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1.
目的用超声心动图评价成年马凡氏综合征(Marfan syndrome,MFS)患者是否存在右心室收缩功能不全。方法41例MFS患者及43例正常对照者行M型、二维及组织多普勒超声心动图。记录三尖瓣环收缩期位移(tricuspid annular plane systolic excursion,TAPSE)、右心室面积缩小率(fractional are achange,FAC)及组织多普勒三尖瓣环收缩速度(S。)。结果MFS患者右心室收缩功能指标虽处于正常范围,但均低于正常对照[TAPSE:(21±2)mm口s.(26±1)mm,P〈O.01;FAC:36%±2%vs.42%±3%,P〈O.01;Su:(12±0.3)cm/svs.(16±0.9)cm/s,P〈0.01]。结论MFS患者存在右心室收缩功能不全,提示MFS可能累及右心室心肌。  相似文献   

2.
Objective: To investigate the presence of any regional myocardial deformation abnormalities in Marfan syndrome (MFS) and determine the benefits of using advanced echocardiography compared to conventional techniques. Background: Myocardial dysfunction in MFS may be caused by extracellular matrix remodeling thus, resulting in uniform reduced functionality. However, increased aortic stiffness may cause segmental ventricular abnormalities. Strain rate imaging (SRI) constitutes a validated technique to assess regional deformation in various clinical conditions. With this in mind, we aimed to investigate biventricular function in MFS using SRI. Methods: Forty‐four MFS patients (mean age 30 ± 12 years, 26 men) and 49 controls without valvular disease were examined using SRI. Ejection fraction (EF) was calculated by the Simpson's biplane method. Biventricular deformation was assessed by measuring strain/strain rate. Strain values were divided by left ventricular (LV) end‐diastolic volume to adjust LV deformation for geometry changes providing a strain index (SI). Aortic stiffness was evaluated using the β‐stiffness index. Results: EF (%) was reduced in MFS patients (59 ± 5 vs 72 ± 4, P < 0.001), whereas β‐stiffness was increased (P < 0.001). LV radial and LV and right ventricular (RV) long‐axis strain values (%) were reduced in the patient group (70 ± 17 vs 93 ± 10; 19 ± 2 vs 25 ± 2; 30 ± 9 vs 36 ± 8, respectively, P < 0.001). Strain rate measurements were also reduced (P < 0.001). In a multiple regression analysis, MFS diagnosis was negatively associated with LV SI (?0.262 [?0.306, ?0.219], P < 0.001). β‐Stiffness was negatively associated with SI obtained from the septum, inferior and anterior walls. ROC analyses demonstrated that SRI, when compared with conventional echocardiography, had higher sensitivity and specificity in predicting biventricular dysfunction in MFS. Conclusions: Our study showed a uniform reduction in biventricular deformation in MFS. These findings suggest that assessment of myocardial function using advanced echocardiographic techniques could be more accurate in MFS patient evaluation than conventional echocardiography alone. (Echocardiography 2011;28:416‐430)  相似文献   

3.
We treated a man with co-incident Marfan-like connective tissue disease with morphologic left ventricular non-compaction (LVNC). He underwent valve-sparing aortic root replacement because of aortic root dilation at 43 years old. Pathological findings of the aorta revealed cystic medio-necrosis, consistent with Marfan syndrome. He developed congestive heart failure caused by LVNC at 47 years old. His daughter had scoliosis, and he had several physical characteristics suggestive of Marfan syndrome. We herein report a rare case of a patient who had Marfan-like connective disease with an LVNC appearance.  相似文献   

