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Introduction We aimed to study the various cardiac manifestations of the two core neuroacanthocytosis (NA) syndromes, namely chorea-acanthocytosis (ChAc) and McLeod syndrome (MLS). So far, cardiac involvement has been described as specific feature only for MLS. Methods We studied six patients with ChAc (mean age 44.5 years, five men, one woman) and six patients with MLS (mean age 57.1 years, all men). Cardiac evaluation included echocardiography and/or cardiac magnetic resonance imaging (cardiac MRI), 24-h ECG-recording and examination of cardiac biomarkers. Results Cardiac involvement of ChAc was found in four of six patients. Two patients showed mildly reduced left ventricular ejection fraction (LVEF), two other patients mild to moderate left ventricular (LV) dilatation. Neither an increase in ventricular ectopic beats nor ventricular tachycardia were evident in ChAc. Four of five MLS patients showed left ventricle dilatation and reduced left ventricular ejection fraction (LVEF). Two of these, in addition, had critical ventricular tachycardia. High sensitive troponin T was elevated in all patients, for whom data were available (n = 10). In contrast, elevation of high sensitive troponin I was found in one of six ChAc and one of two MLS patients. Conclusion For the first time, we reveal cardiac involvement in a cohort of six ChAc patients, while the risk to develop heart failure seems lower than in MLS. Our study confirms the malignant nature of MLS in terms of ventricular arrhythmias and progression to advanced heart failure. Herein, we define disease-specific recommendations for cardiac assessment in both conditions.

(1) Background: Wilson&rsquo, s disease (WD) is an inherited autosomal recessive disorder with the excessive deposition of copper into different organs, including the heart. Previous studies showed structural cardiac changes even in patients with no signs of heart failure. The aim of this study was to perform cardiac magnetic resonance-based strain analysis in WD patients, as it is a powerful independent predictor of mortality. (2) Methods: We conducted a prospective cardiac magnetic resonance study that included 61 patients and 61 age and sex-matched controls, and performed strain analysis of the left and right ventricle. (3) Results: Left ventricular global longitudinal strain (GLS) as a prognostic marker of increased mortality was not altered (control &minus, 22.8 (4.8) % vs. WD patients &minus, 21.8 (5.1) %, p = 0.124). However, 4 of the 61 patients had a markedly reduced GLS. Global circumferential strain did not significantly differ between the groups either (p = 0.534). WD patients had significantly reduced global radial strain (p = 0.002). Right ventricular GLS was also significantly reduced in WD patients (p = 0.01). (4) Conclusions: Strain analysis revealed functional impairment of the left and right ventricle in a small number of patients as a potential early sign of cardiac manifestation in asymptomatic WD patients.

Aim of the study Frail patients with high grade aortic valve stenosis (AS) undergoing Transcatheter Aortic Valve Implantation (TAVI) have an increased mortality. A connection between frailty and inflammation has been suggested. Monocyte subpopulations are associated with both cardiovascular diseases and chronic inflammatory diseases. This study investigates the association of frailty with monocyte subpopulations and systemic inflammatory parameters in elderly patients undergoing TAVI. Methods A total of 120 patients with symptomatic AS was examined. Before TAVI implantation, frailty was assessed by a bedside evaluation (eyeball test). In all patients a flow cytometry analysis has been performed. Monocyte subpopulations were defined as follows: classical (CD14++CD16−), intermediate (CD14++CD16+) and non-classical (CD14+CD16++). Expression of CD11b was measured as a marker for monocyte activation. Pro-inflammatory cytokines such as interleukin IL-8, as well as CRP were measured with Cytometric Bead Array or standard laboratory methods. Results 28 out of 120 patients were frail. These patients showed both, signs of elevated chronic systemic inflammation reflected by elevated CRP (3.7 (1.4–5.4) vs. 5.9 (3.7–29.1), p = 0.001) and an elevated level of intermediate monocytes (37 (24–54) vs. 53 (47–63), p = 0.001). At 6 months after TAVI, 19 of 120 patients died, primarily without relevant dysfunction of the implanted aortic valve. Mortality was significantly higher in the frail as compared with non-frail patients (9 of 28 frail patients vs. 10 of 92 non frail patients, p Conclusion Chronic systemic inflammation and increased levels of intermediate monocytes are associated with frailty in old patients with severe aortic valve stenosis. Both the syndrome of frailty and elevated intermediate monocytes showed an association with early mortality after TAVI.

