超声心动图在诊断二尖瓣脱垂中的应用价值

目的 探讨超声心动图在诊断二尖瓣脱垂中的应用价值,特别探讨超声心动图对二尖瓣脱垂疾病的诊断以及二尖瓣脱垂部位的定位。方法 对2010年1月~2015年3月我院52例超声心动图诊断并手术证实的二尖瓣脱垂患者的二维超声、M型超声及彩色多普勒血流显像资料进行回顾性分析,对比术前超声心动图对二尖瓣脱垂的诊断与手术所见。 结果 52例二尖瓣脱垂患者,前叶病变25例,后叶病变20例,双叶病变7例,误诊1例,诊断符合率为98.07%。结论 超声心动图对二尖瓣脱垂疾病的诊断及定位脱垂部位具有很好的应用价值。     

Mitral valve prolapse and aortic dilatation in the fragile X syndrome

Four patients with the fragile X syndrome including 3 males and one woman, were evaluated for cardiological abnormalities. One patient had an obvious murmur. All 4 were shown to have mitral valve prolapse by echocardiography. Two male patients also demonstrated mild dilatation of the ascending aorta. We recommend thorough cardiological evaluations of all fragile X patients.     

The prevalence of mitral valve prolapse in healthy men and women in Sweden. An echocardiographic study

An asymptomatic population of 100 women and 101 men was studied with M-mode echocardiogram to determine the prevalence of mitral valve prolapse (MVP). One of the two patterns characteristic for MVP was found in 8% of the females and 7% of the males. The diastolic mitral valve excursion was significantly higher in the MVP group (p less than or equal to 0.001). A typical M-mode pattern in combination with a high mitral valve excursion probably enhances the diagnostic specificity.     

Cardiovascular findings in congenital contractural arachnodactyly: Report of an affected kindred

Three generations of a kindred had a history and physical findings consistent with congenital contractural arachnodactyly (CCA) segregating in an autosomal-dominant manner. Six of the seven affected patients we examined had mitral valve prolapse (MVP) diagnosed clinically or by echocardiography. The family members without CCA did not have MVP. This association of cardiac involvement with CCA further lessens the distinction between CCA and the Marfan syndrome. The indication for ophthamologic and echocardiographic follow-up of patients carrying the diagnosis of CCA is stressed.     

The fragile X in Sicily: an epidemiological survey

We have studied a group of 349 institutionalized propositi with mental retardation, and found 12 fra(X)-positive cases among 155 males (7.7%) and 8 fra(X)-positive cases among 194 females (4.1%). The males had characteristic manifestations of the Martin-Bell syndrome. Another 7 males, who were initially considered "borderline", having expression of fra(X) less than 4% and a non-characteristic phenotype, were eventually considered negative. Among 5,624 patients (2,764 males and 2,860 females) that were admitted to the Pediatric Department of the University of Catania during the period July 1986 - June 1987, 210 (120 males and 90 females) had mental retardation. Of these, 75 were analyzed for the presence of fra(X) (q27.3); 5 males (0.18% of all males) and 2 females (0.07% of all females) were fra(X)-positive. The males had the Martin Bell syndrome phenotype. The presence of fra(X) (q27) was confirmed in another 4 male propositi that were referred to our outpatient services with a clinical diagnosis of Martin-Bell syndrome.     

Cardiac disease in patients with reversible cerebral ischemic events

The establishment of a possible association between ischemic cerebral attacks and prolapsing mitral valve has been studied in 45 consecutive patients aged 60 years or less with transient cerebral ischemic attacks and reversible ischemic neurological deficits. The study comprised cardiac history, auscultation, electrocardiography and echocardiography. We found only one patient (2%) with mitral valve prolapse but 19 patients (42%) with cardiac abnormalities. Two of the patients with cardiac abnormalities had a flail posterior mitral leaflet, one had ventricular septal defect and one had sclerotic aortic valves. We conclude that all patients with transient cerebral ischemic attacks should be subjected to heart examination, if possible including echocardiography.     

Fragile X checklist

A 13-item checklist that combines physical and behavioral traits typical of fragile X [fra(X)] syndrome was evaluated prospectively in the screening of 107 males with mental retardation or severe learning disabilities. The checklist was completed before we obtained cytogenetic results. Fifteen males were fra(X)-positive and the manifestations that differentiated fra(X)-positive and fra(X)-negative patients included perseverative speech, large or prominent ears, large testicles, and tactile defensiveness. The combination of physical and behavioral traits is helpful in suggesting the diagnosis and identifying high-risk patients. A total score of 16 or higher had a significant yield of fra(X)-positive patients (greater than or equal to 45%).     

Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes

Structural cardiovascular alterations in the classical and hypermobile forms of Ehlers-Danlos syndrome(EDS) warrant investigation. We have examined a cohort of 38 patients with hypermobile and classical EDSs using two-dimensional echocardiography. The cohort includes 7 males and 31 females, with an age range from 12-60 years. Altered echocardiographic parameters were seen in the initial cross-sectional data analysis in 24/38 patients. Five of the 38 participants had mildly dilated aortic root (AR) or sinuses of Valsalva (SV), and an additional 7 patients had an abnormal pouching of the SV, although the absolute dimensions did not exceed the normal range. Ten patients had mild mitral, tricuspid, or aortic regurgitation, and only one patient had mitral valve prolapse (MVP). Three patients had low normal systolic function; three had evidence of mildly elevated pulmonary pressures, and two patients had mild concentric left ventricular hypertrophy (LVH). Five patients had evidence of impaired left ventricular relaxation (LVR) based on mitral valve E to A velocity ratio. Interestingly, 26/38 subjects demonstrated a prominent right coronary artery (RCA) easily visualized by trans-thoracic echocardiography, and 10/38 had an elongated cardiac silhouette on the 4-chamber apical views. The "pouching" shape of the SV was more common in hypermobile type than in the classical type of EDS. The study is ongoing and will accrue longitudinal data on 100 subjects with classical and hypermobile EDSs at 2-year intervals.     

Cytogenetic guidelines for fragile X studies tested in routine practice.

Several organizations have proposed guidelines for fra(X) studies on peripheral blood lymphocytes. To evaluate these guidelines, we reviewed 1,033 consecutive specimens referred for fra(X) analysis. Each specimen was cultured with medium 199 and RPMI 1640 with 5-fluorodeoxyuridine or excess thymidine. The karyotype and expression of fra(X) were established from 20 GTL- or QFQ-banded cells and by screening of up to 130 more banded cells. We found anomalies other than fra(X) in 37 (3.6%) of the patients. We found 4% or more fra(X) cells in 38 (3.7%) cases from 36 unrelated families, including 33 (3.9%) of 850 males and 5 (2.7%) of 183 females. Another 4 females had 1 to 3% fra(X) cells. Six specimens were fra(X)-positive in only one stress system, and 32 were positive in 2 systems. To find the first 2 fra(X) cells in males, we needed to study up to 36 cells in 31 cases, 50 in one case, and 57 in another. To find the first 2 fra(X) cells in females, we needed to study up to 17 cells in 4 cases and 57 in another. A strong family history of fra(X) occurred in 5 patients, and each one was fra(X)-positive. Some manifestations of the fragile X syndrome occurred in 507 cases, 17 (3%) of which were fra(X)-positive. Abnormalities considered unlikely to be the fragile X syndrome occurred in 103 cases, 3 (3%) of which were fra(X)-positive. Use of chromosome breakage and fra(3)(p14) as quality control indicators of the fra(X) stress systems was found to be unreliable.(ABSTRACT TRUNCATED AT 250 WORDS)     

Cytogenetic guidelines for fragile X studies tested in routine practice

Several organizations have proposed guidelines for fra(X) studies on peripheral blood lymphocytes. To evaluate these guidelines, we reviewed 1,033 consecutive specimens referred for fra(X) analysis. Each specimen was cultured with medium 199 and RPMI 1640 with 5-fluorodeoxyuridine or excess thymidine. The karyotype and expression of fra(X) were established from 20 GTL- or QFQ-banded cells and by screening of up to 130 more banded cells. We found anomalies other than fra(X) in 37 (3.6%) of the patients. We found 4% or more fra(X) cells in 38 (3.7%) cases from 36 unrelated families, including 33 (3.9%) of 850 males and 5 (2.7%) of 183 females. Another 4 females had 1 to 3% fra(X) cells. Six specimens were fra(X)-positive in only one stress system, and 32 were positive in 2 systems. To find the first 2 fra(X) cells in males, we needed to study up to 36 cells in 31 cases, 50 in one case, and 57 in another. To find the first 2 fra(X) cells in females, we needed to study up to 17 cells in 4 cases and 57 in another. A strong family history of fra(X) occurred in 5 patients, and each one was fra(X)-positive. Some manifestations of the fragile X syndrome occurred in 507 cases, 17 (3%) of which were fra(X)-positive. Abnormalities considered unlikely to be the fragile X syndrome occurred in 103 cases, 3 (3%) of which were fra(X)-positive. Use of chromosome breakage and fra(3)(p14) as quality control indicators of the fra(X) stress systems was found to be unreliable. Our findings support most of the proposed guidelines for fra(X) studies but indicate a need for modifications of others. © 1992 Wiley-Liss, Inc.     

