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PubMed1991

[Developmental mechanisms of congenital eye abnormalities].

Experimental teratology in mice was studied to clarify the developmental mechanisms of congenital eye abnormalities. Pregnant Jcl: ICR mice were treated intraperitoneally with ochratoxin A on day 7 of pregnancy. The offspring were grossly observed on day 9, 10, 11, 12, 13, 14, 16 or 18 of gestation, or at the second or fourth week after birth. Then, the eyes were histologically examined in serial sections. Mother mice were injected with ochratoxin A on day 8, 9, 10 or 11 of pregnancy, and the eyes of fetuses were examined on day 16 of gestation to determine the critical periods for the congenital eye abnormalities. Pregnant C57BL/6NJcl mice were also given an intraperitoneal injection of ochratoxin A on day 7 of pregnancy, and the eyes of offspring were observed grossly and histologically on day 16 or 18 of gestation, or at the second or fourth week after birth. Fetal and postnatal eyes showed various kinds and degrees of developmental abnormalities histologically. They included anophthalmia, microphthalmia, aphakia, mesenchymal dysgenesis of the anterior segment, faulty separation of the lens vesicle, developmental abnormalities of the vitreous, faulty closure of the embryonic fissure, retinal rosette formation and aberrant optic nerve fiber. Since anophthalmia, microphthalmia and aphakia caused by the developmental disturbances of the optic and lens vesicles were not established in the fetuses whose mothers were treated with ochratoxin A after day 9 of pregnancy, the critical periods for these abnormalities were considered to be on day 8 of gestation or earlier. Mesenchymal dysgenesis of the anterior segment, faulty separation of the lens vesicle and developmental abnormalities of the vitreous were frequently observed in the fetuses whose mothers were injected with ochratoxin A on day 7, 8 or 9 of pregnancy. It was considered that there was a correlation between the critical periods for these three abnormalities and the stage of the neural crest cell migration around the optic vesicle. Mesenchymal dysgenesis of the anterior segment observed in mice corresponded to the Axenfeld-Rieger syndrome or Peters' anomaly encountered clinically. Processes of production of these abnormalities based on the faulty migration of the neural crest cells which form the ocular anterior segment were demonstrated.(ABSTRACT TRUNCATED AT 400 WORDS)

Animals↗
PubMed1986

A multidimensional threshold model for multiple congenital abnormalities.

Analysis of the data of 2.762 infants with "unidentified" (i.e., no identified as dysmorphological entities) multiple congenital abnormalities from the Hungarian Congenital Malformation Registry, 1970-1976 showed that the majority of congenital abnormalities in newborns with multiple congenital abnormalities was not due to random combinations. The ratio of expected random combination and observed causal effect was 1: 6, 1: 225-1: 14,000 and 1: 2.10(6) in two, three, four, and five or more congenital abnormalities, respectively. Our multidimensional threshold model supposes specified liabilities for each congenital abnormality, and the correlation structure of these liabilities explains nearly all associations of congenital abnormalities in unidentified multiple congenital abnormalities. According to this hypothesis, the expected and the observed occurrences do not differ significantly either in the sum or in the various possible threefold associations of congenital abnormalities. The biological reasons for the phenomenon are being studied.

Abnormalities, Multiple↗
PubMed1993

Ultrasound detection of fetal structural abnormalities in Auckland 1988-9.

AIMS: To conduct an audit of ultrasound screening for fetal abnormalities in central Auckland 1988-89. METHOD: All babies born at National Women's Hospital in the time period were examined and fetal abnormalities coded on to a computer database. All terminations of pregnancy for fetal abnormality in the area were similarly audited. RESULTS: There were 12,909 births. 218 babies had a congenital abnormality of whom 88% were scanned antenatally. 48% of abnormalities were detected (27% before 24 weeks). In fetuses that were scanned the detection rate was 52% (44% before 24 weeks). The range of detection of specific abnormalities included neural tube defects 95% and congenital heart defects 16%. CONCLUSIONS: 1. Major abnormalities of the central nervous system, renal tract and abdominal wall have a high detection rate. 2. Cardiovascular, facial and gastrointestinal abnormalities are either not detectable or difficult to detect. 3. Detection rates could be improved by routine scanning, better ultrasound equipment and training, and by the introduction of maternal biochemical screening tests. 4. The detection rate is similar to other overseas surveys.

