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Biomedical subjects

J K Perloff

Publications and source records attributed to J K Perloff.

At least 73 records · Page 4Linked to original sources
PubMed1986

Renal function and urate metabolism in late survivors with cyanotic congenital heart disease.

Diminished glomerular filtration rate, proteinuria, and large hypercellular congested glomeruli with segmental sclerosis are found in late survivors with cyanotic congenital heart disease (CCHD). Hyperuricemia is common, acute gouty arthritis is less common than uric acid levels would predict, and overt tophaceous deposits of uric acid are exceptional. The role of the kidney in causing the basic biochemical disturbances, and the relative importance of impaired urate excretion vs urate overproduction have not been established. Accordingly, we reviewed the courses of two index patients and prospectively studied eight additional CCHD patients from 28 years to 46 years old with mean hematocrits of (62 +/- 10%). Plasma creatinine concentration was normal (0.9 +/- 0.1 mg/dl) yet glomerular filtration rate was mildly reduced to 93 +/- 14 ml/min as measured by creatinine clearance and to 81 +/- 6 ml/min as measured by 111In DTPA. Three patients had significant proteinuria and one was nephrotic. Plasma uric acid concentration was high in all but one (8.2 +/- 2.1 mg/dl), mean 24 hr uric acid excretion was normal (564 +/- 221 mg), and fractional uric acid excretion was relatively low (6.3 +/- 2.6%). The two patients with highest plasma uric acid levels (12.0 and 10.2 mg/dl) had the lowest fractional excretions (2.8% and 4.0%). Both of these patients had diminished capacity to excrete a water load (38% and 27%/4 hr) and to maximally concentrate urine (520 and 635 mOsm/kg after water deprivation and vasopressin). In conclusion, high plasma uric acid levels in late survivors with CCHD are secondary to inappropriately low fractional uric acid excretion, not to urate overproduction.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1986

Dynamics of oxygen uptake during exercise in adults with cyanotic congenital heart disease.

The dynamic increase in oxygen uptake (VO2) at the start of exercise reflects the circulatory adjustments to metabolic changes induced by the exercise. Because VO2 measured at the lungs is the product of pulmonary blood flow and arteriovenous oxygen difference, pathologic conditions affecting the capacity of these factors to change would be expected to alter VO2 kinetics. To determine whether measurement of VO2 kinetics can detect conditions in which the pulmonary blood flow response to exercise is abnormal, VO2 was measured, breath-by-breath, during the transition from rest to exercise in 13 adults with cyanotic congenital heart disease (central venoarterial shunting) and in nine normal subjects. The increase in VO2 above baseline during the first 20 sec of exercise (phase I), reflecting the immediate increase in pulmonary blood flow, was diminished in the patients compared with that in normal subjects (14.8 +/- 10.9 vs. 49.8 +/- 19.2 ml of oxygen) (p less than .001). The patients' phase I responses correlated with their reported physical activity tolerance (p less than .01). In addition, the second phase of the VO2 response kinetics was prolonged in patients compared with normal subjects (half-time = 63 +/- 13 vs 15 +/- 13 sec) (p less than .001). We conclude that striking disturbances in VO2 kinetics occur in patients with cyanotic congenital heart disease and that these measurements provide a useful noninvasive means of evaluating the degree to which the increase in pulmonary blood flow is constrained in response to exercise.

Adult↗
PubMed1985

Upper limb malformations associated with congenital heart disease.

Upper limb malformations occur in patients with congenital heart disease as multifactorial, chromosomal or teratogenic combinations, and can be predictable (nonrandom) or sporadic (random) associations. The cardiac and limb defects represent either essential features of a syndrome or less common or less significant components. A practical classification is proposed based on the frequency and relative consistency of upper limb and cardiac associations. Recognition of upper limb malformations helps to identify accompanying cardiac disease and aids in the choice of diagnostic and therapeutic interventions in determination of prognosis and in genetic counseling. Upper limb malformations are the commonest skeletal abnormalities in patients with congenital heart disease, but it is also important to know with which limb defects concordance is low.

Abnormalities, Multiple↗
PubMed1984

Cardiac involvement in myotonic muscular dystrophy (Steinert's disease): a prospective study of 25 patients.

