Antiphospholipid-negative Sneddon's syndrome: A comprehensive overview of a rare entity.

The term Sneddon's syndrome (SS) has been used since 1965 to describe a vasculopathy characterized by a combination of cerebrovascular disease with livedo racemosa. SS may be classified as antiphospholipid+ (aPL+) or antiphospholipid- (aPL-). Little is known about aPL- SS; in this review we describe the epidemiology and pathogenesis of aPL- SS, as well as the clinical and histologic features. We discuss recent findings in terms of neurologic and cardiac involvement. Moreover, differential diagnoses of conditions that may present with both livedo racemosa and stroke are discussed. Finally, we discuss real-life practical issues such as the initial investigations to be performed, long-term follow-up, and therapeutic management of aPL- SS patients.

Amyloidosis and cardiac involvement.

BACKGROUND: Amyloidosis is a rare disease characterized by the extracellular accumulation of a protein polysaccharide complex: amyloid. Cardiac involvement may occur with or without clinical manifestations, and is considered as a major prognostic factor. AIM OF THE STUDY: Firstly, to analyze the clinical, electrocardiographic, radiological and echocardiographic features in a group of patients with extracardiac biopsy-proven amyloid infiltration and evidence of echocardiographic amyloid heart disease. Secondly, to compare the survival of amyloidosis patients, with or without cardiac involvement. PATIENTS AND METHODS: We retrospectively analyzed the main echocardiographic features of 47 patients with biopsy proven amyloidosis. No clinical, electrocardiographic, radiological or scintigraphic criterium were selective for cardiac involvement. Thirty patients with echographic features of amyloid heart disease were identified and compared to 17 patients without echographic features of amyloid heart disease. RESULTS: Amyloid disease with heart involvement was AL in 25/30 (83%) patients and occurred more commonly in middle age men (mean age: 53+/-11 years). The main clinical presentation was congestive heart failure (59%), but 37% of patients had no clinical cardiac features. The electrocardiogram was abnormal in 86% and the cardiac silhouette was enlarged on chest roentgenogram in 27% of patients. The main echocardiographic findings were: diffuse ventricular wall thickening in 21 patients (70%) and isolated septal wall thickening in 9 patients (30%); restrictive pattern of left ventricular (LV) diastolic function in 17 patients (57%); pericardial effusion in 12 patients (40%); impaired LV systolic function in 8 patients (27%); atrial enlargement in 8 patients (27%); characteristic granular sparkling of LV myocardium in 8 patients (27%); mitral and/or aortic valve thickening in 4 patients (13%). Cardiac symptoms developed in 72% of the non symptomatic patients having echocardiographic evidence of cardiac involvement. Twenty-five patients died during the study period and the death was due to cardiac disease in 76%. Median survival time was 36 months from time of amyloidosis diagnosis, and it was 23 months from time of amyloid myocardiopathy diagnosis. It shortened to 6 months when congestive heart failure appeared. CONCLUSION: Patients with a histologically proven amyloidosis should be examined by echocardiography, because cardiac involvement is frequently found in patients with no clinical symptoms, and non symptomatic patients having echocardiographic evidence of cardiac involvement will almost always develop cardiac symptoms. Survival actuarial study confirms the significant adverse influence of cardiac involvement in amyloidosis.

Endomyocardial fibrosis in Behçet's disease.

OBJECTIVE: To report on four patients with Behçet's disease associated with endomyocardial fibrosis involving the right or the left ventricle. METHODS: Charts of more than 350 patients with Behçet's disease were reviewed. Endomyocardial fibrosis was confirmed because of cardiac failure in three patients and incidentally discovered by histological examination of an operative specimen in one patient. Echocardiography displayed bright echogen endocardium. Angiocardiography showed a reduced ventricular size. Electron beam computed tomography demonstrated a lowdense area involving the endocardium. Magnetic resonance imaging showed a mass of intermediate intensity on T1 weighted images. Diagnosis of endomyocardial fibrosis was based on histological study of a biopsy specimen in one patient and of an operative specimen in three. RESULTS: Six other similar cases of endomyocardial fibrosis complicating Behçet's disease were previously reported in the medical literature. Endomyocardial fibrosis predominantly involved the right ventricle. It can be considered a feature of Behçet's disease because: (a) no other cause was discovered; (b) arteritis, valvulopathy, and intraventricular thrombus were closely linked, and (c) all patients with endomyocardial fibrosis had vasculo-Behçet pattern. CONCLUSION: Endomyocardial fibrosis may be the sequelae of vasculitis involving endocardium or myocardium, or both and complicated with intraventricular thrombosis. Behçet's disease should be added to the list of causes of endomyocardial fibrosis.