Abortion, Therapeutic↗
PubMed1995

Cytogenetic study of Malaysian neonates with congenital abnormalities in Maternity Hospital Kuala Lumpur.

During the period 1 January 1990-31 December 1990, 68 neonates with congenital abnormalities were successfully analysed for chromosome abnormalities in order to determine the contribution of chromosome aberrations to the aetiology of congenital abnormalities. The neonates were karyotyped employing the G-banding technique. Twenty-nine babies showed abnormal chromosome karyotypes. Twenty-six were observed to have classic trisomy syndromes; ie. trisomy 21 (32.3%), trisomy 18 (3.0%), and trisomy 13 (3.0%). The mean maternal age of the mothers with babies having normal karyotype was lower than the mean maternal age of the mothers having babies with abnormal karyotypes. From this study the incidence of congenital abnormalities due to chromosomal abnormalities is found to be 1:838 livebirths. Frequency of newborns having abnormal chromosomes is 0.14% for Malays, 0.12% for Chinese and 0.06% for Indians.

Chromosome Aberrations↗
PubMed1985

Electroencephalographic abnormalities in children with congenital heart disease.

Ninety-eight consecutive patients with clinically suspected congenital heart disease were prospectively studied with electroencephalographic (EEG) recordings before cardiac catheterization. Twenty-five patients had abnormal EEGs. Fifty-five patients had acyanotic heart disease and normal neurologic examination results, of whom 15 had abnormal EEGs. Thirteen had spikes or spike and wave discharges and two had mildly abnormal EEGs. Twenty-seven patients had cyanotic heart disease and normal neurologic examination results, of whom four had abnormal EEGs. Seven patients (8%) had abnormal neurologic examination results, of whom four had abnormal EEGs. There was a higher incidence of seizures with increasing age. Based on their medical history two children with acyanotic heart disease had had seizures without EEG abnormalities. Five children with normal catheterization findings and four children with Down's syndrome (two with abnormal EEGs) were excluded from the total of 98. These findings suggest that subclinical nervous system involvement may occur in congenital heart disease.

Brain↗
PubMed1986

Abnormalities of multimodality evoked potentials in amyotrophic lateral sclerosis.

Thirty-two patients with amyotrophic lateral sclerosis were studied with somatosensory evoked potentials (SEPs), visual evoked potentials, and brain-stem auditory evoked potentials. H-reflexes were used to screen for abnormalities of peripheral nerve conduction. Nineteen patients (59%) showed an abnormality of lower extremity SEPs. In 13 patients (40%) the delay was of central origin, while in six patients (19%) peripheral conduction delay was possible. Abnormality of upper limb SEPs was seen in 11 patients (34%), all but two of whom had abnormal lower limb SEPs as well. Four patients (12%) had abnormal brain-stem auditory evoked potentials, all of whom had abnormal SEPs from upper and lower limbs. Four patients had abnormal visual evoked potentials, which in three patients were of minor degree. These results give physiologic evidence to suggest that abnormalities in amyotrophic lateral sclerosis occur outside the motor system.

Adult↗
PubMed1993

Abnormal cranial magnetic resonance imaging scans in sickle-cell disease. Neurological correlates and clinical implications.