The presence, degree and frequency of disorders of cardiac conduction and rhythm and of regional or global myocardial dystrophy or myotonia have not previously been studied prospectively and systematically in the same population of patients with myotonic dystrophy. Accordingly, 25 adults with classic Steinert's disease underwent electrocardiography, 24-hour ambulatory electrocardiography, vectorcardiography, chest x-rays, echocardiography, electrophysiologic studies, and technetium-99m angiography. Clinically important cardiac manifestations of myotonic dystrophy reside in specialized tissues rather than in myocardium. Involvement is relatively specific, primarily assigned to the His-Purkinje system. The cardiac muscle disorder takes the form of dystrophy rather than myotonia, and is not selective, appearing with approximately equal distribution in all 4 chambers. Myocardial dystrophy seldom results in clinically overt ventricular failure, but may be responsible for atrial and ventricular arrhythmias. Since myotonic dystrophy is genetically transmitted, a primary biochemical defect has been proposed with complete expression of the gene toward striated muscle tissue, whether skeletal or cardiac. Specialized cardiac tissue and myocardium have close, if not identical, embryologic origins, so it is not surprising that the genetic marker affects both. Cardiac involvement is therefore an integral part of myotonic dystrophy, targeting particularly the infranodal conduction system, to a lesser extent the sinus node, and still less specifically, the myocardium.

Adult↗
PubMed1984

Primary hemochromatosis: anatomic and physiologic characteristics of the cardiac ventricles and their response to phlebotomy.

M-mode and 2-dimensional echocardiography and gated equilibrium blood pool imaging (rest and exercise) were used in 10 patients with primary hemochromatosis to characterize the spectrum of pathophysiologic abnormalities of the cardiac ventricles and to determine the response to chronic therapeutic phlebotomy. Dilated and restrictive cardiomyopathic patterns were identified in 1 patient each, but our data do not permit conclusions on when in the natural history a given pattern becomes overt. On entry into study, 3 patients had normal ventricles and 7 had ventricular abnormalities on echocardiography and blood pool angiography. In 2 of the latter patients, biventricular dysfunction and increased left ventricular (LV) mass normalized after phlebotomy; 1 patient achieved a normal LV response to exercise. Of the 4 patients with isolated abnormal LV ejection fraction responses to exercise, the EF normalized in 2 after phlebotomy. In 1 patient, isolated right ventricular enlargement and dysfunction (echocardiographic and radionuclide imaging) normalized after phlebotomy. Thus, primary hemochromatosis can effect LV and RV size and function; clinically occult cardiac involvement can be identified by echocardiography and equilibrium blood pool imaging; therapeutic phlebotomy can ameliorate or reverse the deleterious effects of excess cardiac iron deposition which appears to exert its harm, at least in part, by a mechanism other than irreversible connective tissue replacement.

Adult↗
PubMed1984

Thrombolytic therapy for superior vena caval thrombosis following superior vena cava-pulmonary artery anastomosis.

Immediate postoperative thrombosis of left superior vena cava-left pulmonary artery anastomosis in a modified Fontan procedure for single ventricle and pulmonary artery stenosis is described. Before thrombolytic therapy with streptokinase is initiated, confirmation of thrombosis by venography is mandatory to lessen the risk of cardiac tamponade or hemothorax. By this technique major surgical intervention is avoided, but close attention to the dose of streptokinase and the coagulation profile is essential. Measures to be taken if bleeding occurs with streptokinase therapy are described.

Adult↗
PubMed1984

Surgical correction of pulmonary atresia and ventricular septal defect with large systemic-pulmonary collaterals.

A two-stage surgical procedure was performed in a young adult with pulmonary atresia and a ventricular septal defect with upper lobe pulmonary artery flow from confluent central pulmonary arteries and lower lobe pulmonary blood flow originating from two large systemic-pulmonary collaterals. Initially a Dacron Y graft was anastomosed between the ascending aorta and the collaterals and a graft to the left pulmonary artery. At the second operation, continuity was established between the right ventricle and the Y graft by using a valved Dacron conduit and the ventricular septal defect was closed.

Adult↗
PubMed1984

Cardiac rhythm and conduction in Duchenne's muscular dystrophy: a prospective study of 20 patients.

