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Background: Fabry cardiomyopathy (FC) and light‐chain amyloid cardiomyopathy (AL) present with concentric left ventricular (LV) hypertrophy/remodeling and diastolic rather than systolic dysfunction. Direct comparisons are difficult due to rarity and confounded by variability of LV thickness. Aims: To compare LV diastolic and systolic properties between patients with FC and AL in a cohort matched for interventricular septal thickness (IVS). Methods: A two‐center echocardiographic analysis was performed, comprising 118 patients with IVS ≥12 mm (FC and AL 59 patients each) matched by IVS. Results: Fabry cardiomyopathy patients had larger LV end‐diastolic diameter (47.7 [44.0–50.9] vs 45.0 [41.5–49.0] mm, P = 0.002), better LV ejection fraction (EF 68.7 [63.4–74.0] vs 63.0 [54.0–70.0]%, P = 0.001) and midwall fractional shortening (midFS 14.8 [13.0–16.1] vs 12.1 [8.9–15.0]%, P = 0.006). LV EF <40% was rare in both (2% vs 7%, P = 0.17). AL patients expressed higher LV diastolic dysfunction grade (III in 26% vs 4%, II in 21% vs 12% and I in 54% vs 84%, P = 0.004), with higher E/e' ratio (13.6 [10.2–18.8] vs 9.8 [7.5–12.3], P < 0.0001). Average E/e' ratio and midFS were significantly associated with NYHA severity in both groups (P < 0.05 for all). Conclusions: Matched AL patients had worse LV diastolic function than FC, driven by E/e'. Significant LV systolic dysfunction was rare overall. MidFS and E/e' were associated with heart failure severity in both groups. [ABSTRACT FROM AUTHOR]

Aim of the study: To assess the diagnostic utility of a simplified approach to relative apical sparing of longitudinal strain (RAS LS) using only an apical four‐chamber view (A4C) in patients with AL amyloid cardiomyopathy (ALAC). Methods: We retrospectively evaluated echocardiographic recordings of 20 patients with ALAC, 20 patients with Fabry disease‐related cardiomyopathy (FD), and 20 patients with concentric hypertensive left ventricular hypertrophy (HLVH) matched for mean LV mean thickness. Peak segmental LS values of the interventricular septum and lateral LV wall were measured in the A4C using two‐dimensional speckle‐tracking echocardiography. RAS LS was calculated as average apical LS/(average basal LS + average midventricular LS). Results: Relative apical sparing of longitudinal strain values in patients with ALAC (1.23 ± 0.64) were significantly higher than those in FD patients (0.75 ± 0.19, P < 0.05) as well as in individuals with HLVH (0.75 ± 0.23, P < 0.05), but with a significant overlap. The optimal RAS LS value differentiating ALAC from FD and HLVH with 70% sensitivity and 75% specificity was 0.88 (AUC 0.79). In multivariate modeling, RAS LS was significantly additive to traditional predictors of ALAC (low QRS voltage and pseudoinfarct ECG patterns, pericardial effusion, E/e′ ratio, E‐wave deceleration time; P < 0.05 for all models). Conclusions: Simplified RAS LS evaluation represents an attractive approach for diagnostics of ALAC. However, because of considerable overlap with other disorders with hypertrophic phenotype, the analysis of RAS LS in the A4C should be combined with other traditional echocardiographic and ECG predictors in differentiating ALAC from other forms of concentric LV wall thickening. [ABSTRACT FROM AUTHOR]

