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Background: The UPDRS is the most widely used rating scale for Parkinson's disease (PD). However, subtle features of early disease stages may be missed., Methods: We studied 25 early PD patients using a newly compiled battery of motor tests focusing on subtle motor features. Focal dystonia patients (n = 31) and healthy individuals (n = 26) served as controls. Specifically, asymmetric shoulder null position and delayed shoulder shrugs, reduced arm swing, subtle tremor, and timed finger taps were assessed. Spiral drawings and writing were also studied., Results: With a total mean of 9.8 ± 4.9 (possible range: 0-94), PD patients scored significantly higher than dystonia patients (2.9 ± 2.0) and healthy controls (1.9 ± 2.0) (P < 0.001). Reduced arm swing and tremor of individual fingers best distinguished PD from the other groups., Conclusions: The battery was sensitive to detect subtle motor features missed by the UPDRS. For future revisions of an international motor score, further assessment of these items may be worthwhile., (Copyright © 2012 Movement Disorder Society.)

Olfaction is typically impaired in idiopathic Parkinson's disease (IPD), but its role is uncertain in monogenic PD. Diminished color discrimination has been suggested as another early sign of dopaminergic dysfunction but not been systematically studied. Furthermore, it is unknown whether both deficits are linked. We examined 100 patients with IPD, 27 manifesting mutation carriers (MC), 20 nonmanifesting mutation carriers (NMC), and 110 controls. Participants underwent a standardized neurological examination, the University of Pennsylvania Smell Identification Test (UPSIT), the Farnsworth-Munsell (FM) color discrimination test, and mutation testing in known PD genes. The monogenic group consisted of 15 Parkin (6MC/9NMC), 17 PINK1 (10MC/7NMC), 8 LRRK2 (4MC/4NMC), 3 SNCA (MC), and 4 ATP13A2 (MC) carriers. Olfaction was most impaired in IPD (UPSIT percentiles 10.1 ± 13.5) compared with all other groups (MC 13.8 ± 11.9, NMC 19.6 ± 13.0, controls 33.8 ± 22.4). Within MC, carriers of two mutations in Parkin and PINK1 showed higher UPSIT percentiles than LRRK2 and SNCA carriers. Color discrimination was reduced in IPD (FM total error score 134.8 ± 92.7). In MC (122.4 ± 142.4), the reduction was most pronounced in LRRK2, NMC (80.0 ± 38.8) were comparable with controls (97.2 ± 61.1). UPSIT and FM scores were correlated in the control (r = -0.305; P = 0.002) and the IPD group (r = -0.303; P = 0.006) but not among mutation carriers. First, we confirmed olfaction and color discrimination to be impaired in IPD and suggest olfaction to be a premotor sign. Second, olfaction differed between carriers with one and two mutations in Parkin/PINK1-associated PD. Third, olfaction and color discrimination impairment do not necessarily evolve in parallel., (© 2010 Movement Disorder Society.)

Background: The severity of aortic regurgitation (AR) can be determined by invasive or echocardiographic methods. We systematically compared quantitative invasive and echocardiographic data with semiquantitative invasive grades in a prospective series of patients., Methods: Using Doppler-echocardiography we determined the cardiac output over the aortic, pulmonary and mitral valve in 27 patients (20 with, 7 without AR). Aortic regurgitant volume was calculated as the difference between the cardiac output over aortic and pulmonary valve/ mitral valve. During angiography the severity of AR was assessed semiquantitatively by aortography and the regurgitant volume was calculated invasively as the difference between the left- and right ventricular cardiac output., Results: The echocardiographically and invasively determined regurgitant blood volume correlated closely (R approximately 0.8). The regurgitant volume increased with higher angiographic grade but there was significant overlap between adjoining qualitative grades., Conclusion: In patients with AR, quantitative echocardiographic and angiographic measurements of the regurgitant volume correlate closely.

We report the case of a 28-year old asthmatic female patient, who developed an acute heart failure beginning with diarrhea, fever, and dyspnea 5 weeks after delivery. After improvement of all vital functions and dismissal from hospital care unit a marked blood hypereosinophilia, left ventricular congestive heart failure, pericardium effusion and fever up to 40 degrees C followed. Endomycardial, bone marrow and skeletal muscle biopsies and the pericardial fluid showed a marked eosinophilic infiltration or polymyositis, respectively, which could be treated successfully with steroids and azathioprin. During steroid medication cytomegalovirus-associated myocarditis developed and was diagnosed by in situ hybridization. CMV hyperimmunoglobulin treatment (Cytotect, Biotest) was started (2 ml/kg bw on day 1 and 3, and 1 ml/kg on days 5, 7 and 9), which led to the eradication of the residual infiltrate and CMV-DNA in the myocardium. After discontinuation of all medication, eosinophilia and asthma recurred so that immunosuppressive treatment was continued.