BACKGROUND Left ventricular (LV) torsion is a key parameter in cardiac function and predicts functional capacity (FC) more appropriately than LV ejection fraction (EF). We sought to investigate LV torsion as a marker of hospitalization for worsening heart failure (HF) in non-ischemic dilated cardiomyopathy (DCM) patients. Methods and Results: The 91 outpatients with newly diagnosed DCM (53±13 years, 20% female) were evaluated with 3D speckle-tracking imaging and followed up for 12 months; 43 healthy sex- and age-matched volunteers served as controls. LV torsion, LVEF, right ventricular function, LV global longitudinal (GLS) and circumferential (GCS) strain values, peak oxygen uptake (peak VO2) from FC and B-type natriuretic peptide levels were measured at baseline. Peak VO2correlated successively with LV torsion, diastolic filling and GCS (r=0.70, -0.52 and -0.41, P

Chromogranin B (CGB) regulates B-type natriuretic peptide (BNP) production. Circulating CGB levels are elevated in heart failure (HF) animal models and HF patients, but also increase in healthy individuals in response to physical activity. Therefore, CGB seems to integrate information from myocardial stress and systemic neuro-endocrine activation. Substantial gaps remain in our understanding of CGB regulation in HF.We conducted a retrospective registry study including 372 patients. CGB and N-terminal pro-BNP (NT-proBNP) plasma levels were assessed in acute HF and chronic valvular HF patients and controls. CGB levels were significantly increased in acute HF and chronic valvular HF, but significantly higher in the latter. Patients in chronic valvular HF with severe mitral regurgitation (cHF-MR) showed significantly higher CGB levels than patients in chronic valvular HF with severe aortic stenosis. CGB levels progressively increased with worsening NYHA functional status and were moderately correlated to NT-proBNP, but independent of left ventricular (LV) ejection fraction (LVEF), LV mass, age and body weight. Finally, cHF-MR patients showed significant reductions of CGB levels after interventional mitral valve repair.CGB is a promising emerging biomarker in HF patients with unique potential to integrate information from myocardial stress and neuro-endocrine activation.

Atrial fibrillation (AF) is well known for being a major risk factor of thromboembolic stroke. We could recently demonstrate an association of monocyte-platelet aggregates (MPAs) with the degree of thrombogenicity in patients with AF. This study investigated platelet activation markers, as potential biomarkers for the presence of left atrial (LA) thrombus in patients with AF. One hundred and eight patients with symptomatic AF underwent transesophageal echocardiography (TEE) before scheduled cardioversion or pulmonary vein isolation. In order to determine the content of MPAs by flow-cytometric quantification analyses, blood was drawn on the day of TEE. The soluble CD40 Ligand (sCD40L) and soluble P-selectin (sP-selectin) were obtained by Cytometric Bead Arrays (CBA). D-dimer levels were detected by quantitative immunological determination of fibrin degradation products. Clinical, laboratory, and echocardiographic standard parameters were obtained from all patients, including the determination of the flow in the left atrial appendage (LAA). Patients with detected LA thrombus (n = 28) compared with patients without thrombus (n = 80) showed an increased number of common risk factors, such as age, diabetes, heart failure, and coronary artery disease (CAD). The presence of LA thrombus was associated with significantly increased levels of MPAs (147 ± 12 vs. 304 ± 29 per µl; p0.00), sCD40L (106.3 ± 31.0 vs. 33.5 ± 2.1 pg/ml, p = 0.027), and D-dimer (0.13 ± 0.02 vs. 0.69 ± 0.21 mg FEU/l, p = 0.015). In contrast, sP-selectin showed no association with LA thrombus. A multivariate regression analysis showed that MPAs, sCD40L as well as D-dimers were independent indicators for the existence of LA thrombus. MPAs above 170 cells/µl indicated LA thrombus with a high sensitivity of 93% and a specificity of 73% (OR 62, 95% CI. 6.9-557.2, p0.001) in patients with AF, whereas the D-dimer lost their quality as independent indicator by using the conventional cut-off of 0.5 mg/l within the regression analysis. MPAs, as well as the D-dimer, correlated significantly negatively with the flow in the LAA measured during TEE. The content of MPAs, sCD40L, and D-dimer, but not sP-selectin showed an increased dependence on LA thrombus in patients with AF. In our study group, MPAs showed the best diagnostic test accuracy of the compared platelet markers. The different results of the examined platelet activation markers could be an indication of diverse mechanisms of LA thrombus in AF. Further studies should evaluate whether determination of MPAs in clinical routine may suffice to indicate the presence of LA thrombus in patients with AF.

