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Background: Use of the current echocardiography-based indications for aortic regurgitation (AR) surgery might result in late valve replacement at the stage of irreversible myocardial damage. Therefore, we aimed to identify simple models combining multiple echocardiography or magnetic resonance imaging (MRI)–derived indices and natriuretic peptides (BNP [brain natriuretic peptide] or NT-proBNP [N-terminnal pro-B type natriuretic peptide]) to predict early disease decompensation in asymptomatic severe AR. Methods: This prospective and multicenter study included asymptomatic patients with severe AR, preserved left ventricular ejection fraction (>50%), and sinus rhythm. The echocardiography and MRI images were analyzed centrally in the CoreLab. The study end point was the onset of indication for aortic valve surgery as per current guidelines. Results: The derivative cohort consisted of 127 asymptomatic patients (age 45±14 years, 84% males) with 41 (32%) end points during a median follow-up of 1375 (interquartile range, 1041–1783) days. In multivariable Cox regression analysis, age, BNP, 3-dimensional vena contracta area, MRI left ventricular end-diastolic volume index, regurgitant volume, and a fraction were identified as independent predictors of end point (all P Conclusions: In asymptomatic severe AR, multimodality and multiparametric model combining 2 imaging indices with natriuretic peptides, showed high accuracy to identify early disease decompensation. Further prospective studies are warranted to explore the clinical benefit of implementing these models to guide patient management. Registration: URL: https://www.clinicaltrials.gov ; Unique identifier: NCT02910349

Reliable quantification of aortic regurgitation (AR) severity is essential for clinical management. We aimed to compare quantitative and indirect echo-Doppler indices to quantitative cardiac magnetic resonance (CMR) parameters in asymptomatic chronic severe AR. Methods and Results: We evaluated 104 consecutive patients using echocardiography and CMR. A comprehensive 2D, 3D, and Doppler echocardiography was performed. The CMR was used to quantify regurgitation fraction (RF) and volume (RV) using the phase-contrast velocity mapping technique. Concordant grading of AR severity with both techniques was observed in 77 (74%) patients. Correlation between RV and RF as assessed by echocardiography and CMR was relatively good (rs = 0.50 for RV, rs = 0.40 for RF, p < 0.0001). The best correlation between indirect echo-Doppler and CMR parameters was found for diastolic flow reversal (DFR) velocity in descending aorta (rs = 0.62 for RV, rs = 0.50 for RF, p < 0.0001) and 3D vena contracta area (VCA) (rs = 0.48 for RV, rs = 0.38 for RF, p < 0.0001). Using receiver operating characteristic analysis, the largest area under curve (AUC) to predict severe AR by CMR RV was observed for DFR velocity (AUC = 0.79). DFR velocity of 19.5 cm/s provided 78% sensitivity and 80% specificity. The AUC for 3D VCA to predict severe AR by CMR RV was 0.73, with optimal cut-off of 26 mm2 (sensitivity 80% and specificity 66%). Conclusions: Out of the indirect echo-Doppler indices of AR severity, DFR velocity in descending aorta and 3D vena contracta area showed the best correlation with CMR-derived RV and RF in patients with chronic severe AR.