OBJECTIVE: Eight asymptomatic patients with sickle-cell disease (SCD) with magnetic resonance imaging (MRI) abnormalities consistent with cerebral infarcts (group 1) and eight asymptomatic patients with SCD with normal MRI scans (group 2) were followed up to assess the neurological correlates and the clinical outcome. DESIGN: Patients in the two cohorts underwent clinical evaluations and xenon 133 regional cerebral blood flow (rCBF) studies within 1 month of the entry MRI. This study sequence was repeated up to 5 years later. Neuropsychological studies also were performed in six group 1 patients and eight group 2 patients at the end of the study. SETTING: The patients were recruited from the Comprehensive Sickle Cell Center at Columbia University, New York, NY. PATIENTS: All patients had SCD, hemoglobin SS, and normal findings on clinical evaluation at entry. The group 1 cohort had clinically silent MRI abnormalities consistent with cerebral infarction. The group 2 cohort was age matched to group 1 and had normal MRI studies. INTERVENTIONS: None. MAIN OUTCOME MEASURE: The natural history of MRI abnormalities and the neurological correlates were assessed to determine the predictive value of subclinical MRI lesions as a risk factor for clinically apparent stroke. RESULTS: The mean duration of MRI follow-up was 3.7 years. In group 1, four patients (50%) demonstrated progressive MRI abnormalities and three patients (38%) became clinically symptomatic. In group 2, findings for all patients remained normal on clinical and radiological examination. Both groups had markedly elevated rCBF values. Individual rCBF differences correlated with the specific MRI abnormalities. The psychometric study results were similar in the two cohorts. Eighty-three percent of group 1 and 88% of group 2 patients had defective scores in one or more areas of cognitive functioning. Three patients met cognitive criteria for dementia. CONCLUSIONS: Cranial MRI abnormalities have important prognostic implications even when detected in clinically asymptomatic patients. Cognitive abnormalities exist in patients with SCD even in the absence of MRI abnormalities or clinical stroke.

Adolescent↗
PubMed2006

Relation of quantitative indexes of concurrent alpha-synuclein abnormalities to clinical outcome in autopsy-proven Alzheimer disease.

BACKGROUND: Lewy bodies (LBs) and Lewy neurites are frequent concomitant neuropathologic observations in clinical and neuropathologically defined Alzheimer disease (AD), but their relation to clinical features in AD is uncertain. Most studies used semiquantitative measures to determine the presence or absence of LB abnormalities. OBJECTIVE: To determine the clinical consequences of LB abnormalities in the setting of AD. DESIGN: Prospective study. SETTING: Three outpatient research and treatment centers. PARTICIPANTS: Fourteen autopsy cases with a pathologic diagnosis of AD abnormalities and concomitant LBs followed semiannually for up to 8 years (mean age at intake, 72 years; mean age at death, 77 years; mean education, 15 years; 12 women). MAIN OUTCOME MEASURES: The modified Mini-Mental State Examination was used to assess cognitive function. The Unified Parkinson Disease Rating Scale was used to rate extrapyramidal motor signs. Hallucinations were evaluated using the Columbia University Scale for Psychopathology in Alzheimer's Disease. Time from the first evaluation in which diagnostic criteria for probable AD were met to death was used to determine illness duration. Quantitative measures of LB abnormalities were obtained for the frontal cortex, entorhinal cortex, substantia nigra, and hippocampus. RESULTS: Independent-samples t tests were used to assess whether the degree of LB abnormality varied as a function of the presence or absence of hallucinations and extrapyramidal signs. Pearson r correlations were run to examine whether there was a relation among LB abnormalities, cognitive function, and illness duration. There was no relation between quantitative neuropathologic indexes of LB abnormalities and clinical outcome. CONCLUSION: The variability of clinical features in AD was not related to the presence or degree of LB abnormalities.

Aged↗
PubMed1999

Prognostic value of a treadmill exercise score in symptomatic patients with nonspecific ST-T abnormalities on resting ECG.