An analysis of autism in fifty males with the fragile X syndrome

Fifty males with the fragile X [fra(X)] syndrome, which we consider synonymous with the Martin-Bell syndrome, were identified by a chromosome analysis of patients with developmental delays or mental retardation and family studies of known fra(X) pedigrees. These males were evaluated for autism using three criteria: 1) the DSM III diagnostic criteria for Infantile Autism; 2) the Autism Behavior Checklist (ABC); and 3) the Diagnostic Checklist for Behavior Disturbed Children, Form E2. Sixteen percent of patients fulfilled all of the DSM III criteria for Infantile Autism and an additional 30% fulfilled criteria for Infantile Autism Residual State. Thirty-one percent of patients had autism using the ABC checklist but none of the patients fit the classical Kanner syndrome as described by the E2 questionnaire. Some autistic traits were seen in almost all of the 50 fra(X) patients, including eye avoidance in 90%, handflapping, handbiting or handstereotypies in 88%, and language delays with language peculiarities, usually echolalic speech, in 96%. A pervasive lack of responsiveness was seen in 18% at their present age and in 44% in earlier childhood only. Autistic symptoms are common in the fra(X) syndrome. Therefore, any patient with developmental delays and autism or autistic manifestations should have a chromosomal analysis, including fra(X) examination.     

Dermatoglyphic indices of males with the fragile X syndrome and of the female heterozygotes

Indices for males with the fragile X [fra(X)] syndrome and for the female heterozygotes have been established. The indices were based on the increased frequencies of whorls and radial loops on the third digits of affected males and heterozygous females, increased frequency of arches on the third digits of the affected males, and an excess of low ab ridge counts and abnormal palmar creases, particularly the Sydney crease, in both sexes. The indices were calculated using the logN odds ratio based on the frequencies of the above dermatoglyphics and palmar creases in 47 males with the syndrome compared to 497 male controls and 36 heterozygous females compared to 493 female controls. The indices had similar distributions in males and females. Seventy per cent of males with the syndrome and 67% of female heterozygotes had an index greater than or equal to +0.5. Thirty-one per cent of female heterozygotes who had both the dermatoglyphic index calculated and their chromosomes examined under appropriate conditions for the fra(X) site had an index less than +0.5 and had less than 2% fragile sites (most had none). However when the two tests were considered together, only 4/35 (11%) of the heterozygotes would not have been identified using the two criteria. The data suggest that the dermatoglyphic index is a helpful adjunct test with chromosome analysis for the identification of fra(X) heterozygotes.     

An investigation into the frequency of mitral valve prolapse in von Willebrand disease

The reported extremely high incidence of mitral valve prolapse in von Willebrand patients (60%) in combination with multiple signs of mesenchymal dysplasia points to a hitherto unknown pleiotropic effect of the von Willebrand gene and needs further confirmation. Therefore, we looked for the presence of mitral valve prolapse in 19 patients with classical von Willebrand disease. While 58% of these patients had one or more physical findings which could be interpreted as symptoms of mesenchymal dysplasia, we found only one patient with a mitral valve prolapse (5.3%), comparable to the 6% incidence in the normal population. Therefore, we must conclude that there is no association between mitral valve prolapse and von Willebrand disease.     

A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome.