Sekundarni trikuspidalni regurgitace (TR) u nemocných s chlopennimi vadami leveho srdce je nejcastějsi přicinou trikuspidalni insuficience. Při významných mitralnich a aortalnich vadach se rozviji postkapilarni plicni hypertenze a tlakove přetiženi prave komory způsobuje dilataci prave komory, dilataci trikuspidalniho anulu a vznik sekundarni TR. Echokardiografie je zakladni metodou k posouzeni etiologie a ke kvantifikaci TR. Umožňuje take měřeni dilatace anulu, napinani (tetheringu) cipů, velikosti a funkce prave komory. Magneticka rezonance srdce (CMR) je zlatým standardem při volumetrii a hodnoceni systolicke funkce prave komory. Trojrozměrna echokardiografie a MSCT srdce vykazuji dobrou korelaci s měřenim prave komory pomoci CMR. Sekundarni TR je zavažne a progredujici onemocněni. Pokud neni řeseno, vede k pravostrannemu srdecnimu selhani s ireverzibilnim postiženim prave komory. Chirurgicka lecba TR redukcni anuloplastikou pomoci anuloplastickeho prstence je proto indikovana v době operace levostranne vady nejen při významne TR, ale i u nemocných s dilataci anulu a lehci TR. Izolovana TR rozvijejici se pozdně po operaci levostranne vady ma zavažnou prognozu a vyssi operacni mortalitu. Indikaci k reoperaci izolovane sekundarni TR je rozvoj symptomů, progrese dilatace nebo pocinajici dysfunkce prave komory. Zacina se rozvijet take katetrizacni lecba TR, ktera využiva zařizeni zlepsujici koaptaci cipů nebo perkutanni způsoby anuloplastiky chlopně.

Funding Acknowledgements Type of funding sources: Public grant(s) – National budget only. Main funding source(s): This study was supported by Ministry of Health of the Czech Republic 17-28265A. Background Indication for surgical treatment in asymptomatic patients with severe aortic regurgitation (AR) is curretly based on 2-dimensional echocardiography derived left ventricle (LV) diameter and ejection fraction. Suboptimal sensitivity of this quideline-directed approach may lead to late intervention in a substantial number of patients. Purpose We aimed to develop a new prognostic stratification scheme based on novel imaging and biochemical markers of heart failure. Methods Consecutive patients with chronic severe AR not indicated for surgery per the current guidelines were enrolled into prospective multi-center study. Baseline examination consisted of B-natriuretic peptide (BNP); comprehensive echocardiography (ECHO) including 3-dimensional (3D) vena contracta area (VCA); comprehensive cardiac magnetic resonance (CMR) including regurgitant volume and fraction measurement, and extracellular volume (ECV); all imaging data were analysed in core lab. The perioperative myocardial biopsy from basal septum was performed in all surgically treated patients for histological myocardial fibrosis quantification by Picrosirius Red staining. Patient follow-up was every 6 months. The endpoint was a disease progression (indication for surgery per the current guidelines). Results In total, 132 patients were enrolled between 2015 and 2019, the endpoint occurred in 39 patients during a median follow-up of 1217 days. Baseline clinical data did not differ between patients with endpoint (surgical group) and stable patients (medical group). Baseline BNP levels were higher in the surgical group (57 vs. 20, P Conclusion Baseline CMR-derived LV volumes, CMR-derived regurgitant fraction, and BNP levels can predict disease progression in asymptomatic patients with chronic severe aortic regurgitation. The novel multi-factorial scoring system might identify candidates of early surgical treatment but this hypothesis will require prospective clinical testing. Abstract Figure. Cardiac magnetic resonance imaging

Bikuspidalni aortalni chlopeň je nejcastějsi vrozenou srdecni vadou (VSV) v dospělosti s incidenci mezi 0,5-2 %.Může být asociovana i s dalsimi vrozenými srdecnimi vadami, nejcastěji patologiemi aortalniho oblouku, ale i s defekty komoroveho septa, jejichž incidence v dětskem věku je uvaděna mezi 25-40 %, v dospělosti pak tvoři až 20 % vsech vrozených srdecnich vad. Bikuspidalni aortalni chlopeň je nejcastějsi přicinou aortalni stenozy ci insuficience v mladsim věku. V naproste větsině připadů jsou tyto vady diagnostikovany v dětskem věku a v připadě hemodynamicke významnosti chirurgicky korigovany. Nicmeně i v dospělem věku se lze s dosud nepoznanou kombinovanou vrozenou srdecni vadou setkat. V nasi kasuistice popisujeme připad 51leteho muže s nově zjistěnou kombinovanou vrozenou srdecni vadou - bikuspidalni aortalni chlopni se zavažnou aortalni regurgitaci, hemodynamicky významným defektem septa komor a významnou trikuspidalni regurgitaci.