We report the case of a 59-year old patient with the rare combination of silicosis and rheumatoid arthritis, which is called Caplan's syndrome. The patient presented with right heart failure caused by a pericardial tumor compressing the right and the left ventricle. By means of several imaging techniques it was possible to elucidate the topographic relations of the tumor. Definite signs of malignant growth were not found. Despite his elevated perioperative risk we decided to operate on the patient. During the operation macroscopic and histologic evidence revealed that the tumor was not a neoplastic process but consisted of an organized hemopericardium. This demonstrates that pericarditis in rheumatoid arthritis can be hemorrhagic and can mimick a malignant pericardial tumor. The decision to operate was first supported by the findings of the applied imaging techniques, the normal endomyocardial biopsy, and the clinical course and were later confirmed in situ.

We describe a 63-year old female patient presenting with increasing dyspnea on exertion. The chest X-ray was suggestive but not compelling for Ebstein's anomaly. Although Ebstein's anomaly is most often discovered first in childhood, rare cases, such as ours, are described in late adulthood, however. Obesity may be one reason why it was not possible in our patient to detect the characteristic features in transthoracic echocardiography. The diagnosis of Ebstein's anomaly could be established only by transesophageal echocardiography: There the right atrium was grossly enlarged due to the distal insertion of the septal tricuspid valve leaflet. Colour flow echocardiography clearly demonstrated severe tricuspid valve incompetence. No additional congenital or acquired cardiac disorder could be detected. Cardiac catheterization confirmed the echocardiographical findings, whereas magnetic resonance tomography did not show the abnormal insertion of the tricuspid valve leaflet. If Ebstein's anomaly is suspected and cannot be ascertained by transthoracic echocardiography, transesophageal echocardiography can be employed to definitely diagnose this fairly rare form of congenital heart disease in an adult population.

The clinical and immunological 8-year follow-up of a 45-year old female with hypereosinophilic syndrome and cardiac involvement of Löffler's fibroplastic endocarditis which was complicated by infective endocarditis during immunosuppressive treatment is presented. All 3 stages of the disease were documented by clinical and histologic data: stage 1 by biopsy proven eosinophilic myocarditis and arteritis, stage 2 with Berlin blue positive parietal thrombosis, and the fibrotic features of stage 3 both by fibrosis in the latest biopsies and by echocardiography. It was remarkable, however, that this classic clinical case of Löffler's endocarditis lacked a few serological markers postulated to be found regularly, e.g., a positive staining for the cationic protein and major ribonucleases. Instead, the patient demonstrated all the immunological features of autoreactive myocarditis with cytolytic, complement fixing antimyolemmal antibodies. After an initial loading dose of 120 mg prednisolone per day for 6 weeks (11/1986), the steroid dosage was reduced to 40 mg (12/1986) and diminished to 15 mg/day in 1988 to 1989. Finally, the patient was on 4 mg prednisolone per day for almost 4 years. In 1987, azathioprine was added in the dose of 150 mg/day for 6 weeks. In 3/1994 the patient developed infective endocarditis with streptococcus sanguis and presented with dyspnoea. By echocardiography a large floating structure was diagnosed on the anterior mitral leaflet and the left atrium was enlarged by severe mitral regurgitation. Infective endocarditis was successfully treated with antibiotics, but mitral regurgitation made valve replacement obligatory.

Primary tumors of the heart, in contrast to secondary metastatic tumors show a very rare occurrence. About 25% of all primary cardiac tumors are malignant with angiosarcomas being the most frequent type of tumor. The clinical presentation include pericardial tamponade by hemorrhagic pericardial effusion, right heart failure, lung embolism and thoracal pain. Diagnostic procedures include echocardiography, magnetic resonance imaging, CT scan, angiography, pericardioscopy and finally surgical exploration. We report on a 27-year old pregnant woman (23rd week) with a malignant primary angiosarcoma of the right atrium. The patient was admitted to the hospital with progressive shortening of breath due to pericardial tamponade from pericardial effusion. A tumor of the right atrium was detected by echocardiography. Diagnostic procedures had to consider the pregnancy of the patient. Transesophageal echocardiography, magnetic resonance imaging and finally angiography of the right heart with tumor biopsy were performed. Histological examination did not show any signs of malignancy. After corticosteroids pericardial effusion disappeared. Surgical exploration of the tumor was not performed because of the pregnancy. Two weeks later the patient underwent emergency surgery because of progressive heart failure due to obstruction of the tricuspidal valve by the tumor. Thereby intrauterine death of the fetus occurred. The tumor was removed and the right atrium was reconstructed using a Dacron patch. Adjuvant chemotherapy was performed. Eight months later the tumor recurred and heart transplantation was performed. two months later pulmonary metastases were found. the patient died 20 months after onset of symptoms. This is a rare case of the very unusual coincidence of pregnancy and a primary malignant heart tumor.