CONTEXT: Exercise testing of patients with ST-T abnormalities on the resting electrocardiogram (ECG) is problematic because in the presence of pre-existing ST-T abnormalities, the exercise test is less specific for the diagnosis of coronary artery disease. The prognostic capability of the Duke treadmill score in patients with ST-T abnormalities vs those with normal findings on resting ECG has, to our knowledge, not been evaluated. OBJECTIVE: To compare the prognostic accuracy of the Duke treadmill score in patients with nonspecific ST-T abnormalities vs those with normal results on resting ECG. DESIGN: Inception cohort study with 7 years of follow-up. SETTING: Nuclear cardiology laboratory of a US referral center. PATIENTS: All symptomatic patients who underwent exercise thallium testing between 1989 and 1991,939 of whom had nonspecific ST-T abnormalities and 1466 of whom had normal findings on resting ECG. Exclusion criteria included congenital, valvular, or cardiomyopathic heart disease; prior coronary artery revascularization; resting ECG with secondary ST-T abnormalities; or missing data. MAIN OUTCOME MEASURES: Rates of overall mortality and cardiac death for subjects classified by Duke treadmill score risk group. RESULTS: For the end point cardiac death, 7-year survival in the study population in the low-, intermediate-, and high-risk groups was 97%, 92%, and 76%, respectively (P<.001). Compared with the control group, the study group had lower 7-year survival (94% vs 98%; P<.001), fewer low-risk patients (426 [45%] vs 811 [55%]; P<.001) with worse 7-year survival (97% vs 99%; P= .008), and more high-risk patients (49 [5%] vs 34 [2%];P<.001) with a nonsignificant trend toward worse 7-year survival (76% vs 93%; P= .36). CONCLUSIONS: The Duke treadmill score can effectively risk-stratify patients with ST-T abnormalities on the resting ECG. In classified risk categories, patients with ST-T abnormalities have a worse prognosis than those with normal results on resting ECG.

Aged↗
PubMed1999

Efficiency of prostate-specific antigen and digital rectal examination in screening, using 4.0 ng/ml and age-specific reference range as a cutoff for abnormal values.

BACKGROUND: The purpose of this study was to examine the diagnostic efficiency of prostate-specific antigen (PSA) and digital rectal examination (DRE) testing when using either 4.0 ng/ml or an age-specific reference range (ASRR) as an abnormal cutoff PSA value. METHODS: Between 1992-1995, 116,073 men, aged 40-79 years, were screened during Prostate Cancer Awareness Week. When using a 4.0-ng/ml cutoff PSA value, 22,014 had either an abnormal PSA, an abnormal DRE, or both. When using an ASRR cutoff PSA value, 17,561 had either an abnormal PSA, an abnormal DRE, or both. The positive predictive value (PPV), sensitivity, and specificity of PSA, DRE, and combined PSA and DRE tests were evaluated. RESULTS: When using a 4.0-ng/ml cutoff PSA value, the PPVs of abnormal PSA alone, abnormal DRE alone, and combined abnormal PSA and DRE tests were 27.7%, 17.7%, and 56.0%, respectively. Sensitivities were 34.9%, 27.1%, and 38.0%, respectively. Specificities were 63.1%, 49.0%, and 87.9%, respectively. When using an ASRR cutoff PSA value, the PPVs of each category were 31.8%, 20.8%, and 63.7%, respectively. Sensitivities were 27.1%, 41.0%, and 31.8%, respectively. Specificities were 75.0%, 32.8%, and 92.2%, respectively. The PPVs of the PSA test were higher than those of the DRE. The PPVs of combined tests were highest when using either a 4.0-ng/ml cutoff PSA value or an ASRR cutoff PSA value (all P < 0.001). When using an ASRR, the PPVs of PSA, DRE, and combined tests were higher than those when using a 4.0-ng/ml without statistical significance (all P > 0.05). Sensitivity of PSA when using an ASRR was lower than when using 4.0 ng/ml. CONCLUSIONS: Significantly higher PPVs indicated that utilizing both a PSA test and a DRE is most effective in screening for the early detection of prostate cancer. Although higher PPVs when using an ASRR cutoff PSA value suggested fewer unnecessary biopsies, lower sensitivities resulted in fewer cancers detected. Thus, we recommend that the combination of a PSA test with a cutoff value of 4.0 ng/ml and a DRE should continue to be utilized in the screening programs.

Adult↗
PubMed1996

Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study.