Background The non-invasive assessment of amyloid heart disease may be challenging. Cardiac magnetic resonance ( CMR) represents a method of choice for assessment of left ventricular ( LV) morphology and function, and it also provides a unique possibility to evaluate the presence of amyloid deposition by the late gadolinium enhancement ( LGE) technique. However, so far, published studies have not been consistent in terms of described LGE patterns associated with amyloid cardiomyopathy. Aims To compare echocardiographic and CMR assessment of LV morphology and function and to evaluate the presence and pattern of LGE in a population of patients with AL amyloid cardiomyopathy. Methods Twenty-two consecutive patients with newly diagnosed AL amyloid cardiomyopathy and without contraindications to CMR were comprehensively examined by echocardiography and CMR. Results Echocardiography and CMR did not differ in the evaluation of interventricular septal thickness, LV end-diastolic diameter and ejection fraction. Significant differences were found between echocardiographic and CMR estimates of LV end-diastolic volume ( P<0·01) and LV mass ( P<0·001). Various global LGE patterns (transmural homogenous or heterogeneous, subendocardial) were present in 17 patients (77%), patchy LGE was observed in one case (4·5%) and suboptimal nulling of the myocardium was reported in two subjects (9%). Conclusions Echocardiography significantly overestimates LV mass and underestimates LV volumes in patients with AL amyloid cardiomyopathy as compared to CMR. As it is present in more than three quarters of individuals with AL amyloid cardiomyopathy, any type of global LGE pattern may be considered as pathogenomic for amyloid heart disease. [ABSTRACT FROM AUTHOR]

Eosinophilic myocarditis (EM) represents a rare form of myocardial inflammation with very heterogeneous aetiology. In developed countries, the most prevalent causes of EM are hypersensitivity or allergic reactions, as well as hematological diseases leading to eosinophilia. The disease may have a variable clinical presentation, ranging from asymptomatic forms to life-threatening conditions. Most patients with EM have marked eosinophilia in peripheral blood. Endomyocardial biopsy needs to be performed in most cases in order to establish a definitive diagnosis of EM. The therapy depends on the underlying aetiology. Immunosuppressive therapy represents the treatment mainstay in the majority of EM forms. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Dilated cardiomyopathy (DCM) represents the third most common cause of heart failure and the most frequent cause of heart transplantation. Infectious, mostly viral, and autoimmune mechanisms, together with genetic abnormalities, have been reported as three major causes of DCM. We hypothesized that Lyme disease (LD), caused by spirochete Borrelia burgdorferi (Bb), might be an important cause of new-onset unexplained DCM in patients living in a highly endemic area for LD such as the Czech Republic. We performed endomyocardial biopsy (EMB) in 39 consecutive patients presenting with symptomatic unexplained left ventricular (LV) systolic dysfunction lasting no more than 12 months. In eight subjects (21%), Bb was detected in the EMB sample by polymerase chain reaction or by electron microscopy. None of these patients exhibited any form of atrioventricular block or other extracardiac manifestation of Bb infection. Serological testing identified IgG antibodies against Bb in only two cases and IgM antibodies in none. All affected patients were treated with intravenous ceftriaxone for 3 weeks. At 6 months follow-up, LV morphology and function as well as functional status of these patients significantly improved. In conclusion, Bb infection may represent an important cause of new-onset unexplained DCM in patients living in endemic regions such as the Czech Republic. Because the antibiotic treatment appears to be markedly effective and serological examination does not provide a tool for diagnosing the disease, EMB focused on the detection of Bb should be performed in all patients from endemic areas with new-onset unexplained DCM not responding to conventional therapy. [ABSTRACT FROM AUTHOR]

Purpose: To assess cardiac structural and functional changes induced by competitive amateur cycling. Methods: Fifty-one young competitive amateur male cyclists and 47 age- and gender-matched control subjects underwent complex transthoracic echocardiographic examination focused on the detailed assessment of cardiac size and function, especially of the left ventricle (LV). Subsequently, spiroergometry was performed in all study participants and its results were compared to echocardiographic data. Results: Higher left ventricular mass indexes due to the greater LV wall thickness and LV end-diastolic diameter were found in amateur cyclists as compared to control subjects. There were no differences with regard to the LV systolic function parameters. However, significantly better indices of LV diastolic function were present in cyclists. A significant correlation between maximal oxygen pulse and LV mass index/height2.7, LV diastolic parameters and right ventricular size was noted. Conclusions: Amateur competitive cycling leads to considerable LV structural and functional changes. The increases in LV wall thickness and cavity size together with supranormal diastolic properties are key characteristics of this LV remodeling. As well, LV mass, diastolic function, and RV size are predictors of exercise capacity, indicating an important involvement of these elements in improving cardiac function with endurance training. (Echocardiography 2010;27:11-16) [ABSTRACT FROM AUTHOR]

