Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The report describes the case of a 7,9-year-old boy who seems to have clinically the same syndrome described by Ruvalcaba et al. in 1971 and uncertified till now. The propositus in characterized by severe mental retardation, peculiar facies, osseous dysplasia (including clinodactilism), urogenital and skin abnormalities, congenital heart disease (missing to the mentioned author's cases). In contrast with the normal karyotype of Ruvalcaba et al. cases, the boy shows a familial 13/14 Robertsonian translocation, karyotype 45,XY,-13,-14, t (13q14q). The boy's father, not entirely clinically investigated, shows apparently only clinodactilism, but cytogenetically the same chromosomal aberration. The mother is clinically and cytogenetically normal. The boy's grandmother (father's side) has had clinically clinodactilism and heart disease; her karyotype is unknown. The syndrome of the propositus presented in our study is identical clinically, but differs cytogenetically to the one described in "a new familial syndrome with osseous dysplasia and mental deficiency" by R. H. A. Ruvalcaba et al. It is not out of the question that the father's and boy's translocation should be balanced, irrespective of the morphological abnormalities and fortuitous associated with them the more so as to the same karyotype, the boy's and father's phenotype have few common features.
Klin Padiatr 1978 Sep
PMID:[About "a new syndrome" associated with a familial translocation 13/14 (author's transl)]. 56 1

Apexcardiograms were performed in 68 consecutive patients who had either normal findings or coronary artery disease on cardiac catheterization. The height of the a wave in relation to the total apexcardiographic deflection (a/H) and the duration of both the rapid (RFW) and the slow (SFW) filling periods were determined in each case. The patients were classified into three gorups: I, no evidence of heart disease on catheterization; II, significant coronary artery disease with elevated left ventricular end-diastolic pressure; and III, coronary artery disease with normal filling pressure. There was a significant difference (P less than 0.001) between the SFW/RFW values (mean +/- 1 standard deviation) in control subject (group I, 2.3 +/- 0.5) and in subjects with coronary artery disease (group II, 4.7 +/- 1.6 and group III, 4 +/- 1.7). Setting the upper limit of normal for SFW/RFW at 2.8 (mean + 1 standard deviation) identified 94 percent of patients, in group II, 71 percent of patients in group III and 86 percent of all patients with coronary disease (group II plus group III). This sensitivity appeared greater than that of the a/H ratio. Only 2 of 17 patients (12 percent) without coronary atherosclerosis had an SFW/RFW ratio greater than 2.8. It is concluded that (1) the slow/rapid filling period ratio is a useful noninvasive measurement for identifying subjects with ischemic heart disease; (2) the increased values for slow/rapid filling period ratio associated with obstructive coronary lesions may be caused by impairment of early left ventricular distensibility; and (3) this ratio should be determined in patients with other forms of heart disease to determine its specificity.
Am J Cardiol 1978 Sep
PMID:Slow filling period/rapid filling period ratio in the apexcardiogram: relation to the diagnosis of coronary artery disease. 68 50

Gout is rarely noted as a clinical problem in secondary polycythemia-- even if profound polycythemia exists, as in cyanotic congenital heart disease. A retrospective study of 81 patients with congenital heart disease was done to assess the incidence of hyperuricemia. Twenty of 46 patients with cyanotic congenital heart disease had serum levels of uric acid greater than 8 mg/dl. Thirteen of 16 (81%) cyanotic male patients more than 15 years old had serum levels greater than 8 mg/dl. For cyanotic patients, serum levels of uric acid were related directly to the degree of polycythemia (r = .44; P less than .02). Impaired renal function or drug therapy did not seem to account for the hyperuricemia. Because levels of uric acid greater than 10 mg/dl probably are nephropathic, many of these patients may be incurring subclinical uric acid nephropathy.
Am J Dis Child 1978 Sep
PMID:Hyperuricemia in congenital heart disease. 68 9

Plain roentgenography of congenital heart disease in newborn is subject to narrow diagnostic limitations. The cardiac abnormalities should preferably be classified according to haemodynamic criteria. In most cases the diagnostic information is restricted to the statement whether the malformation detected plain roentgenography is associated with normal, increased or decreased pulmonary perfusion. Most cardiac abnormalities occur in conjunction with a more or less pronounced cardiomegaly, and only the tetralogy of Fallot, tricuspid atresia, and total anomalous pulmonary venous drainage are associated with a heart of normal or only slightly enlarged size. Configurations which are considered as being typical of congenital heart disease are only seen in the tetralogy of Fallot and in tricuspid atresia (wooden shoe deformity) on the one hand, and in the transposition of the great arteries and the truncus arteriosus on the other eggshaped heart). Differentiation between these malformations of the heart is sometimes possible via the position of the aortic arch. The factors mainly responsible for the development of cardiac insufficiency during the first few days of life should be the coarctation of the aorta and the hypoplastic left-heart syndrome.
Rontgenblatter 1978 Sep
PMID:[Plain roentgenography findings of congenital heart disease (author's transl)]. 69 85