Uvod: Popisujeme připad 82leteho polymorbidniho pacienta leceneho pomoci Aortofix AAA Flexible Stent Graft System pro symptomaticke 51mm aneurysma subrenalni aorty, u něhož byla tato lecba komplikovana casným uzavěrem prave větve stentgraftu s rozvojem zavažne ischemie prave dolni koncetiny.Metoda: Po provedeni středni laparotomie jsme přistoupili k resekci stentgraftu. Vzhledem k významným kalcifikacim supra- a subrenalni aorty jsme do břisni aorty vložili balonek Nucleus 25 mm namisto přicneho naloženi cevni svorky. Po resekci jsme provedli aortobiilickou revaskularizaci s využitim cevni protezy Intergard Synergy 18/9 mm.Výsledek: V navaznosti na resekci stentgraftu a chirurgickou revaskularizaci byl v postižene dolni koncetině obnoven normalni krevni průtok bez rezidualnich objektivnich ci subjektivnich přiznaků jeji ischemie. Pacient se bez dalsich komplikaci zotavil a pět dnů po operaci byl propustěn z nemocnice.Zavěr: Pokud selže endovaskularni lecba uzavěru větve stentgraftu, zůstava jedinou lecebnou možnosti - navzdory vyssim perioperacnim rizikům a technickým obtižim - chirurgicka terapie.

BACKGROUND The aim of our experimental work was to assess the impact and morphological changes that arise during different thawing protocols on human aortic valve (AV) leaflets resected from cryopreserved aortic root allografts (CARAs). OBJECTIVES Two thawing protocols were tested: 1. CARAs were thawed at a room temperature (23°C); 2. CARAs were placed directly into a water bath at a temperature of 37°C. After all the samples were thawed, non-coronary AV leaflets were sampled from each specimen and fixed in a 4% formaldehyde solution before they were sent for morphological analysis. MATERIAL AND METHODS All the samples were washed in distilled water for 5 min and dehydrated in a graded ethanol series (70%, 85%, 95%, and 100%) for 5 min at each level. The tissue samples were then immersed in 100% hexamethyldisilazane (HMDS) for 10 min, and then air-dried in an exhaust hood at room temperature. Processed samples were mounted on stainless steel stubs and coated with gold. Histological analysis was performed with the use of an electron microscope on a scanning mode operating at 25 kV - BS 301. RESULTS Thawing protocol 1 (room temperature at 23°C): 6 (100%) samples showed loss of the endothelial covering of the basal membrane with no damage to the basal lamina. Thawing protocol 2 (water bath at 37°C): 5 (83%) samples showed loss of the endothelial covering of the basal membrane with no damage to the basal lamina. One (17%) sample showed loss of the endothelial covering the basal membrane with significant damage to the basal membrane. CONCLUSIONS Based on our experimental work, we can clearly conclude that cryopreserved AV leaflet allografts show identical structural changes at different rates of thawing.