This study was designed to determine the types and prevalence of rhythm and conduction disturbances in Duchenne's muscular dystrophy, and examine the results in light of known morphologic abnormalities of the myocardium and the small coronary arteries, and in the context of left ventricular function, regional wall motion, mitral valve prolapse and left atrial size. The observed disorders of impulse and conduction extended from the sinus node to the His-Purkinje system. Rhythm disturbances included persistent and labile sinus tachycardia (gradual or abrupt), sinus arrhythmia, sinus pauses, atrial ectopic beats, atrial ectopic rhythm, junctional rhythm, atrial flutter and ventricular premature beats (uniform, multiform, bigeminal and repetitive). Disorders of conduction included abnormal intraatrial or interatrial conduction, Mobitz type I block, nonconducted atrial premature beats, short PR interval, right ventricular conduction delay and rightward axis compatible with left posterior fascicular block. The role of dystrophic involvement of specialized conduction tissues and of the small vessel coronary arteriopathy remains speculative, but mitral valve prolapse, left atrial size and left ventricular size, function and regional wall motion played no discernible part in the genesis of the rhythm and conduction disturbances. Except for end-stage atrial flutter, these disturbances were not clinically deleterious.

Adolescent↗
PubMed1984

Alterations in regional myocardial metabolism, perfusion, and wall motion in Duchenne muscular dystrophy studied by radionuclide imaging.

Studies at necropsy have shown that the cardiomyopathy of Duchenne muscular dystrophy selects the posterobasal and contiguous lateral left ventricular (LV) walls as initial and primary sites of myocardial dystrophy in the absence of small-vessel coronary artery disease in these areas. The present investigation was designed chiefly to determine whether a myocardial metabolic abnormality could be identified in these same areas during a patient's life. Positron emission computed tomography was used to study regional LV metabolism with 18F 2-fluorodeoxyglucose, and metabolism and/or perfusion was studied with 13NH3. In addition, all subjects had the following performed: thallium-201 scans, technetium-99m multiple-gated equilibrium blood pool imaging, electrocardiograms, vectorcardiograms, and M mode and two-dimensional echocardiograms. 18F 2-fluorodeoxyglucose activity was selectively increased in the posterobasal and posterolateral walls of the left ventricle in 11 of 12 patients with technically adequate images, indicating accelerated regional exogenous glucose utilization. 13NH3 activity was selectively decreased in the same areas in 13 of 15 patients, indicating either a regional metabolic alteration in uptake and trapping, a reduction in regional blood flow, or both. These data identify a myocardial metabolic abnormality concentrated in specific segments of the LV free wall in living patients with Duchenne dystrophy.

Adolescent↗
PubMed1984

Systemic venous and pulmonary arterial flow patterns after Fontan's procedure for tricuspid atresia or single ventricle.

Despite increasing use of Fontan or modified Fontan repairs, the comparative hemodynamic efficacy of different types of connections are unresolved. Accordingly, we undertook a prospective study designed to determine postoperative flow patterns after Fontan's operation. Seven subjects had tricuspid atresia and eight had single ventricle. Ages ranged from 5 to 38 years (mean 16.4). Ten subjects had nonvalved right atrial-to-pulmonary arterial connection, and four had nonvalved right atrial-to-right ventricular communication. A valved conduit established continuity between the right atrium and right ventricle in one subject. Doppler flow profiles were recorded in the pulmonary artery and in the superior and inferior venae cavae of each. A reference electrocardiogram was used for timing purposes. In 14 patients, forward flow in the pulmonary artery was biphasic. Flow began at the end of the T wave (early ventricular diastole), peaked at or before the P wave (atrial systole), and returned to baseline by the peak of the R wave. Forward flow recommenced at the peak of the R wave (ventricular systole) and returned to baseline at the end of the T wave. Flow in the superior vena cava varied, and could not be recorded in three subjects. Between the end of the P wave and peak of the R wave (atrial systole) flow was reversed in eight, absent in three, and forward in one patient. Forward flow occurred between the peak of the R wave and the end of the T wave and was either continuous or biphasic. Fourteen patients had adequate studies of inferior vena cava flow; reversed flow during atrial systole occurred in 10 subjects.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1984

Experience with the Fontan procedure.