4.
Background and Aims: In patients with chronic pressure overload due to hypertension or aortic valve stenosis (AS), higher left atrial systolic force (LASF) is associated with a high‐risk cardiovascular (CV) phenotype. We tested LASF as prognostic marker in patients with AS. Methods: We used baseline and outcome data from 1,566 patients recruited in the Simvastatin and Ezetimibe in AS (SEAS) study evaluating the effect of placebo‐controlled simvastatin and ezetimibe treatment on CV events. The primary outcome was a composite of major CV events, including CV death, aortic valve replacement, nonfatal myocardial infarction, hospitalization for unstable angina, heart failure caused by progression of AS, coronary artery bypass grafting, percutaneous coronary intervention, and nonhemorrhagic stroke. LASF was calculated by Manning's method. High LASF was defined as >95th percentile (50 Kdynes/cm2) of the distribution within the study population. Results: During 4.3 years of follow‐up, a major CV event occurred in 38 of 78 patients with high LASF (49%) and in 513 of 1,488 (34%) with normal LASF (P = 0.01). In multivariate Cox regression analysis, high LASF predicted higher rate of major CV events (Hazard ratio 1.43 [95% confidence interval 1.01–2.03] independent of aortic valve area and LV mass index. A simple risk score including absence or presence of these three variables allowed risk stratification into low, intermediate, high and very high risk for major CV events during follow‐up (22%, 28%, 38%, and 53%, respectively). Conclusions: Higher LASF provides additional prognostic information in patients with asymptomatic mild‐to‐moderate AS.  相似文献   

5.
To assess the progression of aortic valvular gradients (AVG) and their relation to left ventricular function, 21 patients with aortic valvular stenosis were studied sequentially by cardiac catheterization and left ventriculography. All AVG were obtained from the left ventricle to ascending aortic pullback tracings. The ejection fraction and mean velocity of circumferential fiber shortening were obtained from left ventriculograms. A new onset of syncopal episode was helpful to predict the progression of AVG in five patients, but in others the progression of aortic stenosis was generally not predictable. The left ventricular contractility of these patients was usually normal, but seven patients exhibited the progressive impairment that was not proportional to the change of AVG and was clinically unrecognized. Also, the left ventricular function may deteriorate in the absence of progression of the aortic valvular gradient. Thus, serial hemodynamic studies could be indicated in patients with mild to moderate aortic stenosis even in the absence of new symptoms and signs.  相似文献   

6.
Objective—To assess and measure the diagnostic and prognostic value of individual aortic root growth in children and adolescents with Marfan syndrome.
Design—From 1983 to 1996, 250 children were screened for Marfan syndrome. Serial echocardiographic aortic root measurements of 123 children (57 Marfan, 66 control) were available for evaluation of aortic root growth. Aortic root diameters were correlated with body surface area. Based on individual growth of the aortic root a discrimination formula was derived to distinguish Marfan patients from control subjects.
Results—Sensitivity and specificity of this method, which were dependent on the number of measurements, were 84% and 73%, respectively, for three serial measurements. The discrimination score also predicted a five year complication free survival in all patients.
Conclusions—In children and adolescents with Marfan syndrome, aortic root growth differs significantly from subjects in whom Marfan syndrome was definitely ruled out during screening. Measurement of individual aortic root growth may serve to establish diagnosis at an early stage and is of prognostic value for occurrence of aortic complications.

Keywords: Marfan syndrome;  aortic root growth;  echocardiography;  children;  adolescents  相似文献   

7.
The Marfan syndrome is an autosomal dominant disorder of connective tissue, caused by mutations in the FBN1 gene on chromosome 15. More than 500 mutations have been identified and almost all are unique to an affected individual or family. Genotype--phenotype correlations in the Marfan syndrome have been complicated by the large number of unique mutations reported, as well as by clinical heterogeneity among individuals with the same mutation. A relatively unknown cardiovascular manifestation of Marfan syndrome is dilatation of the main pulmonary artery. Of 50 patients with Marfan syndrome, MR imaging showed in 74% patients an enlarged pulmonary artery root above the upper limit of normal. Aortic elasticity determined by measurement of local distensibility and flow wave velocity with MR imaging is decreased in non-operated patients with Marfan syndrome. Aortic distensibility of the thoracic descending aorta appeared to be the strongest predictor for descending aortic complications. Over the past 30 years improvement of diagnostic modalities and aggressive medical and surgical therapy, have resulted in considerable improvement of life expectancy of patients with Marfan syndrome. Further studies are needed to investigate the role of modulating genes and genotype--phenotype correlations. Long-term follow-up studies may reveal the prognostic significance of aortic elasticity and may identify patients at risk of aortic complications.  相似文献   