The time interval (TEa–E) between onsets of early diastolic mitral annular velocity (Ea) and early mitral inflow velocity (E) has been proposed as a new index of left ventricular (LV) relaxation. We aimed to assess the influence of preload changes on this parameter by examining 25 healthy volunteers at rest, after passive leg lifting, and after administration of nitroglycerin combined with Valsalva maneuver. To obtain septal and lateral TEa–E, the time intervals between peak R-wave on electrocardiogram and the onsets of Ea and E were measured in different cardiac cycles. E and Ea were significantly changed by preload manipulations. We did not observe significant changes of TEa–E intervals after leg lifting or after nitroglycerin administration combined with Valsalva maneuver (P = NS). TEa–E was < 0 ms in several subjects using either septal or lateral Ea recordings. We conclude that TEa–E may be load independent in subjects with normal LV systolic and diastolic function as compared to other Doppler parameters. Therefore, this index could be potentially used as a reliable noninvasive parameter of LV relaxation. Nevertheless, even slight differences in cardiac cycle lengths might influence the measurements of TEa–E interval. For that reason, the clinical use of TEa–E seems to be significantly limited because of a wide margin of error in its measurement due to the inability to obtain Doppler recordings during the same cardiac cycle. [ABSTRACT FROM AUTHOR]

Background: Available studies of the effect of hemodialysis (HD) on left ventricular (LV) performance brought ambiguous results. Therefore we aimed to investigate the effect of acute preload reduction induced by HD on conventional and novel parameters of LV structure and function. Methods: Thirty-six patients underwent echocardiography 1 hour prior to and 1 hour following regular HD. M-mode, two-dimensional, and Doppler echocardiography were used to analyze conventional LV structural and functional parameters. Systolic and diastolic mitral annular velocities assessed by pulsed-wave tissue Doppler echocardiography (PW-TDE) and flow propagation velocity (Vp) of early LV inflow were measured as novel indices of LV systolic and diastolic function. Results: After HD, all heart chambers including LV significantly reduced in their size. The reduction in LV mass was also observed. Parameters of LV systolic function—ejection fraction and systolic mitral annular velocity, significantly improved, whereas fractional shortening did not. As for LV diastolic function, conventional Doppler parameters and Vp were substantially changed after HD. Conversely, PW-TDE diastolic velocities were not significantly affected. Conclusions: The fluid removal induced by HD leads to a substantial decrease in LV size and mass. The improvement of LV longitudinal contraction documented by PW-TDE seems to be responsible for the increase in global LV systolic function after HD. While standard Doppler parameters of LV diastolic function and Vp are significantly affected by preload reduction, PW-TDE diastolic indices appears to be less load dependent. Therefore, PW-TDE represents a promising method for the LV diastolic function assessment in patients on HD. [ABSTRACT FROM AUTHOR]

Introduction: Late failure of originally successful endoscopic third ventriculostomy (ETV) is considerably less common than failure of ventriculo-peritoneal (V-P) shunt in treatment of hydrocephalus. Death in consequence of late ETV failure is a very rare complication, so far having been mentioned in literature in 13 patients only. Case report: We present the case of an 11-year-old girl who died in consequence of ETV failure 26 months after the endoscopic procedure. Histopathology proved the closure of stoma by gliotic tissue. Conclusion: We can assume that reduced compliance of the ventricular wall in long-term V-P shunt, aqueductal stenosis as a cause of hydrocephalus as well as rapid onset of clinical symptoms prior to ETV might be the cause of acute onset of intracranial hypertension after late ETV failure. Potential prevention of sudden death seems to be the implantation of subcutaneous reservoir during the endoscopic procedure, which allows simple and rapid reduction of intraventricular pressure. [ABSTRACT FROM AUTHOR]