Funding Acknowledgements This study was supported by Ministry of Health of the Czech Republic 17-28265A Introduction Management of asymptomatic patients with chronic severe aortic regurgitation (AR) is challenging. Reliable quantification of the AR severity is essential. Transthoracic echocardiography (TTE) is a primary imaging modality. Grading of AR severity is achieved by an integrative approach. Cardiovascular magnetic resonance (CMR) can directly quantify AR severity by measuring regurgitation volume (RV) and regurgitation fraction (RF). Purpose There are few data on direct comparison between TTE and CMR for quantification of AR. Our study aimed to compare quantitative and indirect echo-Doppler indices to quantitative MRI derived parameters in asymptomatic patients with severe chronic AR. Methods In a prospective three-centre study, we evaluated patients with moderate to severe (3+) and severe (4+) chronic AR using TTE and CMR. All patients were asymptomatic, without indication for surgical treatment. The severity of AR was graded using TTE multiparametric approach. A 2-D and 3-D TTE were performed with an assessment of left ventricle size and function, valve morphology, Doppler parameters of AR including vena contracta width, diastolic flow reversal velocity in descending aorta, RV, RF using volumetric method, 3D-vena contracta area (3D-VCA). The CMR quantified left ventricle volumes and function, RF and RV using the phase-contrast velocity mapping. All imaging studies were analysed in CoreLab. Results A total of 104 patients were enrolled during 2015-2018. Mean patient age was 44 ± 13 years, 89 patients (86%) were males and 83 patients (81%) had a bicuspid or unicuspid aortic valve. Using the TTE severe (4+) AR was present in 48 (46%) and moderate to severe (3+) AR in 56 (54%) individuals. Concordant grading of AR severity with both techniques was observed in 77 (74%) patients. An integrative TTE approach showed a trend to underestimate AR severity. The best correlation between echo-Doppler indices and CMR measured RV and RF was found in two parameters: diastolic flow reversal velocity in descending aorta ( Rs = 0,62, p Correlation between quantitative parameters of AR assessed by TTE volumetric method and CMR technique was modest (Rs = 0,40 for RF and Rs = 0,50 for RV, p Conclusion Out of indirect Doppler-echo indices of AR severity, diastolic flow reversal velocity in descending aorta and 3D-vena contracta area showed the best correlation with MRI derived RF and RV in patients with chronic severe AR. Quantitative parameters of AR (RF and RV) assessed by echo volumetric method had an only modest correlation to RF and RV measured using CMR.

Background: Determining the value of new imaging markers to predict aortic valve (AV) surgery in asymptomatic patients with severe aortic regurgitation (AR) in a prospective, observational, multicenter study. Methods: Consecutive patients with chronic severe AR were enrolled between 2015&ndash, 2018. Baseline examination included echocardiography (ECHO) with 2- and 3-dimensional (2D and 3D) vena contracta area (VCA), and magnetic resonance imaging (MRI) with regurgitant volume (RV) and fraction (RF) analyzed in CoreLab. Results: The mean follow-up was 587 days (interquartile range (IQR) 296&ndash, 901) in a total of 104 patients. Twenty patients underwent AV surgery. Baseline clinical and laboratory data did not differ between surgically and medically treated patients. Surgically treated patients had larger left ventricular (LV) dimension, end-diastolic volume (all p &lt, 0.05), and the LV ejection fraction was similar. The surgical group showed higher prevalence of severe AR (70% vs. 40%, p = 0.02). Out of all imaging markers 3D VCA, MRI-derived RV and RF were identified as the strongest independent predictors of AV surgery (all p &lt, 0.001). Conclusions: Parameters related to LV morphology and function showed moderate accuracy to identify patients in need of early AV surgery at the early stage of the disease. 3D ECHO-derived VCA and MRI-derived RV and RF showed high accuracy and excellent sensitivity to identify patients in need of early surgery.

Papilarni fibroelastom je třetim nejcastějsim primarnim benignim nadorem srdce, který se typicky nachazi na endokardu chlopni, nejcastěji levostranných. Autoři prezentuji kasuistiku 52leteho nemocneho s opakovanými kardioembolizacnimi přihodami do cerebralnich arterii, jejichž podkladem byl fibroelastom vychazejici z volne stěny leve komory, který byl vzhledem ke sve symptomaticnosti indikovan k chirurgicke excizi.

Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The patient presented with mild coarse facial features, short stature, mild dyspnea, sternal protrusion, mild lumbar hyperlordosis, and waddling gait owing to bilateral femoral head necroses and bilateral arthrosis of the knees. The patient also suffered from dyspnea, NYHA II–III. Echocardiography revealed severe stenosis of a calcified aortic valve (AVA 0.67 cm2, AVAi 0.45 cm2/m2, PG max/mean 130/80 mmHg), left ventricular hypertrophy with predominant septal thickening (18 mm) and mild left ventricle outflow tract obstruction at rest, mild mitral valve regurgitation, and dilated ascending aorta (36 mm, 26.5 mm/m2). Dyspnea resolved after septal myectomy and replacement of the aortic valve with bioprosthesis. Excretion levels and spectrum of glycosaminoglycans (GAGs) in urine were normal in the patient. We confirmed the diagnosis of MPS IVB by identifying decreased beta-galactosidase activity in isolated leukocytes (6 nmol/h/mg; controls 95–272) and by molecular genetic analyses (c.438_440delTCT and c.817_818TG>CT mutations in the GLB1 gene). Primary lysosomal storage of glycosaminoglycans was detected in fibroblasts of the aortic valve. Additional pathologies included valvular fibrosis, calcification, neovascularization, and mild chronic inflammation. In conclusion, the diagnosis of MPS IVB should be considered in older patients with cardiac valvular disease and progressive skeletal abnormality even if urinary excretion levels of GAGs are normal.

Erectile dysfunction significantly affects quality of life in young men. Authors have evaluated erectile function in men with coronary artery disease (CAD) and the relationship between the degree of erectile dysfunction (ED) and the age of their first acute myocardial infarction (AMI). The incidence of erectile dysfunction in three groups of patients of AMI survivors was investigated: AMI survivors younger than 45 years, AMI survivors older than 65 years, and normal male population aged between 30 and 60 years. Erectile function was assessed by the International Index of Erectile Function (IIEF-5) questionnaire. In post-AMI male patients younger than 45 years ( n = 76), mild ED occurred in 26% and severe in 7%. In the older AMI group, mild ED occurred in 52% and severe in 38%. In the control group age matched to younger survivors, 96% denied ED and only one control patient had a score of 20 on the IIEF-5. A paradoxical result was observed in patients using beta blockers (BB), who had better scores than the group without BB. Statin treatment had a positive influence on the score in questionnaires. Those on statins had an average score of 21.0 ± 4.9 vs. without statin 17.7 ± 5.7, p = .03. The current findings identified that the prevalence of ED is relatively high in young patients with CAD and is related to treatment of the CAD. The overall increase in ED presence suggests that the background of their coronary event is not due to destabilization of single focused atheroma but may reflect a generalized atherosclerotic process.

We are presenting a case report of failed valve-in-valve treatment of severe aortic stenosis. A control ultrasonography after TAVI implantation revealed a severe aortic regurgitation of the graft which was subsequently unresolved with postimplantation dilatation. Second TAVI was implanted with cranial dislocation to the aortic root. Patient underwent a CT examination to clarify the TAVI in TAVI position. Patient underwent a surgical resection of TAVI with implantation of biological aortic valve prosthesis. In situations where TAVI treatment fails or is complicated beyond the possibility of endovascular repair, surgical intervention despite its higher risks is the preferred choice.

Ventricular outpouchings include acquired abnormalities (aneurysms and pseudoaneurysms) and congenital ventricular diverticula (CVD). CVD represent rare cardiac pathologies. Although CVD is often associated with other cardiac and extracardiac congenital anomalies, it can also be incidentally observed in otherwise healthy subjects. CVD may lead to significant morbidity and even have lethal consequences. We describe a case of arrhythmogenic left ventricle (LV) apical CVD revealed by cardiac magnetic resonance imaging (CMRI) after being initially overlooked by echocardiography. The paper includes the review of the literature also. This clinical case highlights the possible association of this pathology with recurrent ventricular tachycardia and stroke, and illustrates the importance of multimodal imaging approach in differential diagnosis.