The development of the electrocardiograph was the culmination of a scientific effort aimed at perfection of a device conceived for the elucidation of a physiologic phenomenon. The development of the digital computer was the culmination of a scientific effort aimed at perfection of warfare. Both of these fairly recent innovations of modern technology have been moderately successful in their initial objectives. Electrocardiography has had a profound influence on the practice of medicine. On the global scene, computers have so far had an insignificant influence on the practice of electrocardiography. In North America, however, computer interpretation of ECGs has already made a modest impact, perhaps more in terms of commercial gains rather than producing a substantial benefits to health care. The introduction of computers into clinical electrocardiography has not resulted in any widespread application of improved diagnostic criteria. The automation of ECG interpretation has not resulted in reduction of the cost of health care, on the contrary, in general it has increased the cost. Perhaps the most dismal failure has been the negligible use of computers in epidemiologic studies and heart disease prevention efforts. Palmistry, astrology, the art of palpation of the pulse, auscultation and acupuncture have had a more profound influence on the practice of medicine than computer analysis of the electrocardiogram. On the positive side, one of the beneficial effects of the use of computers has been the increasing awareness of the limited diagnostic accuracy of currently used ECG criteria, and the recognition of the fact that a substantial improvement is warranted; if such improvement can not be achieved in the foreseeable future, electrocardiography will lose much of its current clinical utility. Computers have had a profound influence on research in electrocardiology, and although a very few tangible concrete results have thus far diffused into clinical electrocardiography, their impact can be expected during the last two decades of this century. Computers will produce at least containment of costs if not actual net cost reduction in clinical electrocardiography. Computer analysis will rapidly antiquate the present primitive visual ECG classification in epidemiologic studies and clinical heart disease intervention trials. Computer analysis will enhance the diagnostic accuracy of the electrocardiogram. However, a radical departure from the current ECG display and interpretation practice will be mandatory before any substantial breakthrough can be materialized. All these anticipated evolutionary and perhaps even revolutionary changes will require a continuing intensive research effort, a change in the professional attitude of practicing electrocardiographers and a considerable effort in professional education. Finally, the elucidation and exploration of the full diagnostic and predictive value of the ECG remains the challenge of first magnitude in electrocardiography...
Eur J Cardiol 1978 Sep
PMID:The impact of computers on electrocardiography. 69 51

Seven human fetuses with intermittently recurring cardiac arrhythmias of ectopic origin were studied intensively during labor and the early neonatal period. Neonatal outcome, judged by Apgar scores and neonatal acid-base parameters, was favorable in all 7 patients. Three of the seven arrhythmias reverted spontaneously to sinus rhythm within 72 hours, and six of the seven resolved by 5 days of age. One neonate, with supraventricular tachycardia, developed congestive heart failure, necessitating digitalization, but was free of symptoms at 6 weeks and showed no evidence of congenital heart disease. The literature on fetal cardiac arrhythmias is reviewed. A number of etiologic mechanisms and several methods of pharmacologic therapy of these irregularities have been proposed. These cases suggest, however, that fetal arrhythmias of ectopic origin need not represent signs of fetal distress or cardiac anomaly and may be inocuous. Evidence to date indicates that in utero pharmacologic treatment of fetal arrhythmias is not indicated.
Obstet Gynecol 1978 Sep
PMID:Fetal arrhythmia. 70 86

In twenty patients with advanced heart disease with severe cardiac failure and the presence of conduction disturbances before digitalis therapy, but in whom such disturbances were worsened or revealed by the treatment, it was necessary to insert a permanent pacemaker in order to make effective long term digitalisation possible without the risk of excessive bradycardia or pauses due to worsening of atrioventricular block. Six patients died within a period of 9 days to 34 months after insertion of the pacemaker, two were lost from sight, and the other 12 were followed-up regularly for an average period of 20 months, their condition remaining stationary and, in general, satisfactory.
Nouv Presse Med 1978 Sep 09
PMID:[An indication for a permanent pacemaker : digitialis therapy for cardiac failure with disturbed atrioventricular conduction (author's transl)]. 70 14

This communication presents our experience with 14 cases of congenital heart disease associated with anomalous muscle bundle inside the right ventricular cavity dividing it into two chambers. The clinical picture, natural history, and diagnostic characteristics are described. It can be diagnosed by right ventricular cineangiogram in the anteroposterior position. It can be resected surgically, safely.
Br Heart J 1978 Sep
PMID:Anomalous muscle bundle of the right ventricle. Its recognition and surgical treatment. 70 29

Two patients with renal arteriovenous fistulae are described, who presented in high output failure. Murmurs were detected in these patients on routine physical examination years before, and when cardiac failure ensued they were assumed to have decompensated valvar heart disease. Full investigation revealed the arteriovenous fistulae and both patients made a good recovery after surgical ligation.
Br Heart J 1978 Sep
PMID:Renal arteriovenous fistula masquerading as severe valvar heart disease. 70 38

Abnormal systolic interventricular septal motion is an echocardiographic manifestation of right ventricular volume overload. In order to determine the anatomical basis for this echocardiographic finding, septal motion recorded by left lateral or left anterior oblique ventriculograms was compared with echocardiography ventricular septal motion. Thirteen patients with secundum atrial septal defects and 7 control patients with trivial or no heart disease were included in the study. We found that on ventriculograms the systolic motion of the interventricular septum was similar in both atrial septal defect and control patients. That is, the cephalic third of the septum moved anteriorly in systole in 9 of the 13 patients with atrial septal defect and in 3 of the 7 controls. The caudal two-thirds of the septum moved posteriorly in all patients. These results are compatible with the theory that argues that the echocardiographic abnormalities of septal motion in patients with atrial septal defect result from an end-diastolic septal flattening or bowing of the septum into the cavity of the left ventricle.
Br Heart J 1978 Sep
PMID:Comparison of interventricular septal motion studied by ventriculography and echocardiography in patients with atrial septal defect. 70 40


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