Background Wilson's disease (WD) is an inherited autosomal recessive disorder resulting from abnormal copper metabolism. Relatively little is known about the effects of copper accumulation on the heart. Objective We aimed to determine if patients with Wilson's disease show signs of cardiac involvement and structural heart disease. Methods In this prospective trial, we studied 61 patients with Wilson's disease and compared them to 61 age- and gender-matched healthy controls. Results While left ventricular function assessed by global longitudinal and global radial strain did not differ significantly between the groups, Wilson's disease patients had significantly reduced global radial strain (table 1). Wilson's disease patients demonstrated significantly more late gadolinium enhancement than the control patients (4.9±1.4 vs. 1.1±0.2% p The severity of Wilson's disease, based on the Unified Wilson's Disease Rating Scale, was significantly correlated with the extent of late gadolinium enhancement (r=0.53, P=0.001), cardiac troponin (r=0.56, P=0.001), the number of premature ventricular contraction (r=0.66, P=0.001). Table 1. Myocardial strain and CMR characteristics of patients and controls Parameter Patients (n=61) Controls (n=61) p value Left ventricular parameters GLS, % −22.8 (4.8) −21.8 (5.1) 0.124 GRS, % 43.2 (13.2) 51.6 (13.8) 0.002 GCS, % −29.2 (5.2) −28.6 (4.7) 0.534 Late gadolinium enhancement LGE, %* 4.9 (1.4) 1.1 (0.2) 0.003 LGE at RVIP, n (%) 58 (95) 3 (5) Conclusion Our data demonstrate that cardiac involvement in Wilson's disease is possible and those patients who are severely affected by the disease carry a higher risk of developing structural heart disease.

Chromogranin B and inositol 1,4,5-trisphosphate-associated calcium signaling leading to increased natriuretic peptide production has been described in cardiac hypertrophy. Here, we performed left anterior descending coronary artery ligation in rats as a model for systolic heart failure and examined protein and gene expression clusters in the infarcted and noninfarcted myocardium and moreover under treatment with metoprolol. We found that atrial natriuretic peptide gene transcription was significantly more elevated in the infarcted compared with the noninfarcted myocardium. Chromogranin B, which facilitates calcium release from internal stores through the inositol 1,4,5-trisphosphate receptor, was upregulated in both areas. Interestingly, angiotensin II receptor type 1 gene transcription was significantly upregulated in the infarcted and unchanged in the noninfarcted myocardium. Nuclear factor ĸappa B as a calcium-dependent transcription factor showed increased activity in the infarction zone. The β-adrenergic axis does not seem to be involved, as metoprolol treatment did not have a significant impact on any of these results. We conclude that region-specific upregulation of angiotensin II receptor type 1 is a major factor for increased atrial natriuretic peptide production in the infarcted anterior wall. This effect is most likely achieved through inositol 1,4,5-trisphosphate-mediated cytosolic calcium increase and subsequent nuclear factor ĸappa B activation, which is a known transcription factor for natriuretic peptides.