The incidence of acute myocardial infarction (AMI) increases with clustering of predisposing risk factors. In younger subjects with a positive family history of AMI occurring in relatives under the age of 60 years without obvious risk factors for atherosclerosis, there is a potential for strong inherited traits contributing to the risk of coronary disease. Among them there is increasing evidence that hereditary thrombophilia may play a major role. We present a unique case of a patient developing AMI at the age of 48 years. In this patient, without traditional risk factors for atherosclerosis, eight mutations and polymorphisms in six different genes were identified: polymorphism of factor V Leiden (1691 GA), factor II prothrombin (20210 GA), methylenetetrahydrofolate reductase (MTHFR, 677 CT and 1298 AC), plasminogen activator inhibitor 1 (PAI-1) polymorphism 4G/5G and glycoprotein VI (GP6, 13254 TC, Ser219Pro). All could be involved in the pathogenesis of the arterial thrombosis. Although such associations are extremely rare, it underlines the importance of thrombophilia assessment in cases with otherwise unexpected coronary disease occurring at young age. According to our experience, in the case of documented hereditary thrombophilia lineal relatives should be examined and/or followed up.

The aldosterone synthase gene (CYP11B2) is an important candidate gene region in essential hypertension. We therefore studied the association of -344T/C polymorphism of the CYP11B2 gene with the presence and severity of hypertension in a case-control study. We studied 369 individuals, of whom 213 were hypertensive patients (139 controlled hypertensive, 74 resistant hypertensive) and 156 were healthy normotensive subjects. The -344T/C polymorphism of the CYP11B2 gene was determined using polymerase chain reaction - restriction fragment length polymorphism analysis. The distribution of genotypes in normotensive controls and hypertensive subjects were: TT 25.6 vs. 31.9 %, TC 51.9 vs. 57.3 % and CC 22.4 vs. 10.8 %. The -344T/C variant was associated with hypertension. Subjects carrying the -344T allele had a greater risk of hypertension compared to those having C allele (χ2 =5.89, p

Background: The differentiation between chronic pulmonary thromboembolic hypertension (CTEPH) and pulmonary arterial hypertension (PAH) remains a clinical challenge. Recently, it has been suggested that pulmonary artery pulsatility indexes, determined either invasively or noninvasively, could enable the discrimination between CTEPH and PAH.Aim of the study: To evaluate the usefulness of both echocardiographically- and invasively-derived pulmonary artery pulsatility indexes in the etiologic differentiation of patients with CTEPH and PAH.Methods: We retrospectively analyzed the results of echocardiographic and invasive hemodynamic examinations in 97 patients with either CTEPH (n = 48) or PAH (n = 49). Using echocardiography, pulmonary artery systolic (PASP), diastolic (PADP) and mean (PAMP) pressures were estimated from velocities of tricuspid regurgitation and pulmonary regurgitation, respectively. Invasive data were obtained in 39 patients with CTEPH and 44 patients with PAH using a fluid-filled s...

The aim of the study was to examine whether the circulating cell adhesion molecules, von Willebrand factor (vWf) and endothelin-1, are elevated in patients with essential hypertension with no other risk factors for atherosclerosis and thus may serve as a markers of endothelial dysfunction in uncomplicated hypertension. Furthermore, the effect of treatment with the ACE inhibitor, quinapril, on levels of endothelial dysfunction markers were studied. The levels of adhesion molecules (intercellular cell adhesion molecule-1 [ICAM-1], E-selectin, P-selectin), von Willebrand factor (vWf) and endothelin-1 were measured in patients with hypertension without any other risk factors of atherosclerosis before and after treatment with quinapril (n = 22) and in normotensive controls (n = 22). Compared with normotensive subjects, the hypertensive patients had significantly higher levels of ICAM-1 (238 vs 208 ng/ml, P = 0.02), vWf (119 vs 105 IU/dl, P < 0.05) and endothelin-1 (5.76 vs 5.14 fmol/ml, P < 0.05). Three-month treatment of hypertensive patients with quinapril led to a significant decrease in the levels of endothelin-1 (5.76 vs 5.28 fmol/ml, P < 0.01). We did not observe significant changes in the levels of adhesion molecules and vWf after ACE inhibitor treatment, although a trend toward a decrease was apparent with all these parameters. Patients with uncomplicated hypertension with no other risk factors of atherosclerosis had significantly elevated levels of ICAM-1, vWf, and endothelin-1. Our data suggest that these factors may serve as markers of endothelial damage even in uncomplicated hypertension. In hypertensive patients, treatment with the ACE inhibitor quinapril resulted in a significant decrease in endothelin-1 levels. These findings indicate a beneficial effect of ACE inhibitors on endothelial dysfunction in hypertensive patients.