8.
M-mode echocardiography was used to determine left atrial size in 100 patients with coronary artery disease undergoing cardiac catheterization. Patients were divided in two groups on the basis of left atrial diameter (≥ 40 mm in 40 patients and < 40 mm in 60). Patients with larger left atria had a higher frequency of electrocardiographic evidence of left atrial abnormality (p < 0.01) and myocardial infarction (p < 0.001). Pulmonary capillary wedge and left ventricular end-diastolic pressures were higher (p < 0.005) in patients with larger left atria. An abnormal end-diastolic volume (>100 ml/M2) was observed in 13 patients with enlarged left atria compared to none with normal left atrial size (p < 0.001). Triple vessel disease was more frequent (63% vs 32%) and single vessel disease less frequent (10% vs 37%) in patients with larger left atria (p < 0.005). Abnormal left ventricular contractile patterns were noted in 45% of patients with normal left atrial diameters compared to 80% in those with an enlarged left atrium (p < 0.001). An abnormally low ejection fraction (< 0.5) was observed in 25% and 80%, respectively, in patients with normal and enlarged left atria (p < 0.001). Of 58 patients with normal ejection fractions, only 17% had left atrial diameters ≥40 mm compared to 71% of 42 patients with abnormally low ejection fractions (p < 0.001). Of 18 patients with left atrial diameters > 42 mm, only two had normal ejection fractions. The mean ejection fraction for patients with left atrial diameters <40 mm was 0.63 ± 0.13 compared to 0.41 ± 0.18 for those with diameters ≥40 mm (p < 0.001). The sensitivity, specificity, and predictive value for an enlarged left atrium in identifying an abnormal ejection fraction were, respectively, 71, 83, and 75%. These findings indicate that M-mode echocardiographic left atrial enlargement is a useful marker of advanced hemodynamic and anglographic abnormality in patients with coronary artery disease.  相似文献   

9.
BackgroundA diversity of surgical strategies are used to treat Marfan syndrome patients with aortic disease. We sought to evaluate the long-term efficiency of aortic root replacement (ARR) for patients with Marfan syndrome.MethodsData were collected from 131 patients with Marfan syndrome and aortic disease who underwent ARR in our center. We retrospectively analyzed the long-term outcomes of these patients, among whom 68 had been diagnosed with aortic aneurysm (AA) and had undergone ARR. The remaining 63 patients had aortic dissection (AD); of these, 35 underwent ARR for limited ascending AD, while the others underwent ARR and total arch replacement combined with frozen elephant trunk (FET). Risk factors for survival and reoperation were identified.ResultsThe operative mortality rate was 4.58%. Age >40 years was the sole risk factor for operative mortality. During follow-up, 12 deaths occurred. Patients aged <25 years and female patients were more prone to late death than were other patients. Indications for reoperation were noted in 22 patients, and the risk factors were age <30 years and female sex. At 5 years, the survival rate was 92.96%, and the freedom from reoperation rate was 88.36%. At 10 years, the survival rate was 85.25%, and the freedom from reoperation rate was 71.75%. The survival and freedom from reoperation rates were significantly higher in patients with AD than in those with AA. Specifically, chronic AD was a greater risk factor for late survival than was acute AD in patients with Marfan syndrome.ConclusionsFor patients with Marfan syndrome and aortic disease, ARR can be safely performed and results in low operative mortality and favorable long-term survival. Young and female patients have a higher risk for late death and reoperation. To prevent AD, surgical intervention should be promptly implemented following the diagnosis of aortic sinus dilation.  相似文献   

10.
The medical literature reports 32 women affected by the Marfan syndrome who had at least one pregnancy; 16 died of and four survived acute aortic dissection. Most of the women who suffered an aortic complication in association with pregnancy had pre-existing aortic regurgitation, aortic root dilatation or other severe cardiovascular problem. Because women with the Marfan syndrome usually desire children, our clinic records were reviewed and patients were contacted to determine a more representative estimate of maternal risks. The pregnancy histories of women with the Marfan syndrome were compared with those of spouses of men with the Marfan syndrome and those of mothers of a sporadic (new mutation) child with the Marfan syndrome. One of 26 women with the Marfan syndrome died shortly after pregnancy of endocarditis; she was the only woman to have a severe, pre-existing cardiovascular condition. The prevalences of milder pregnancy-associated cardiovascular and general complications did not differ among the study groups. The rate of early spontaneous abortion was higher in women with the Marfan syndrome than in either control group. These results suggest the risk of maternal death is low in women with the Marfan syndrome who have minimal cardiovascular disease. Women with the Marfan syndrome should be counseled regarding pregnancy risks only after review of their cardiovascular status, including an echocardiographically determined aortic root diameter.  相似文献   