Complete recovery of right intraventricular thrombus and pulmonary arteritis in Behçet's disease.

We report on a patient who presented with sustained fever, weight loss, haemoptysis and elevated erythrocyte sedimentation rate. The diagnosis of Behçet's disease was based on recurrent oral and genital aphthae, pseudofolliculitis and a history of thrombophlebitis. A right intraventricular thrombus and bilateral pulmonary aneurysms were discovered. Their complete recovery was observed within 6 months after a combination of prednisone, azathioprine, colchicine and aspirin therapy was started.

[The heart and antiphospholipid antibodies. Personal experience and review of the literature]. / Coeur et anticorps antiphospholipides. Expérience personnelle et revue de la littérature.

Since the recognition of the antiphospholipid syndrome, a great number of cardiac manifestations have been reported in association with these antibodies: valvular disease, coronary artery disease, cardiomyopathy and intracardiac thrombosis. However this association raises numerous questions related to the pathogenic role of antiphospholipids, their prognostic significance and their frequency in a non-selected population with a definite cardiac manifestation. In view of the literature and our personal experience, it seems necessary to distinguish two kinds of situations. During systemic lupus and primary antiphospholipid syndrome (which must be systematically looked for in patients with history of thrombo-embolic disease), antiphospholipids antibodies certainly play a role in the occurrence of cardiac manifestations, but the precise place of thrombosis has to be best defined along with immunologic/inflammatory mechanisms. On the other hand, in a non-selected population, antiphospholipids antibodies may just be the consequence of the cardiac lesion and do not seem to have prognostic implications. This distinction, actually hypothetical, should be supported on the basis of distinct specificities of antiphospholipids antibodies and especially their dependence on beta 2-glycoprotein I, which would help to distinguish the harmful antibodies from those which probably just appear as an epiphenomenon.

M mode and Doppler echocardiographic assessment of left ventricular diastolic function in primary antiphospholipid syndrome.

BACKGROUND: High titres of serum antiphospholipid antibodies are a possible pathogenic factor for cardiac lesions in patients with systemic lupus erythematosus. OBJECTIVE: To test the hypothesis of a causal link between high titres of antiphospholipid antibodies in the serum and myocardial involvement in patients without systemic lupus erythematosus. PATIENTS AND DESIGN: 18 patients with primary antiphospholipid syndrome (recurrent fetal loss, arterial and/or venous thrombosis, high titres of antiphospholipid antibodies, and no criteria for systemic lupus erythematosus) were prospectively studied by cross sectional, M mode, and pulsed Doppler echocardiography, and compared with 18 healthy controls. The pulsed Doppler indices of left ventricular diastolic function included isovolumic relaxation time and four mitral outflow indices: peak velocity of early flow, peak velocity of late flow, early to late peak flow velocity ratio, and rate of deceleration of early flow. Four computerised M mode indices were also measured: peak rate of left ventricular enlargement in diastole, peak rate of posterior wall thinning, peak velocity of lengthening of the posterior wall, and velocity of circumferential chamber lengthening. RESULTS: Compared with controls, patients with primary antiphospholipid syndrome had higher values for isovolumic relaxation time and peak velocity of late mitral outflow and lower values for early to late mitral peak outflow velocity ratio, rate of deceleration of early mitral outflow, peak rate of left ventricular enlargement in diastole, peak rate of posterior wall thinning, peak velocity of lengthening of the posterior wall and velocity of circumferential chamber lengthening. CONCLUSION: This abnormal pattern reflects an impairment of myocardial relaxation and filling dynamics of the left ventricle in patients with primary antiphospholipid syndrome who were free of any clinically detectable heart disease. These data suggest that high serum titres of antiphospholipid antibodies may be associated with subclinical myocardial damage.

Left ventricular diastolic function in asymptomatic and symptomatic human immunodeficiency virus carriers: an echocardiographic study.