Since beta2-adrenergic receptors (beta2AR) can influence blood pressure not only by vasodilation, but also participate in noradrenaline release from sympathetic nerve endings, we have studied whether Arg16Gly polymorphism of the beta2AR gene is associated with predisposition to essential hypertension and increased plasma noradrenaline concentration in offspring from normotensive (SN) and hypertensive parents (SH).The study population consisted of 105 young SN and 101 SH subjects matched for age and body mass index. Arg16Gly polymorphism of the beta2AR gene was determined by polymerase chain reaction (PCR) technique and subsequent incubation with NcoI restriction enzyme. Resulting fragments were separated using electrophoresis on a 4.2% Metaphor agarose gel.SH already had significantly higher systolic BP, and a tendency to higher diastolic BP than the SN group. The frequency of Arg/Arg homozygotes was significantly increased in SH when compared to SN (25% vs 15%). Results of logistic regression analysis showed the highest relative risk for the Arg/Arg genotype and suggested a recessive action of the Arg16 variant. There was an increased diastolic BP in Arg/Arg homozygotes of the SN group (p = 0.029). This genotype also had a tendency to increased heart rate in both groups (p = 0.049). There was no relationship of this polymorphism with plasma noradrenaline concentration.Our findings suggest that genetic variability of the beta2AR gene is implicated in predisposition to essential hypertension. However, the contradictory results between individual studies indicate that the action of the beta2AR gene is indirect, through multiple intermediate phenotypes and gene interactions.

The differentiation between chronic pulmonary thromboembolic hypertension (CTEPH) and pulmonary arterial hypertension (PAH) remains a clinical challenge. The aim of our study was to evaluate the usefulness of both echocardiographically and invasively derived pulmonary artery pulsatility indexes in the etiologic differentiation of patients with CTEPH and PAH. We retrospectively analyzed the results of echocardiographic and invasive hemodynamic examinations in 125 patients with either CTEPH (n = 62) or PAH (n = 63). Invasive data were obtained in 52 patients with CTEPH and 43 PAH patients. Using echocardiography, pulmonary artery systolic (PASP), diastolic (PADP) and mean (PAMP) pressures were estimated from velocities of tricuspid regurgitation and pulmonary regurgitation, respectively. Pulse pressure (PP) was calculated as the difference between PASP and PADP. To obtain pulmonary artery pulsatility indexes, we normalized PP by PASP (PP/PASP), by PAMP (PP/PAMP) and by PADP (PP/PADP). Pulsatility indexes assessed by echocardiography did not differ between CTEPH and PAH patients except for PP/PAMP [PP/PAMP (1.82 ± 0.33 vs. 1.40 ± 0.3, p < 0.001)]. Invasively derived pulsatility indexes were significantly higher in subjects with CTEPH (0.60 ± 0.08 vs. 0.53 ± 0.09 for PP/PASP; 0.98 ± 0.21 vs. 0.81 ± 0.21 for PP/PAMP; 1.58 ± 0.52 vs. 1.21 ± 0.41 for PP/PADP; all p < 0.001). The areas under the receiver-operating characteristic curves analysis showed that no cutoff value allowed discriminating between CTEPH and PAH by using echocardiographically or invasively derived pulsatility indices. Invasively derived pulmonary artery pulsatility indexes as well as echocardiographically determined PP/PAMP indexes are higher in CTEPH compared to PAH. However, due to the important overlap no optimal threshold values of these parameters can be given to allow satisfactory discrimination of the two diseases in clinical practice.