Early diastolic mitral annular velocity (Em) as measured by pulsed-wave tissue Doppler echocardiography (PW-TDE) has been described as a relatively load independent index of left ventricular (LV) relaxation allowing more precise assessment of LV diastolic function. Nevertheless, substantial regional differences in Em are encountered. A systematic study comparing accuracy of the Em values measured at various annular sites in the assessment of LV diastolic function is still lacking. In this study we aimed to compare the discriminating power of Em velocities measured at the various sites of the mitral annulus in distinguishing between normal LV filling and mild to moderate LV diastolic dysfunction, and to determine the optimal cutoff values of Em at each mitral annular site. Em determined by PW-TDE was measured at four mitral annular sites in 69 patients with various heart diseases and compared to LV filling patterns obtained using standard flow Doppler indices. A comparison of receiver operating characteristic curves did not show significant differences for areas under the curve in favor of Em measured at any annular site (0.92 for septal, 0.96 for lateral, 0.96 for inferior and 0.93 for anterior site, 0.95 for the averaged value of Em from all annular sites, and 0.93 for the averaged value from septal and lateral sites, P not significant). The optimal cutoff values of Em were 0.08 m s−1 for septal site (91% sensitivity, 89% specificity), 0.11 m s−1 for lateral site, 0.09 m s−1 for inferior site (both 91% sensitivity, 94% specificity), 0.10 m s−1 for anterior annular site (88% sensitivity, 91% specificity), 0.11 m s−1 for the averaged value of Em from all sites, and 0.11 m s−1 for the averaged value from septal and lateral sites (both 97% sensitivity, 86% specificity). There are no differences in the accuracy of Em velocities obtained at various mitral annular sites regarding the detection of mild to moderate LV diastolic dysfunction. However, different cutoff values of Em at each mitral annular site must be considered for distinguishing between normal and mild to moderate LV diastolic dysfunction. [ABSTRACT FROM AUTHOR]

Fabry disease is an X-linked genetic disorder characterized by progressive intracellular accumulation of neutral glycosphingolipids. Cardiac involvement is frequent and left ventricular (LV) diastolic dysfunction is present in most of the affected subjects. Pulsed-wave tissue Doppler echocardiography (PW-TDE) and color M-mode are new Doppler methods for LV diastolic function evaluation. Their role in the assessment of Fabry disease-related cardiomyopathy remains to be established. In this study we aimed to determine the utility of PW-TDE and color M-mode-derived parameters in the assessment of LV diastolic function in patients with Fabry disease. Eighty-one echocardiographic examinations performed in 35 patients affected by Fabry disease were retrospectively analyzed. Early diastolic lateral mitral annular velocity ( E m) determined by PW-TDE and color M-mode flow propagation velocity ( V p) were measured and compared to LV filling patterns obtained using standard Doppler indexes. The receiver operating characteristics (ROC) curves method was used to determine the summary measure of relative accuracy for E m and V p. A comparison of ROC curves showed a significant difference for areas under the curve in favor of E m ( P < 0.001). Pseudonormal filling pattern, higher LV mass index, higher relative wall thickness, larger left atrial diameter, and older age were more frequent (all P < 0.001) in patients with incorrect diagnosis of normal LV diastolic function based on the measurement of V p. E m appears to be superior to V p in the assessment of LV diastolic function in patients with Fabry disease. V p fails to detect abnormal LV diastolic function in subjects with pronounced concentric LV remodeling and pseudonormal filling pattern. [ABSTRACT FROM AUTHOR]

Abstract: Left ventricular (LV) hypertrophy is the hallmark of cardiac involvement in Fabry disease (FD). However, its pathogenesis is not clearly understood as pathologic substrate accumulation represents only 1–2% of the total cardiac mass. Abnormal myocardial energy metabolism has been previously demonstrated in different forms of cardiomyopathies. We hypothesized that myocardial energy status at the time of diagnosis could have a relationship to gain of LV mass in FD. In the group of 16 affected subjects, the indicators of energetic state of cardiac muscle determined by magnetic resonance spectroscopy showed significant negative correlation with annual increase in LV mass, evaluated during long-term follow-up (8±3 years). Myocardial energy metabolism may therefore represent one of the mechanisms contributing to development of FD-related cardiomyopathy. [ABSTRACT FROM AUTHOR]

