina, but not ST segment depression, during a maximal exercise test six weeks after infarction was an indication for further investigation.     

The impact of heterozygosity for the factor V Leiden and factor II G20210A mutations on the risk of thrombosis in Greek patients.

AIM: There is growing evidence that a number of genetic risk factors predispose independently to venous thrombosis and the coexistence of defective genes is involved in the manifestation and recurrence of thrombotic events. The goal of this study was to examine the efficiency of the selection criteria for performing a genetic test for the factor V G1691A (Leiden) and factor II G20210A mutations. METHODS: Blood samples were drawn from 119 patients referred to us by their physicians. FV and prothrombin (FII) mutations were detected by polymerase chain reaction (PCR) followed by digestion with restriction endonucleases MnlI (FV), HindIII and MspI (FII). RESULTS: Patient carrier frequencies were 16.8% and 10.08% for FV Leiden and FII G20210A, respectively. Heterozygosity for FII G20210A was observed in 10.0% of FV Leiden carriers whereas FV Leiden homozygosity was noted in 1.68% of the patients. Genotype frequencies were in conformity with Hardy-Weinberg equilibrium by the chi square goodness of fit test. CONCLUSION: The obtained data provided a substantial genetic explanation of the thrombotic phenotype in approximately 25% of the patients and thus the physicians selection criteria were sufficient for genetic testing. Furthermore, coinheritance of both genetic defects were significantly associated with increased thrombosis risk and that of recurrent thrombosis.     

Prospective study of patients aged 55 years or less with acute myocardial infarction between 1981 and 1985: outcome 7 years and beyond.

OBJECTIVE--To determine the long-term prognosis of patients after a myocardial infarction (MI) at a young age. DESIGN--Prospective cohort study of patients aged 55 years or less suffering a myocardial infarction. SETTING--A single coronary care unit admitting patients from the community. PATIENTS--255 consecutive patients (210 men) aged 55 years or less admitted between 1981 and 1985 after acute MI. Twenty four patients died in hospital or within 3 months of infarction and 11 were lost to further follow up after discharge. Of the remaining patients, 150 (mean (SD) age 48 (5.7) years) able to exercise 3 weeks after infarction and who agreed to undergo coronary angiography were recruited to a study group and seen 18 months, and 3, 5, and 7 years after MI. In addition, a cross sectional analysis of survival was made to a median of 120 months. Seventy 3 month survivors (mean (SD) age 48 (5.8) years) were not recruited to the study group but were traced for late survival through their general practitioners and family health service associations to a median of 130 months. MAIN OUTCOME MEASURES--Survival in young patients after MI and the survival of 3 month survivors stratified by their ability to exercise and agreement to undergo angiography. The rate of coronary artery surgery (CAGB) and reinfarction during the first 7 years after index MI in patients recruited to the study group. RESULTS--Sixteen patients (6%) died in hospital and eight (3%) within 3 months of the index infarction. The 7 and 11 year survival rates in the whole cohort of 255 patients were 80% and 66% respectively using life table methods. Survival 7 years after MI, in patients recruited to the study group was better than in those not recruited (93% v 79%, P = 0.001), but thereafter mortality in the study group accelerated and there was no significant difference in survival 11 years after infarction (76% v 67%, P = 0.05). There was a trend towards higher mortality in patients with multivessel disease and severely impaired left ventricular function. During the first 7 years after MI, 38 of 150 patients in the study group underwent CABG and 19 suffered reinfarction, which was fatal in three. CONCLUSION--The medium-term prognosis of young survivors of MI is good, particularly in patients recruited to the study group. After 7 years there is an increase in mortality and the long-term prognosis is less favourable. This should be taken into account when planning future management and follow up of young patients after MI.     

Outcome of Patients with Venous Thromboembolism and Factor V Leiden or Prothrombin 20210 Carrier Mutations During the Course of Anticoagulation

Background

Individuals with factor V Leiden or prothrombin G20210A mutations are at a higher risk to develop venous thromboembolism. However, the influence of these polymorphisms on patient outcome during anticoagulant therapy has not been consistently explored.

Prevalence of resistance against activated protein C resulting from factor V Leiden is significantly increased in myocardial infarction: investigation of 507 patients with myocardial infarction

Background

A point mutation in the gene encoding coagulation factor V is a cause of resistance against activated protein C. The presence of factor V Leiden is linked to 50% of congenital defects causing venous thrombosis. Its relationship to arterial thrombosis, particularly to myocardial infarction, has not been defined. Therefore, we performed a study on the role of factor V Leiden in patients with myocardial infarction. The study was carried out in Bavarians of German origin, a relatively homogeneous population.

Methods and results

The study group consisted of 507 patients with documented myocardial infarction (77.5% (393/507) men, 22.5% (114/507) women), with a mean age of 56.1 (range 18--86) years. Strict criteria for patient selection and highly sensitive and specific functional tests for factor V Leiden were used. In addition, all patients with pathological test results were genotyped. The prevalence of factor V Leiden in patients with myocardial infarction was 8.7% (44/507), a significant increase in the prevalence of this mutation compared with the control group (3.7%, P = .0025). The odds ratio was 2.46 (95% CI 1.35-4.50).

Conclusions

A significantly increased prevalence of factor V Leiden in patients with documented myocardial infarction was seen. Patients with this mutation appear to have a predisposition for myocardial infarction.