Aldosterone plays an important role in development of left ventricular (LV) hypertrophy and myocardial fibrosis. We assessed the influence of the T-344C polymorphism of aldosterone synthase - the rate-limiting enzyme in aldosterone biosynthesis - on the structure of the left ventricle in young normotensive men.The population included 113 normotensive mid-European Caucasian men aged 18-40 years (mean 27 +/- 5 years). The genotype was assessed using polymerase chain reaction with subsequent cleavage with restriction enzyme HAEIII (restriction fragment length polymorphism method) and visualization with ethidium bromide. Plasma renin activity (PRA) and plasma aldosterone were measured. All subjects were examined by echocardiography and LV mass was assessed by using M-mode based ASE formula.The distribution of the genotypes was TT 23%:TC 55%:CC 22%. There were no differences in blood pressure among the groups. Men with the TT genotype had significantly higher levels of PRA (2.7 +/- 1.7 vs 1.8 +/- 1.0 vs 1.8 +/- 1.1 ng/ml/h, p0.01) and slightly higher plasma levels of aldosterone (113 +/- 64 vs 93 +/- 43 vs 87 +/- 39 pg/ml, p = 0,12). In the whole population, LV mass index (LVMI) did not differ significantly among the genotypes (92 +/- 16 vs 86 +/- 18 vs 84 +/- 16 g/m, p=0.20). In the population divided according to PRA, subjects with high renin had significantly higher LVMI in presence of the TT genotype (95 +/- 17 vs 84 +/- 16 vs 81 +/- 15 g/m, p0.05).In agreement with previous studies, we found that the TT genotype of T-344C polymorphism of aldosterone synthase gene was associated with significantly higher levels of PRA in normotensive men. In subjects with high PRA, the TT genotype was associated with higher values of the LVMI.

Wilson disease is an inherited autosomal recessive disorder of copper metabolism resulting in pathological accumulation of copper in the liver, brain and other tissues. One of the reported manifestations is cardiac involvement.We studied 42 patients with Wilson disease (19 men and 23 women, mean age 34 +/- 10 y) and 42 age- and sex-matched healthy volunteers. All subjects underwent complete echocardiographic examination; 24 h ECG Holter monitoring was performed in 23 Wilson disease patients.In comparison to healthy subjects, patients with Wilson disease had increased thickness of the interventricular septum (9.5 +/- 1.4 vs 8.6+/-1.1 mm, p0.01) and left ventriclular (LV) posterior wall (9.1 +/- 1.3 vs 8.2 +/- 1.0 mm, p0.01). While the two groups did not differ in LV mass index, relative LV wall thickness was significantly increased in Wilson disease patients compared to control subjects (0.39 +/- 0.06 vs 0.34 +/- 0.04 p0.001). Concentric LV remodelling was present in 9 patients (21%) and LV hypertrophy in one patient. Systolic LV function showed a nonsignificant trend towards lower values in Wilson disease patients (EF 62 +/- 5% vs 64 +/- 50%, p = 0.06). Diastolic filling and the frequency of valvular abnormalities were comparable in both groups. The established echocardiographic abnormalities did not correlate with the type of Wilson disease manifestation, the presence of the His1069Gln mutation, laboratory parameters or the duration and type of therapy. Twenty-four-hour ECG Holter monitoring detected ECG abnormalities in 10 patients (42%), the most frequent findings being runs of supraventricular tachycardias and frequent supraventricular ectopic beats.Cardiac involvement in Wilson disease patients was mild, characterized by LV parietal thickening with an increased prevalence of concentric LV remodelling and a relatively high frequency of benign supraventricular tachycardias and extrasystolic beats.

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