Among 179,663 prenatal diagnosis cases collected from ten institutions and two publications, 555 (0.3 per cent) were diagnosed as having chromosome mosaicism. Of these, 57 (10.3 per cent) were mosaic for an autosomal structural abnormality, 28 (5 per cent) for a sex chromosome structural abnormality, and 85 (15.3 per cent) were mosaic for a marker chromosome. Ninety-five cases of prenatally diagnosed mosaicism with a structural abnormality in an autosome and a normal cell line, and with a known phenotypic outcome, were collected for karyotype-phenotype correlations through our collaboration (40 cases), a prior survey (26 cases), and published reports (29 cases). They included 13 balanced reciprocal translocations, one unbalanced reciprocal translocation, four balanced Robertsonian translocations, four unbalanced Robertsonian translocations, four inversions, 17 deletions, three ring chromosomes, 19 i(20q), seven +i(12p), six other isochromosomes, and 17 partial trisomies resulting from a duplication or other rearrangement. All cases mosaic for a balanced structural rearrangement resulted in a normal phenotype. All cases of 46/46,i(20q) resulted in normal liveborns. Five of seven cases with 46/47,+i(12p) had an abnormal phenotype compatible with Killian-Pallister syndrome. The overall risk for an abnormal outcome for a mosaic case with an unbalanced structural abnormality, excluding 46/46,i(20q) and 46/47,+i(12p), is 40.4 per cent. In the same category, the study also suggested a correlation between the percentage of abnormal cells and an abnormal phenotype. For mosaicism involving a terminal deletion, the possibility of a familial fragile site should be considered.

Amniocentesis↗
PubMed1975

Biological markers in breast carcinoma. I. Incidence of abnormalities of CEA, HCG, three polyamines, and three minor nucleosides.

Patients with breast carcinoma were screened for abnormal concentrations of CEA, HCG, putrescine, spermidine, spermine, pseudouridine, N2, N2-dimethylguanosine, and 1-methylinosine. Abnormal polyamine levels occurred in less than 15% of the patients. Among the nucleosides, N2, N2-dimethylguanosine was the most frequently abnormal, occurring in 57% of the patients with metastatic disease. CEA levels were abnormal in 30% of postoperative N+ patients and 74% of patients with metastatic disease, while HCG elevations were found in 45% and 50%, respectively. All the patients with one or more marker abnormalities could be detected by measuring only CEA, N2, N2-dimethylguanosine, and HCG. Among these three tests, a singular marker abnormality occurred in 35.8% of the patients, and all three tests were abnormal in 21.8% of the patients. The performance of these three tests in each patient revealed one or more abnormalities 97% of the patients with metastatic disease, and 67% of the postoperative N+ patients.

Breast Neoplasms↗
PubMed1990

Frequent occurrence of cytogenetic abnormalities in sporadic nonmedullary thyroid carcinoma.

Cytogenetic studies may provide important clues to the molecular pathogenesis of thyroid neoplasia. Thus, the authors attempted cytogenetic studies on 12 thyroid carcinomas: seven papillary, three follicular, and two anaplastic. Successful cytogenetic results were obtained on all 12 tumors; nine (75%) had one or more chromosomally abnormal clones. Four of the papillary carcinomas had a simple clonal karyotype, and three had no apparent chromosome abnormality. All four abnormal papillary tumors contained an anomaly of a chromosome 10q arm. In one instance, an inv(10)(q11.2q21.2) was observed in a Grade 2 papillary carcinoma as the sole acquired abnormality. In another case, an inversion or insertion involving 10q21.2 was found in a Grade 1 papillary tumor. The karyotype of a third tumor, a Grade 1 papillary carcinoma, was 46,XX,der(5)t(5;10)(p15.3;q11),der(9)t(9;?)(q11;?). A fourth abnormal papillary carcinoma, a Grade 1 tumor, had a t(6;10)(q21;q26.1) as the sole abnormality. Each of the five follicular or anaplastic carcinomas had a complex clonal karyotype. The three follicular carcinomas contained an abnormality of 3p25-p21, along with several other chromosome abnormalities.

Adenocarcinoma↗
PubMed2000

Surveillance for uterine abnormalities in tamoxifen-treated breast carcinoma survivors: a community based study.