11.
Beta-blockers, eg, atenolol, are the cornerstone therapy for thoracic aortic aneurysm (TAA) in patients with Marfan syndrome; however, continued aortic dilatation has been reported. We have demonstrated that matrix metalloproteinase (MMP)-2 and -9 were upregulated during progression of TAA in Marfan syndrome, accompanied with degenerated elastic fibers and vasomotor dysfunction. We hypothesized that doxycycline, a nonspecific inhibitor of MMPs, would ameliorate TAA by attenuating elastic fiber degeneration and improving vasomotor function. A well-characterized mouse model of Marfan syndrome (Fbn1(C1039G/+)) was used. Mice were untreated (n=40), given doxycycline (0.24 g/L, n=30), or given atenolol (0.5 g/L, n=30) in drinking water at 6 weeks of age. The Fbn1(+/+) mice served as control (n=40). At 3, 6, and 9 months, aortic segments from the ascending, arch, and descending portions were used to obtain the "average" value of the whole thoracic aorta. TAA was prevented in the doxycycline group, whereas mild aneurysm was evident in the atenolol group. Doxycycline improved elastic fiber integrity, normalized aortic stiffness, and prevented vessel weakening. The impairment of vasocontraction and endothelium-dependent relaxation in the untreated and atenolol groups were improved by doxycycline. The upregulation of transforming growth factor-beta in the Marfan aorta was suppressed by doxycycline. Doxycycline augmented expression ratios of tissue inhibitors of MMP to MMPs. Intraperitoneally injected neutralizing antibodies against MMP-2 and -9 yielded similar effects to doxycycline. We concluded that long-term treatment with doxycycline, through the inhibition of MMP-2 and -9, is more effective than atenolol in preventing TAA in Marfan syndrome by preserving elastic fiber integrity, normalizing vasomotor function, and reducing transforming growth factor-beta activation.  相似文献   

12.

Background

The typical cardiac manifestations of Marfan syndrome are aortic regurgitation with progressive dilatation of the aortic root, which may cause dissection and rupture of the ascending aorta, mitral valve prolapse and mitral valve regurgitation. In this study, we aimed to show echocardiographic findings in 11 patients with Marfan syndrome.

Methods

Diagnosis of Marfan syndrome was based on the Ghent criteria. All patients had a full echocardiographic evaluation. During the evaluation, we investigated the presence of mitral valve prolapse, mitral valve regurgitation, tricuspid valve prolapse, dilatation of the aortic root, and aortic regurgitation.

Results

Eleven patients were diagnosed as Marfan syndrome (seven male, four female, age 4–14 years). All had mitral valve prolapse (nine with mitral valve regurgitation). Among these 11 patients, seven had accompanying tricuspid valve prolapse, six had dilatation of the aortic root and two had aortic regurgitation.

Conclusion

Eleven patients in our clinic were diagnosed as Marfan syndrome since they had distinct characteristics of marfanoid phenotype. Echocardiographic evaluation of these patients showed marked heart valve involvement. In Marfan syndrome, it is known that the aortic valve is affected following mitral valve involvement. In our experience, aortic root dilatation is less common. However, particular attention should be given to following up aortic root status with non-invasive echocardiography to institute measures to prevent complications.  相似文献   

13.
The association of primary mitral valve prolapse (MVP) with thoracic bony abnormalities has led to the suggestion that MVP may be a forme fruste of the Marfan syndrome. Echocardiographic, skeletal and anthropometric findings in 59 subjects with primary MVP and 59 age- and sex-matched patients with Marfan syndrome were compared with those in 59 control subjects. Subjects with mitral prolapse were similar to control subjects and differed (p less than 0.025 to p less than 0.001) from the patients with Marfan syndrome in aortic root dimensions, height, arm span, upper/lower segment ratio and prevalences of arachnodactyly, scoliosis and pectus carinatum. Subjects with mitral prolapse and patients with Marfan syndrome had similar body mass indexes and prevalences of pectus excavatum and straight back. All 3 groups were similar in arm span/height ratio. The 5 subjects with MVP and arachnodactyly had lower weights, smaller body surface areas and smaller aortic root dimensions, and were more likely to have scoliosis than subjects with MVP without arachnodactyly. Thus, primary MVP differs from the Marfan syndrome in all major skeletal and cardiovascular features.  相似文献   