Acquired immunodeficiency syndrome (AIDS) is a systemic illness affecting multiple organs, including the heart. Left ventricular (LV) diastolic dysfunction has been reported as the first echocardiographically detectable abnormality in several cardiovascular disorders. We tested the hypothesis that Human Immunodeficiency Virus (HIV) carriers have LV diastolic impairment when studied early in the clinical course of the infection. Doppler echocardiographic and computerized time-motion parameters of LV diastolic function were obtained in 51 HIV patients and in 25 age- and sex-matched healthy controls. The HIV population consisted of 28 totally asymptomatic subjects and 23 patients with incipient AIDS. As compared to controls, the HIV group had similar heart rate, blood pressure level, LV dimensions and fractional shortening, but increased isovolumetric relaxation time (P = 0.03), early filling duration (P < 0.001) and decreased early mitral flow peak velocity (E) (P = 0.02) and EF slope (P < 0.001). HIV patients also showed lower values for posterior wall thinning (PWT, P < 0.01) and peak lengthening velocity of the posterior wall (PVL, P < 0.05), and a trend to a decreased peak rate of LV enlargement in diastole (D+, P = 0.05). Doppler-derived parameters of diastolic function were significantly altered in the asymptomatic HIV group vs controls. The LV diastolic indices were similar in symptomatic and asymptomatic HIV patients except for PWT, which was lower in the symptomatic HIV group (P = 0.04). Since mild and focal wall motion abnormalities were detected in 11 HIV carriers (22%), comparison of LV diastolic indexes between HIV patients and controls was also performed in two subgroups; these included asymptomatic (n = 26) and symptomatic (n = 14) patients with normal contractile state. The two subgroups had abnormalities of diastolic function similar to those of the HIV group as a whole, but with somewhat lower levels of statistical significance. Our data strongly suggest that there is myocardial involvement at the early stage of HIV infection; however, its impact on the clinical course of the disease remains to be clarified.

[Changes in the diastolic left ventricular function in primary antiphospholipid antibody syndrome]. / Altération de la fonction ventriculaire gauche diastolique au cours du syndrome primitif des anticorps antiphospholipides.

Previous studies have shown that left ventricular (LV) diastolic function is frequently impaired in patients with systemic lupus erythematosus. We prospectively studied echo-Doppler indices of LV diastolic function in 18 patients with primary antiphospholipid syndrome (PAPS), who where compared to a group of 18 healthy controls. Heretofore undescribed LV relaxation abnormalities were found in the PAPS group: this finding suggests the existence of a causal link.

[Septicemia associated with the presence of a pacemaker with endocavitary electrode]. / Septicémie associée à la présence d'un cardiostimulateur avec sonde endocavitaire.

Septicaemia on endovenous pacemaker electrodes is infrequent and difficult to detect. We report the case of a 64-year old woman with a diagnosis of prolonged fever that dragged on for several months before infection of her pacemaker was considered, then confirmed. Repeated Staphylococcus epidermidis isolates from blood cultures were no longer regarded as contaminations, and transoesophageal echocardiography revealed the presence of a "mass" on her endocavitary electrode, which had not been visualized on several previous échocardiographies. Surgical removal of the electrode was soon required in view of multiple septic emboli despite a bacteriologically effective antibiotic therapy. The outcome is favourable after a 6-month follow-up. The authors review the diagnostic and therapeutic problems created by infections on electrosystolic exciting electrodes.

Late endocarditis-associated obstructive dysfunction of a tricuspid ball-cage-type valve. Doppler echocardiographic findings and therapeutic implications.

Thrombotic obstruction is rare in bacterial endocarditis involving prosthetic heart valves. A 45-year-old man who had three intracardiac, ball-cage-type prosthetic valves, presented with streptococcal septicemia. Major obstruction of the tricuspid Smeloff-Cutter valve and normal function of the two other prostheses were documented by Doppler echocardiography. Emergency replacement of the tricuspid valve alone was decided on the one basis of this echocardiographic diagnosis, and successfully performed. Operative findings confirmed the noninvasive findings.

Doppler echocardiographic measurement of mitral flow volume: validation of a new method in adult patients.