BACKGROUND: Tamoxifen-treated breast carcinoma survivors are at elevated risk of endometrial carcinoma. Whether to recommend annual surveillance for uterine abnormalities in this population is currently under debate. METHODS: This study was a cross-sectional, community-based investigation of tamoxifen use and the frequency of surveillance for endometrial carcinomas in 541 women with breast carcinoma. Study participants whose breast carcinoma was diagnosed in 1994 were interviewed in 1998. Data were collected from a telephone interview and from a cancer registry record. Tests for uterine abnormalities, based on participant reports of endometrial biopsy and transvaginal ultrasound, were categorized according to frequency. Testing for uterine abnormalities was defined as irregular if women reported tests once every 3 years, on average, and as regular, if they reported annual tests. RESULTS: Forty-nine percent of respondents were current tamoxifen users, 12% were former tamoxifen users, and 39% reported never taking tamoxifen. Of respondents with a uterus (n = 385), 19% reported irregular and 30% regular testing for uterine abnormalities after their breast carcinoma diagnosis. Respondents more frequently reported transvaginal ultrasound (37%) than endometrial biopsy (29%). Women 65 years of age and older were significantly less likely to report regular surveillance for uterine abnormalities (16%) than those younger than 65 years (35%). Current tamoxifen users more frequently reported regular surveillance (43%) than either former (35%) or never tamoxifen users (15%). Multivariable analyses showed tamoxifen users were more likely to have regular (odds ratio [OR], 9.8; 95% confidence interval [CI], 4.4-21.8) or to have irregular testing for uterine abnormalities (OR, 3.9; 95% CI, 1.9-8.1) compared with women who never used tamoxifen, after adjustment for age, number of recent gynecologic visits, and gynecologic symptoms. CONCLUSIONS: The results of the current study indicate that half of the breast carcinoma survivors in this population were tested for uterine abnormalities. Although at increased risk, 38% of tamoxifen users never had a test. Clear guidelines need to be established for the type and frequency of testing for uterine abnormalities among tamoxifen-treated breast carcinoma patients.

Adult↗
PubMed2002

Apparently unrelated cytogenetic abnormalities among 462 probands referred for the detection of del(22q) by FISH.

Laboratory-based reports of the cytogenetic abnormalities detected during the course of testing for deletion del(22q) are scant. We report our findings from the testing with FISH of 462 patients suspected to have del(22q) between 1994 and 2000. Of these, 447 had a normal karyotype. An apparently unrelated cytogenetic abnormality was detected in 15 (3.2%). Two of these abnormalities involved reciprocal translocation with chromosome 22q and one of these showed del(22q) with FISH. The other abnormalities included sex chromosome aneuploidies and unbalanced rearrangements of various chromosomal segments. There was no commonality among these abnormalities and no correlation with other reported cases. Among those with a normal karyotype, an unexpected deletion of the control arylsulphatase A (ARSA) probe was found, providing a definite frequency of 1/262 for ARSA deletions among patients suspected to have del(22q). Of the 462 referrals, 48 (10%) had one or more additional diagnoses, and in this group, 4 (8%) had del(22q) and 2 (4%) had an apparently unrelated cytogenetic abnormality. The data highlight the importance of initial cytogenetic analysis in patients suspected of del(22q) and negates the use of interphase FISH screening by itself for del(22q). The finding of 3.2% unrelated cytogenetic abnormalities is noteworthy. FISH should be used in any structural rearrangement to ascertain if the relevant locus is deleted or not. The continued reporting of patients diagnosed with del(22q) found to have an unrelated cytogenetic abnormality will expand the phenotypic spectrum and possible gene mapping may refine phenotypic specificity.

Adolescent↗
PubMed2003

Pregnancy outcome and prenatal diagnosis of sex chromosome abnormalities in Hawaii, 1986-1999.