Aims It is hypothesized that inflammation could promote structural and electrical remodelling processes in atrial fibrillation (AF). Atrial infiltration of monocytes and granulocytes has been shown to be dependent on CD11b expression. The aim of this study was to investigate whether treatment of AF by pulmonary vein isolation (PVI) may lead to reduced inflammation, as indicated by a decrease of CD11b expression on monocytes and granulocytes. Methods and results Flow-cytometric quantification analysis and determination of systemic inflammatory markers of peripheral blood were performed in 75 patients undergoing PVI 1 day before and 6 months after PVI. The extent of activation of monocytes and granulocytes was measured by quantifying the cell adhesion molecule CD11b. The mean expression of CD11b on monocytes (20.9 ± 2.5 vs. 10.2 ± 1.4; P

Pacient s cevnim typem Ehlersova-Danlosova syndromu a s implantovanou mechanickou chlopni byl hospitalizovan pro dyspnoe a bolest na hrudi. Po vylouceni infarktu myokardu nasledovalo vysetřeni CT angiografii, ktere prokazalo spontanni rupturu jedne z mezižebernich tepen s nasledným vznikem hemothoraxu a rozvojem kompresivni atelektazy. Celý připad komplikovala soucasna antikoagulacni lecba warfarinem po implantaci mechanicke chlopně. Po neuspěsne konzervativni lecbě byl připad řesen chirurgicky. Jak ukazuje nase kasuistika, může implantace mechanicke chlopně s nezbytnou odpovidajici a dlouhodobou antikoagulaci warfarinem u těchto pacientů představovat nežadouci přidatne riziko.

Purpose To assess the type and frequency of vascular changes in the superior mesenteric artery (SMA) associated with the hypovolemic shock complex (HSC). Methods Twenty-six patients (14 males, 70.6 ± 11.2 years) meeting the criteria for hypovolemic shock complex in computed tomography were examined for the presence of angiographic signs of non-occlusive mesenteric ischemia (NOMI) in the SMA: the string of sausages sign and spasms of the arcades of mesenteric arteries on coronal maximum intensity projection images (MIP). Interrater agreement was assessed using weighted kappa (κ). Results Vascular changes of the SMA were visible in almost all of the patients with HSC with a frequency of 88.5 %–96.2 %. Intraclass correlation coefficients indicated a substantial to almost perfect interrater agreement. Conclusions Using computed tomography, it is possible to reliably and reproducibly detect vascular changes in SMA known from angiography in the context of hypoperfusion. The pathological vascular changes also occur more frequently than other classic signs of a CT hypoperfusion complex. Since the qualitative assessment of the SMA requires only a small amount of time, it is suitable as a further criterion for the presence of the CT hypoperfusion complex.

Patient: Male, 50 Final Diagnosis: Exudative enteropathy Symptoms: Abdominal pain • diarrhea • fever • hyponatremia • lymphadenopathy • weight loss Medication: — Clinical Procedure: — Specialty: — Objective: Unusual clinical course Background: Protein-losing enteropathy is a rare cause of hypoproteinemia. Erosive and non-erosive gastrointestinal diseases as well as vascular disorders that result in increased central venous pressure or mesenteric lymphatic obstruction may result in protein loss via the gastrointestinal tract. Case Report: We present the case of a 50-year-old man with protein-losing enteropathy, who had profuse diarrhea, abdominal pain, lymphadenopathy, fever, and a weight loss of 10 kg in the preceding 2 months. Extensive work-up revealed infection with Giardia lamblia. We review clinical signs and symptoms, laboratory findings, and imaging studies, and discuss potential pitfalls in establishing the diagnosis. Conclusions: To the best of our knowledge, this represents one of the few published cases of intestinal giardiasis as a cause of protein-losing enteropathy in an immunocompetent adult. The diagnosis of lambliasis should be based on a combination of stool cultures and serum serology, and in cases of high clinical suspicion, an endoscopy and biopsy of the upper GI tract is recommended.