14.
Objective: The aim of this study is to compare the impact of two different loading conditions on myocardial contractility in asymptomatic patients with normal EF by using stain rate imaging (SRI). Methods: A total of 27 patients with severe aortic regurgitation (mean age 50 ± 11 years) and 25 patients with severe aortic stenosis (mean age 53 ± 15 years) were prospectively recruited. Fifteen healthy subjects (mean age 50 ± 6 years) were enrolled as the control group. For the evaluation myocardial contractility, longitudinal LV function was chosen and, midventricular segment shortening was analyzed for the septum, LV lateral wall from apical four‐chamber view and for the anterior, inferior wall from apical two‐chamber view. Results: Longitudinal peak systolic strain rate values of each segment derived from analysis of a total of 804 segments were significantly decreased in the patients population (P < 0.001). Global longitudinal peak systolic strain rate was also significantly decreased in aortic stenosis and regurgitation compared to the control group (?1 ± 0.5, ?0.9 ± 0.3, and ?1.6 ± 0.3, P = 0.001). As far as the comparison between patients with aortic stenosis and aortic regurgitation, neither global strain rate nor strain rate for each wall was found to be different. Conclusion: We conclude that longitudinal LV function is reduced in both pressure and volume overload, and both of this overload patterns are equally harmful to the ventricle. (Echocardiography 2010;27:798‐802)  相似文献   

15.
IntroductionCurrent guidelines for management of thoracic aortic disease base clinical decision-making primarily on the aortic size. The risk of serious complications in genetically-triggered aortic disease is influenced by many other factors, currently not taken into account by the guidelines.MethodsAn extensive review of the medical literature using PubMed and Medline.ResultsCurrent guidelines do not make a distinction between atherosclerotic and nonatherosclerotic aneurysmal disease. Current guidelines for genetically triggered thoracic aortic disease are based on data from Marfan syndrome population. There remain significant differences between Turner syndrome and Marfan syndrome (in patient gender, fertility, stature, female sex hormone and growth hormone therapy as well as presence of coarctation) may have influence on the natural history of the disease and risk assessment.ConclusionsTurner syndrome patients have a distinct set of factors influencing the development and natural history of their aortic disease, as opposed to Marfan syndrome patients. Therefore, a different set of clinical, genetic and biomarker parameters need to be devised for this condition. Recommendations from the current guidelines need further updates to better address indications for surveillance and therapeutic interventions in patients with Turner syndrome.  相似文献   

16.
Despite variable clinical results, beta blockers have become the primary therapy for prevention of aortic dilation in patients with the Marfan syndrome. This study examines the use of the angiotensin-converting enzyme inhibitor enalapril for treatment of these patients. We sought to examine the effects of enalapril versus beta-blocker therapy in patients with the Marfan syndrome and noted improved aortic distensibility (3.0 +/- 0.3 vs 1.9 +/- 0.4 cm2 dynes(-1); p <0.02) and a reduced aortic stiffness index (8.0 +/- 2.9 vs 18.4 +/- 3.8; p <0.05) in patients receiving enalapril compared with those receiving beta blockers. These favorable hemodynamic changes were associated with a smaller increase in aortic root diameter (0.1 +/- 1.0 vs 5.8 +/- 5.2 mm) and fewer clinical end points during follow-up.  相似文献   

17.
BACKGROUND: Aortic valve sclerosis, without stenosis, has been associated with an increased cardiovascular mortality and morbidity due to myocardial infarction. However, it is unclear whether it is a cardiovascular risk factor or a cardiac disease marker. The goal of our study is to evaluate the difference in the prevalence of cardiovascular disease and risk factors among patients with or without aortic sclerosis. METHODS: This observational study compared a group of 142 consecutive subjects with aortic valve sclerosis, assigned as group S, with a group of 101 subjects without aortic sclerosis, assigned as group C. Patients with bicuspid aortic valves and those with antegrade Doppler velocity across aortic valve leaflets exceeding 2.0 m/sec were excluded. RESULTS: Mean ages of groups S and C were 71 +/- 8, and 68.8 +/- 6 years, respectively (P value = not significant). The prevalence of smoking, diabetes, hypercholesterolemia, hypertension, pulse pressure, left ventricular diastolic dysfunction, atrial fibrillation, and stroke was not significantly different between the two groups. However, there was a significantly higher prevalence of left ventricular hypertrophy (P = 0.05), ventricular arrhythmias (P = 0.02), myocardial infarction (P = 0.04), and systolic heart failure (P = 0.04) in aortic sclerosis group. CONCLUSIONS: Aortic sclerosis is associated with a higher prevalence of left ventricular hypertrophy, ventricular arrhythmias, myocardial infarction, and systolic heart failure, while the prevalence of cardiovascular risk factors is not different between aortic sclerosis patients and controls. Hence, aortic sclerosis represents a cardiac disease marker useful for early identification of high-risk patients beyond cardiovascular risk factors rate.  相似文献   