Instantaneous intracardiac flow volumes can be calculated as the product of instantaneous flow velocity and instantaneous orifice area. This was accounted for in a new method of measuring stroke volume and cardiac output in the mitral orifice by pulsed Doppler echocardiography. This method was compared with simultaneous thermodilution in 30 adult patients in sinus rhythm without substantial atrioventricular or pulmonary valve abnormalities. The mitral orifice was assimilated to a conduit with 1) an ellipse-shaped inlet and outlet, 2) the same (and constant) long axis for the inlet and outlet ellipses (that is, the mediolateral anulus diameter measured on apical four chamber views), and 3) a varying outlet short axis (that is, the mitral anteroposterior leaflet separation derived from left parasternal M-mode recordings). This method design avoided the need for a short-axis view of the whole circumference of the mitral outlet orifice, which is difficult to obtain in many adult patients. The mitral flow velocity was recorded from the apex under two-dimensional guidance, within the mitral canal, close to the outlet section. Integration of instantaneous mitral leaflet separation multiplied by instantaneous flow velocity was performed using Simpson's rule. In addition to the proposed "instantaneous orifice area" method (method A), a "mean orifice area" method (method B) was also compared with thermodilution. In this simplified method, mitral flow was the product of mean orifice area and the diastolic mitral velocity integral, both derived from the same recordings as for method A.(ABSTRACT TRUNCATED AT 250 WORDS)

Nitroglycerin-induced decrease of carbon monoxide diffusion capacity in acute myocardial infarction reversed by elevating legs.

Hemodynamic and respiratory variables were measured in 18 supine patients with acute myocardial infarction uncomplicated by left ventricular failure. Measurements were done during a control period and then when pulmonary capillary bed filling was decreased by iv injection of 3 mg nitroglycerin (NTG) and finally when pulmonary capillary bed filling was increased by raising the patients' legs. Heart rate increased significantly (p less than .05) ventricular filling, and mean aortic pressures dropped significantly (p less than .001) after NTG injection. Heart rate and mean aortic pressure returned to control level and ventricular filling pressures increased significantly (p less than .001) after elevating patients' legs. Mean carbon monoxide diffusion capacity decreased significantly (p less than .01) from 9.8 +/- 3.4 to 8.5 +/- 2.9 ml/min X mm Hg after NTG injection and increased significantly (p less than .02) to 9.3 +/- 3.5 ml/min X mm Hg after elevating patients' legs. Pulmonary wedge pressure decreased significantly (p less than .001) from 15 +/- 5 to 8 +/- 4 mm Hg after NTG injection and increased significantly (p less than .001) to 10 +/- 4 mm Hg after elevating patients' legs. We conclude that NTG reduces pulmonary capillary filling and pulmonary diffusion by reducing the available pulmonary gas exchange surface.

Assessment and follow-up of patients with aortic regurgitation by an updated Doppler echocardiographic measurement of the regurgitant fraction in the aortic arch.

The purpose of this study was to determine the value and limitations of an updated Doppler echocardiographic measurement of the aortic regurgitant fraction derived from the comparison of forward and reverse flows in the aortic arch. The method was based on the improvements in sampling and displaying Doppler frequencies and blood velocities provided by pulsed-emission, two-dimensional location, and spectral analysis and on an account for variations of aortic diameter through an M mode record of the aortic arch. Relevant statistical comparisons were performed between simultaneous noninvasive and invasive determinations of the regurgitant fraction in a group of 30 patients with aortic regurgitation (group I) and between simultaneous noninvasive and invasive measurements of variations of the regurgitant fraction induced by atrial pacing or vasodilator administration in 12 patients of this group. The two basal determinations were closely correlated (r = .90). The invasive regurgitant fraction ranged from 0% to 80%. The standard error of the Doppler estimate was 8.8% in group I as a whole and was only 6% in a subgroup of 20 patients with a high systolic aortic flow pattern, defined as both peak velocity above 0.8 m/sec and duration of systolic flow above 0.24 sec. This pattern was present in almost all (19/22) patients in whom the aortic regurgitation was more than moderate by invasive criterion (regurgitant fraction above 40%). The standard error of the Doppler estimate of variations of the regurgitant fraction was only 6.6%. Among 100 additional patients with aortic regurgitation (group II), only 12 had no pandiastolic reverse flow in the arch, and their regurgitation was always mild at aortographic examination.(ABSTRACT TRUNCATED AT 250 WORDS)