PURPOSE: The prevalence of most minor cardiovascular manifestations in Marfan syndrome (MFS) is unknown. We assessed the prevalence of minor cardiovascular manifestations in MFS to evaluate their usefulness in a diagnostic setting. METHODS: Seventy-seven patients with MFS (aged 4 months to 55 years) underwent echocardiography to assess the presence of mitral valve prolapse and the diameter of the main pulmonary artery. A subset of 29 adult patients with MFS also underwent magnetic resonance imaging evaluation of the diameters of the thoracoabdominal aorta. RESULTS: Mitral valve prolapse was encountered in 66% of patients with MFS, with an equal distribution of classic and nonclassic mitral valve prolapse. The main pulmonary artery diameter was significantly larger in patients with MFS at all ages when compared with controls. In the adult group (> or = 14 years), we were able to provide a cutoff value of 23 mm to define pulmonary artery dilatation. The descending aorta was enlarged, but with substantial overlap with controls, thus precluding the use of a cutoff value. CONCLUSIONS: Mitral valve prolapse and main pulmonary artery dilatation are common findings in MFS patients at all ages and are easy to assess with echocardiography. Cutoff values to define dilatation of the descending aorta are hard to define, making them of limited value in the diagnostic evaluation. We recommend echocardiographic evaluation of mitral valve prolapse and main pulmonary artery diameter in patients referred for cardiovascular diagnostic assessment for MFS.     

High occurrence of mitral valve prolapse in cardiac catheterization patients with pure isolated mitral regurgitation

The aetiological spectrum of angiographically verified pure isolated mitral regurgitation (MR) was studied in 48 consecutive adult patients (35 males). Severe MR was found in 35 patients (73%) and moderate MR in 13 patients (27%). Mitral valve prolapse (MVP) syndrome was found in 21 patients (44%). These were younger than the rest of the study population (55 +/- 13 vs. 62 +/- 6 years, p less than 0.05) and 15 (71%) of them were men. Endocarditis and chordal rupture occurred in 19% and 43% of the MVP patients. Sixteen patients (33%) had MR secondary to myocardial infarction while only three patients (6%) had MR of rheumatic aetiology. Bacterial endocarditis, hypertensive heart disease, hypertrophic obstructive cardiomyopathy and mitral annulus calcification were less frequently found. Mitral valve replacement was done in 20 (57%) of the patients with severe MR and MVP was the underlying disease in 15 (75%) of these patients. In conclusion, MVP is a frequent cause of pure isolated MR and of mitral valve replacement. In contrast to the preponderance of young females amongst MVP patients in population surveys, most of the MVP patients with MR in this study are middle-aged and elderly men.     

Cardiovascular manifestations in Fabry's disease

Cardiovascular manifestations of Fabry's disease were studied clinically in 10 hemizygous males and 13 heterozygous females. Mitral valve prolapse was found in 5 of 9 hemizygotes and in 5 of 13 heterozygotes examined by echocardiography. Ordinary medical examinations revealed cardiomyopathy in some asymptomatic females, and the diagnosis of the Fabry heterozygote was established by demonstration of specific inclusion bodies in the biopsied myocardium and low a-galactosidase activity in leukocytes. Renovascular hypertension of juvenile onset and thromboembolism were also found in 7 patients. It was concluded that Fabry's disease should always be considered in cases of mitral valve prolapse, cardiomyopathy, renovascular hypertension and thrombosis of unknown etiology, and that the Fabry patients should be followed carefully for the early detection of cardiovascular involvements in this disease.     

Anthropometric and craniofacial patterns in mentally retarded males with emphasis on the fragile X syndrome

Butler MG, Pratesi R, Watson MS, Breg WR, Singh DN. Anthropometric and craniofacial patterns in mentally retarded males with emphasis on the fragile X syndrome. Clin Genet 1993: 44: 129–138. © Munksgaard, 1993 Anthropometric and craniofacial profile patterns indicating the percent difference from the overall mean were developed on 34 physical parameters with 31 white, mentally retarded males (23 adults and 8 children) with the fra(X) syndrome matched for age with 31 white, mentally retarded males without a known cause of their retardation. The fra(X) syndrome males consistently showed larger dimensions for all anthropometric variables, with significant differences for height, sitting height, arm span, hand length, middle finger length, hand breadth, foot length, foot breadth, and testicular volume. A craniofacial pattern did emerge between the two groups of mentally retarded males, but with overlap of several variables. Significant differences were noted for head circumference, head breadth, lower face height, bizygomatic diameter, inner canthal distance, ear length and ear width, with the fra(X) syndrome males having larger head dimensions (head circumference, head breadth, head length, face height and lower face height), but smaller measurements for minimal frontal diameter, bizygomatic diameter, bigonial diameter, and inner canthal distance. Several significant correlations were found with the variables for both mentally retarded males with and without the fra(X) syndrome. In a combined anthropometric and craniofacial profile of 19 variables comparing 26 white fra(X) syndrome males (13 with high expression (>30%) and 13 with low expression (<30%), but matched for age), a relatively flat profile was observed with no significant differences for any of the variables. Generally, fra(X) syndrome males with increased fragile X chromosome expression have larger amplifications of the CGG trinucleotide repeat of the FMR-1 gene. No physical differences were detectable in our study between fra(X) males with high expression and apparently larger amplifications of the CGG trinucleotide repeats compared with those patients with low expression. Our research illustrates the use of anthropometry in identifying differences between mentally retarded males with or without the fra(X) syndrome and offers a comprehensive approach for screening males for the fra(X) syndrome and selecting those individuals for cytogenetic and/or molecular genetic testing.     