18.
Marfan syndrome is an autosomal dominant connective tissue disease with an estimated incidence of 1 in 5000 individuals. In 90% of cases it is caused by mutations in the gene for fibrillin‐1, the main constituent of extracellular microfibrils. Studies on animal models of Marfan syndrome have revealed that fibrillin‐1 mutations interfere with local TGF‐β signaling, in addition to impairing tissue integrity. The cardinal features involve the cardiovascular, ocular and skeletal systems. The diagnosis of Marfan syndrome is made according to the revised Ghent nosology. Early identification and appropriate management are critical for patients with Marfan syndrome, who are prone to the life‐threatening cardiovascular complications of aortic aneurysms and aortic dissection. The standard treatment includes prophylactic beta‐blockers in order to slow down dilation of the ascending aorta, and prophylactic aortic surgery. The success of current medical and surgical treatment of aortic disease in Marfan syndrome has substantially improved mean life expectancy, extending it above 72 years. This review aims to provide an overview of this hereditary disorder.  相似文献   

19.
Left ventricular (LV) systolic dysfunction is an adverse consequence of the pressure overload of severe aortic stenosis (AS). The enlargement of the interstitial space with reactive fibrosis and subsequently with replacement fibrosis and cell death has been suggested to be the main driver of the transition to symptoms, heart failure, and adverse cardiovascular events even after aortic valve replacement (AVR). Early and accurate recognition of myocardial dysfunction offers the potential to optimize the timing of intervention in severe AS. In the asymptomatic patient, an LV ejection fraction (EF) cutpoint of <50% has been used for this purpose. However, in most asymptomatic patients, an LVEF <50% is uncommon, and patients with an LVEF of 50% to 59% fare almost as badly. Moreover, the presence of a small LV cavity, the reliability and automation of the global longitudinal strain (GLS) signal, and the independent prognostic role of GLS are reasons why GLS could be expected to be a better marker of subclinical LV dysfunction in these patients. This review seeks to define whether the existing EF cutoff in AS should be modified or whether GLS should replace it as the marker of subclinical LV dysfunction.  相似文献   

20.
目的 探索急性心肌梗死患者室壁运动及心功能损害与发病-超声检查时间的关系.方法 收集初发急性心肌梗死患者219例,均已排除陈旧性心肌梗死、早期心肌再梗死、严重的瓣膜性心脏病、先天性心脏病、心肌病等影响室壁运动及心功能的疾病.所有患者均在予冠状动脉介入干预前行经胸超声心动图检查,采用二维超声等方法测量或(和)计算左心室舒张末期内径(left ventricular diameters in diastasis,LVDd)、收缩末期内径(left ventricular diameters in systole,LVDs)、左心室射血分数(left ventricular ejection fraction,LVEF)、室壁运动计分指数(wall motion index,WMI)及运动正常节段(fragments with normal wall motion,FM)百分比等参数,并精确记录发病-超声检查时间.结果 WMI、LVDd、LVDs、LVEF、FM百分比与发病-超声检查时间的相关关系均有统计学意义(P<0.05),相关系数分别为0.167,0.235,0.258,-0.196,-0.144.在WMI的多重线性回归分析结果显示,变量FM百分比、LVEF、左回旋支和(或)右冠状动脉进入方程(R2=0.878,justed R2=0.876),偏回归系数分别为-1.103,-0.030,-0.001.结论 对于未予冠状动脉介入干预的急性心肌梗死患者,其室壁运动及心功能均随发病-超声检查时间的增加而减弱.  相似文献   

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