Echocardiography has contributed considerably to the evolution in the management of patients with infective endocarditis. There is a clear hierarchy with respect to sensitivity of the different methods is superior when compared to 2-D and M-mode echocardiography in identifying both vegetations and perivalvular complications e.g. abscess formation, aneurysms, mural endocardial lesions. For patients with suspected endocarditis, in whom vegetations can not be clearly identified or in whom abscess formation is suspected with transthoracic echocardiography (TTE), transesophageal echocardiography (TEE) with mono- or multiplane scans has become the standard diagnostic procedure. For the examination of prosthetic valves it is the method of choice. It has even been suggested that it is employed as routine measure in all patients with suspected infective endocarditis. TEE is a safe semi-invasive technique with an extremely low complication rate and high sensitivity. Its specificity depends largely on the patient group which is examined. In patients with indicative clinical symptoms the specificity and the predictive value of vegetations are high. When used as screening method to assess echodense formations at cardiac valves particularly in the elderly, in whom degenerative changes prevail, its specificity and positive predictive value of vegetation-like structures are much lower. The negative predictive value of a negative transesophageal echocardiogram remains high, however. Valve abscesses are detected rarely by transthoracic echocardiography. It is the domain of TEE to assess them particularly in the aortic and mitral valve area. For them the specificity and positive predictive value of TEE in the diagnosis of infective endocarditis is high again. Of further importance was the observation that patients with vegetations of > 10 mm were more likely to suffer embolic complications. It should be noted, however, that infective endocarditis remains a clinical diagnosis: neither is the demonstration of a vegetation already the equivalent of endocarditis, nor does missing vegetations completely rule out the possibility of it. But without doubt, the presence of vegetations, of abscess formation or a concomitant pericardial effusion add valuable information to clinical diagnosis of infective endocarditis, which still needs a "high index of suspicion".

Pericardioscopy is a new diagnostic tool to visualize macroscopically alterations of both the epicardium and pericardium. For the first time the macropathology of the epicarditis and pericarditis can be observed in vivo by the cardiologist in viral, bacterial, uremic and autoimmune cardiac processes. It enables us also to get an insight into neoplastic and metastatic processes affecting the heart and the pericardium. The prerequisite is the documentation of a larger pericardial (greater than 150 ml by the cubic model) effusion with an echocardiographically documented effusion of type C (Figure 1b), which must have at least 5 mm separation of the epicardial and pericardial layer in diastole at the anterior side of the heart when echocardiographic imaging is performed from the subxyphoidal or third intercostal space (Figure 1a). The first experience in 30 patients is reported. After puncture of the pericardial effusion a 9F sheath was introduced by use of a guide wire under echocardiographic and/or x-ray control (Figure 3). The fluid was removed by aspiration and 100 to 150 ml of body warm saline were infused in the pericardial sack. A flexible 8F fiber glass instrument (Vantec, Baxter or Storz) and a rigid 110 degrees 8F endoscope (Storz) were used for visualization of peri- and epicardium and for video documentation (Figure 2). After endoscopic inspection of the macropathology fibrinous strands (Figure 4) or increased vascular injection (Figure 5) can be observed in viral, autoimmune or idiopathic pericarditis or perimyocarditis. In the latter three forms of pericardial effusion only inflammatory cells (Figure 6) can be observed when the pericardial fluid is analyzed.(ABSTRACT TRUNCATED AT 250 WORDS)

Antisarcolemmal (ASAs) and antimyolemmal antibodies (AMLAs) are serological hallmarks of inflammatory heart muscle disease. They occur in a similar incidence in postcardiac injury syndromes, sarcoid heart disease or in dilated and hypertrophic cardiomyopathy. Rarely but still notably they are found with increasing age or in coronary artery disease. We therefore examined whether they are truly pathogenetic or whether they also possess properties of 'natural antibodies'. AMLAs and ASAs, like natural antibodies, have specificity for preserved structures on the membrane; they possess cross-reactivity and increase with age. In contrast to natural antibodies, however, they occur frequently after viral stimulation or other forms of trauma, are more often of the IgG and IgA than of the IgM isotype and fix complement in the acute stage of the disease. They also possess cytolytic and cytotoxic properties when incubated in vitro with isolated heart muscle cells. Antigenic mimicry has been demonstrated to be operative, since they are cross-reactive to viral proteins.

The clinical and immunological follow-up of a 38-year-old female patient with hypereosinophilic syndrome and classical cardiac involvement, but without demonstrable degranulation of eosinophils and lacking binding of a specific antibody for activated eosinophils, is presented. Instead, the patient demonstrated all the immunological features of autoreactive myocarditis: cytolytic, complement-fixing antimyolemmal antibodies and increased concentrations of circulating immune complexes were present over 3 years.