Sex chromosome abnormalities such as Turner syndrome, Klinefelter syndrome, triple X syndrome, and 47,XYY can be prenatally diagnosed and electively terminated. This investigation examined the pattern of pregnancy outcome of prenatally and postnatally diagnosed sex chromosome abnormalities in Hawaii during 1986-1999 and calculated prenatal diagnosis and subsequent elective termination rates for various factors. Data were obtained from a statewide population-based birth defects registry. The study included 205 detected sex chromosome abnormality cases of which 93 (45%) were live births, 18 (9%) late fetal deaths, 37 (18%) early fetal deaths, and 57 (28%) elective terminations. Pregnancy outcome distribution varied by type of sex chromosome abnormality. Prenatal diagnosis was reported for 132 (64%) of the cases, of which 46 (35%) were subsequently electively terminated. Eleven cases were elective terminations where the sex chromosome abnormality was diagnosed after delivery. Elective termination rates subsequent to prenatal diagnosis differed by sex chromosome abnormality, being highest for 45,X (54%), followed by 47,XXY (46%), 47,XYY (29%), and 47,XXX (17%). Although prenatal diagnosis rates increased significantly over the time period (P = 0.006), the subsequent elective termination rate declined slightly, albeit the trend was not statistically significant (P = 0.440). The prenatal diagnosis rate was highest for the 35-39-year maternal age group, although this age group did not have subsequent elective termination rates higher than other maternal age groups. Pregnancy outcome distribution and prenatal diagnosis and subsequent elective termination of sex chromosome abnormalities appeared to depend on the type of sex chromosome abnormality, year of delivery, and maternal age.

Abortion, Legal↗
PubMed1993

Comparison of shortening with timing of wall motion in detecting regional abnormalities of the left ventricle in coronary disease.

Clinical observations suggest that ischemic myocardium may demonstrate delayed wall motion while absolute shortening remains normal. Wall motion timing and percent shortening were examined in 25 patients (7 normal, 18 coronary disease) with 35 mm biplane left ventriculograms and coronary arteriography. Mean age was 63 +/- 2.4 years. Of 17 males and 8 females, 13 had 3 vessel, 4 had 2 vessel, and 1 had 1 vessel disease. Left ventricular regions were analyzed using the Coronary Artery Surgery Study nomenclature and quantitative computer-based analysis as well as visual based qualitative analysis. Regional percent shortening and ejection fraction were calculated from end systolic and end diastolic frames. Regional shortening times were related to global ejection time from 30 frame/sec, frame by frame analysis. Feeder arteries were stenosed ( > 70%) in 135 of 225 left ventricular regions analyzed. Computer detection (shortening and timing) identified 97/225 as abnormal (p < 0.01 vs. feeder artery stenosis) while physicians identified 79/225 as abnormal (p < 0.01 vs. feeder artery stenosis). Of the 97 computer detected abnormal regions, shortening alone detected 47, timing alone detected 39, and 11 showed both abnormalities. Timing analysis increased detection of wall motion abnormalities from 58/225 (26%) to 97/225 (43%) (p < 0.001). Timing abnormalities were noted more (92%) in basal segments, while shortening abnormalities dominated (88%) in apical segments (p < 0.001). Use of temporal measurements in wall motion analysis significantly increases the likelihood of detecting abnormal left ventricular regional wall motion when compared to shortening measurements alone.

Coronary Angiography↗
PubMed2003

Hemodynamic changes and prognosis in patients with hypertrophic cardiomyopathy and abnormal blood pressure responses during exercise.

BACKGROUND: An abnormal blood pressure response (BPR) during exercise has been proposed as a risk factor for sudden cardiac death in patients with hypertrophic cardiomyopathy (HCM). Some patients with HCM show systolic dysfunction during exercise. HYPOTHESIS: The aim of this study was to clarify the hemodynamic response during exercise and prognosis in patients with HCM and abnormal BPR. METHODS: Sixty-five patients with HCM underwent radionuclide monitoring of left ventricular function and measurement of blood pressure during supine ergometer exercise. Thereafter, cardiac events were recorded for an average period of 76 months. RESULTS: Seven of 65 patients had abnormal BPR, while the others had normal BPR. Changes of heart rate and systemic vascular resistance during exercise did not differ between the two groups. Stroke volume did not increase in the abnormal BPR group but did in the normal BPR group. During a mean follow-up period of 76 months, three of the seven patients (43%) with abnormal but only one patient (2%) with normal BPR suffered a malignant arrhythmia. CONCLUSIONS: Abnormal BPR occurred in about 11% of patients with nonobstructive HCM and was associated with a high prevalence of cardiac events. The predictor of abnormal BPR during exercise may not be an abnormal response of systemic vascular resistance and heart rate, but the lack of an appropriate increase in stroke volume.

Blood Pressure↗