Wilson’s disease (WD) is an inherited autosomal recessive disorder which leads to reduced copper excretion and excessive deposition of the copper into different organs. However, relatively little is known about the effects of copper accumulation on the heart. Cardiac involvement in WD has

Background: MitraClip therapy has recently gained clinical attention after EU and US approval. The Dresdner MitraClip registry reflects real world clinical demographic findings and midterm outcomes in an older patient cohort at high or prohibitive surgical risk with mixed mitral regurgitation (MR) etiology. Methods and results: A retrospective data analysis was conducted for consecutive patients with severe MR treated with the MitraClip system in a single institution between 08/2012 and 08/2015. 160 patients (46% ischemic cardiomyopathy (ICM), 22% dilative cardiomyopathy (DCM) and 32% degenerative mitral regurgitation (DMR) participated in this study. Patients in the ICM group had a significantly higher EURO-II-Score (22 (ICM) vs. 15 (DCM) vs 13 (DMR), p

Atrial fibrillation (AF) is known to cause platelet activation. AF and its degree of thrombogenesis could be associated with monocyte-platelet aggregates (MPAs). We investigated on whether the content of MPAs or other platelet activation markers is associated with the recurrence of AF after pulmonary vein isolation (PVI). A total of 73 patients with symptomatic AF underwent PVI. After 6 months, all patients were evaluated for episodes of AF recurrence. At the same time, flow-cytometric quantification analyses were performed to determine the content of MPAs. Further platelet activation parameters were detected by using either cytometric bead arrays or quantitative immunological determination. Patients with recurrent AF (n = 20) compared to individuals without AF relapse (n = 53) were associated with an increased content of MPAs (43 ± 3% vs. 33 ± 2%, p = 0.004), as well as an increased CD41 expression on monocytes (191 ± 20 vs. 113 ± 6, p = 0.001). The level of the soluble platelet activation markers such as D-dimer, sCD40L, and sP-selectin did not differ between these groups. The content of MPAs correlated weakly with the level of sCD40L (r = 0.26, p = 0.03), but not with sP-selectin and D-dimer, whereas sP-selectin and sCD40L correlated with each other (r = 0.38, p = 0.001). Only the cellular marker of platelet activation, the content of MPAs, was increased in patients with recurrent AF after PVI. In contrast, soluble markers remained unaltered. These data indicate a distinct mechanism and level of platelet activation in AF. The clinical relevance of MPAs in identifying AF recurrence or in guiding the therapy with anticoagulants remains to be elucidated.

In this interesting report, Dardas et al1 describe another case of a rare yet potentially life-threatening complication of interventional atrial septal defect closure with a 20-mm Amplatzer septal occluder device. Transesophageal echocardiography revealed a 15-mm atrial septal defect complicated by a deficient aortic rim and a bicuspid aortic valve, along with aortic root dilation (42 mm). At the routine 6-month follow-up, transesophageal echocardiography showed device perforation into the aortic root. We previously described a series of 2 patients who underwent primarily uncomplicated interventional patent foramen ovale closure by a Cardia Star …

A 79-year-old woman was admitted to our center for atypical angina pectoris with chest pains worse at coughing. Her medical history revealed a dorsal stabilization of 3 lumbar vertebral bodies, 5 months ago. Laboratories showed moderate elevation of high-sensitive troponin T. Therefore, a coronary angiography was performed and ruled out significant coronary artery stenoses. However, fluoroscopy showed a toothpick-shaped structure of ≈9 cm reaching from the superior vena cava down to the diaphragmal base of the right ventricle (RV; Figure [A] and [B]). Chest x-ray and 3-dimensional echocardiography confirmed the presence of a toothpick-like structure within the RV, along with a small pericardial effusion (Figure [C–E]; see Movie IA and IB in the Data Supplement). In-depth investigation of the patient’s medical record revealed usage of bone cement (polymethylmethacrylate [PMMA]) during the orthopedic procedure 5 months ago. A computed tomographic scan was performed, and 3-dimensional reconstruction showed multiple pulmonary emboli of identical Hounsfield units in addition to the structure in the RV (Figure [F] and [G]). Considering the patient’s medical history, we hypothesized the visualized structures being PMMA fragments accidentally penetrating into the paravertebral venous system causing consecutive cardiopulmonary embolism after the orthopedic procedure. For retrieval, open heart surgery was declined by the patient. …