From 1975 to the present, 45 patients have undergone modifications of the Fontan procedure for complex congenital heart disease. There were 30 males and 15 females ranging in age from 2 to 38 years (mean 13 years). Primary diagnoses were tricuspid atresia in 19, univentricular heart in 24, and pulmonary atresia with intact ventricular septum in two. Right atrial-pulmonary arterial connections were performed in 32 patients, 11 with conduits (seven with valves and four without) and 21 by direct anastomosis with patch augmentation. Right atrial-right ventricular connections were made in 13 patients, six with valved conduits and seven without conduits. Follow-up ranged from 0.1 to 9 years, with a mean of 2.3 years. There were three early deaths (less than 30 days) (7%) and two late deaths (5%) in this series, all in patients with a univentricular heart. The late deaths were both related to venous hypertension. A venous assist device was used in eight patients in the immediate postoperative period and was effective in improving cardiac output and reducing fluid accumulation. Postoperative Doppler flow studies in 15 patients revealed biphasic pulmonary artery flow in all without distinction between the type of connection or the presence of a valve. Cardiac catheterization was performed in 16 patients a mean of 14 months postoperatively (range 1 to 42 months) and revealed a reduced cardiac index at rest. Exercise testing in eight patients demonstrated a marked rise in right atrial pressure with a reduced rise in the cardiac index, even in those without functional limitations. With a mean follow-up of 2.3 years, 78% of patients were in New York Heart Association Class I, 17% in Class II, and 5% in Class III. We conclude that the Fontan procedure is an excellent operation in carefully selected patients with tricuspid atresia and other forms of complex congenital heart disease.

Adolescent↗
PubMed1983

Mitral valve E point to ventricular septal separation in infants and children.

This investigation establishes heretofore unavailable norms that permit clinical application of mitral valve E point to ventricular septal separation (EPSS) as an ejection phase index in infants and children. The study consisted of 105 normal subjects (1 day through 15 years of age, mean 7.4 years) and 67 patients of comparable age. Fifty-seven patients had increased left ventricular (LV) volume with normal function (ventricular septal defect or patent ductus arteriosus) and 10 patients had increased LV volume with depressed function (dilated cardiomyopathy). In normal subjects, EPSS was 2.5 +/- 1.7 mm and "normalized" EPSS, that is, the ratio of EPSS to end-diastolic dimension (EPSS/EDD), was 0.08 +/- 0.06 (mean +/- standard deviation); there was no correlation between either of these indexes and age, body surface area, height or weight. In patients with ventricular septal defect or patent ductus arteriosus, or both, the EPSS and EPSS/EDD were similar to those of normal subjects (3.2 +/- 2.3 mm and 0.09 +/- 0.06 mm, respectively). In patients with dilated cardiomyopathy, these indexes were significantly increased (p greater than 0.05) (EPSS 16.5 +/- 5.1 mm; EPSS/EDD 0.39 +/- 0.09). The data provide normal values for EPSS and EPSS/EDD in infants and children and show that these indexes are independent of age, body surface area, height or weight. Mitral valve EPSS and EPSS/EDD can now be used in pediatric echocardiography as a simple, practical and accurate means of separating normal from abnormal LV function.

Adolescent↗
PubMed1983

Studies of beta-thromboglobulin, platelet factor 4, and fibrinopeptide A in erythrocytosis due to cyanotic congenital heart disease.

Plasma and serum assays of beta-thromboglobulin (BTG) and platelet factor 4 (PF4), and plasma fibrinopeptide A (FPA) were measured in adults with cyanotic congenital heart disease to characterize further the hemostatic disorder. Artifactual elevations of plasma BTG, PF4, and FPA appeared to occur occasionally when a 21 or 22 gauge needle was used to collect blood. The high packed red cell volume was probably the cause. Use of a larger caliber needle (20 gauge) appeared to lessen the problem. Normal plasma FPA levels (20 gauge needle) in 8 of 9 patients suggest that chronic intravascular coagulation is not common in these patients. Serum BTG and PF4, used to estimate total platelet content of these proteins, were normal to slightly increased. That levels were not reduced implies that platelets do not usually circulate in a "spent" state. Therapeutic phlebotomy in 8 patients was associated with small decreases in plasma BTG and PF4 of uncertain clinical significance. Five of 14 patients had elevated plasma BTG with normal to only minimally increased plasma PF4. However, 10 of 10 patients tested were found to have reduced creatinine clearance, and therefore the relative contributions of platelet secretion and reduced BTG catabolism in the kidney to elevated plasma BTG levels are unclear.

Adolescent↗