Correlation between clinical and histologic patterns of degenerative mitral valve insufficiency: a histomorphometric study of 130 excised segments.

The objectives of this study were to examine quantitatively the histological changes in incompetent degenerative mitral valves obtained at surgery for mitral valve repair, and to determine whether Barlow's disease (BD) and fibroelastic deficiency (FED) can be distinguished by histology. The billowing mitral leaflet syndrome (or Barlow's disease) and FED can be distinguished on the basis of clinical patterns and gross features, but their histologic patterns have not been described. One hundred thirty patients were studied. Thirty-nine (24 males) had BD; 44 (38 males) FED; 15 (7 males) Marfan's syndrome (MS); and 32 patients (25 males) a non-determined degenerative disease. Histological changes of the resected segment of the valve were quantitatively evaluated using scores of severity. A discriminant analysis was performed. The groups defined by the computer were checked for concordance with groups defined by the surgeon. Collagen alterations were found the most severe in MS patients. BD and MS had the most myxoid infiltration. MS and FED patients had the most elastic fiber alterations. No BD in males and only one in females were misclassified by the discriminant procedure into the FED group. Overall, the percentages of correct matchings were 54% in males and 62% in females. When the age of patients and the size of ring were added to histology to determine whether this additional information provided more discrimination, the percentages of correct matchings reached 90% in males and 100% in females. BD and FED are two fairly distinct entities, which can be distinguished by quantitative histology, whereas only modest differences were found in qualitative histology.     

An assessment of the use of flanking DNA markers for fra(X) syndrome carrier detection and prenatal diagnosis

One hundred and three individuals in 11 unrelated families with the fragile-X [fra(X)] syndrome were tested for polymorphisms identified by probes flanking the fra(X) site at Xq27.3. Two probes distal and 2 proximal to the fra(X) site were used. Thirteen known female carriers were analyzed retrospectively. DNA markers gave probabilities of carrying the mutation of 99% in 1 female, 89% in 8 females, and 10-55% in the other 4 females. We also estimated the probability of having inherited the mutation for 16 individuals of unknown fra(X) status using DNA markers and corrections for incomplete penetrance. The DNA marker test gave risks for females of 1-6% (7 females), 15% (1 female), and 97% (1 female). In males the risks were 1-3% (6 males) and 91% (1 male). In 3 families, DNA marker data were used to calculate probabilities of greater than or equal to 98.5% that transmission of the fra(X) mutation had occurred through normal males. In the retrospective studies, only 1 of 7 retarded males could have been diagnosed prenatally as having the fra(X) mutation with a probability of 99%. DNA marker analysis was uninformative in 5 of these males. When fra(X) carrier status cannot be established by chromosome analysis, DNA marker studies provide an alternative test that can be used to calculate individual risks more precisely. However, linkage analysis of the probe loci in these 11 families suggests that the recombination frequency between the fra(X) locus and the factor IX gene (F9) and DXS52 may be greater than previously suggested. Until the true recombination frequencies are established and the question of heterogeneity among families is fully analyzed, caution in using DNA markers as a predictive test is advised.     

特纳综合征的心血管异常

目的 分析遗传性疾病特纳综合征(TS)合并的先天性心血管异常.方法 回顾25例女性TS患者临床特点及先天性心血管异常类型,并分析各种异常在不同核型患者中的分布情况.结果 40%TS患者合并先天性心血管异常,包括主动脉二叶瓣畸形、二尖瓣/主动脉瓣冗长或脱垂、冠状静脉窦扩张、房室增大及心肌致密化不全.45,XO型患者先天性...