Primary cardiac tumors are very rare findings. Papillary fibroelastomas are benign tumors comprising less than 10% of all primary cardiac neoplasms. They are almost always attached to valve surfaces; their location along the ventricular and atrial walls is exceptional. Affected patients are mostly asymptomatic, however peripheral or central embolic events are not rare. We describe an interesting case of papillary fibroelastoma with nonspecific systemic symptoms, arising directly from the left ventricular apex. So far, only four such cases were reported in current literature. [ABSTRACT FROM AUTHOR]

Lipomatous hypertrophy of the interatrial septum (LHIS) is characterized by excessive accumulation of adipose tissue within some segments of the interatrial septum. Only one published case so far describes fever as a presenting feature of LHIS. On the other hand, systemic symptoms including anemia and fever are well-known clinical presentations of cardiac myxomas. We report an unusual case of a 79-year-old woman who was thoroughly but unsuccessfully investigated for recurrent fever and anemia in several specialized departments over the course of 4 years. Computed tomography scan showed a pathological mass localized in the interatrial septum and spreading to ascending aorta. Histological analysis of the biopsy samples from surgery revealed the unexpected diagnosis of regressively changed LHIS. We discuss the clinical and pathologic features of this lesion suggesting that its regressive changes may be associated with inflammation and can cause systemic symptoms such as fever and anemia. [ABSTRACT FROM AUTHOR]

Purpose: Danon disease (DD) is a rare X‐linked disorder caused by pathogenic variants in LAMP2. DD primarily manifests as a severe cardiomyopathy. An early diagnosis is crucial for patient survival. The aim of the study was to determine the usefulness of ocular examination for identification of DD. Methods: Detailed ocular examination in 10 patients with DD (3 males, 7 females) and a 45‐year‐old asymptomatic female somatic mosaic carrier of a LAMP2 disease‐causing variant. Results: All patients with manifest cardiomyopathy had pigmentary retinopathy with altered autofluorescence and diffuse visual field loss. Best corrected visual acuity (BCVA) was decreased (<0.63) in 8 (40%) out of 20 eyes. The severity of retinal pathology increased with age, resulting in marked cone‐rod involvement overtime. Spectral‐domain optical coherence tomography in younger patients revealed focal loss of photoreceptors, disruption and deposition at the retinal pigment epithelium/Bruch's membrane layer (corresponding to areas of marked increased autofluorescence), and hyperreflective foci in the outer nuclear layer. Cystoid macular oedema was seen in one eye. In the asymptomatic female with somatic mosaicism, the BCVA was 1.0 bilaterally. An abnormal autofluorescence pattern in the left eye was present; while full‐field electroretinography was normal. Conclusions: Detailed ocular examination may represent a sensitive and quick screening tool for the identification of carriers of LAMP2 pathogenic variants, even in somatic mosaicism. Hence, further investigation should be undertaken in all patients with pigmentary retinal dystrophy as it may be a sign of a life‐threatening disease. [ABSTRACT FROM AUTHOR]

We present images of a papillary fibroelastoma on a pulmonary valve – echocardiography, intraoperative images, macroscopic and microscopic images of the tumor in this uncommon location. Image 1 • Papillary fibroelastomas are rare benign tumors located most commonly on the aortic or mitral valves. • Their surface is furrowed by avascular fronds resembling a sea anemone or a pom-pom. • Avascular fronds are composed predominantly of fibrous tissue and elastic fibers covered by bland endothelium. • Some papillary fibroelastomas can be excised by a valve-sparing approach. [ABSTRACT FROM AUTHOR]

Background Left atrial (LA) enlargement is a predictor of worse outcome after catheter ablation for atrial fibrillation (AF). Widely used two-dimensional (2D)-echocardiography is inaccurate and underestimates real LA volume (LAV). We hypothesized that baseline clinical characteristics of patients can be used to adjust 2D-ECHO indices of LAV in order to minimize this disagreement. Methods The study enrolled 535 patients (59 ± 9 years; 67% males; 43% paroxysmal AF) who underwent catheter ablation for AF in three specialized centers. We investigated multivariately the relationship between 2D-echocardiographic indices of LA size, specifically LA diameter in M-mode in the parasternal long-axis view (LAD), LAV assessed by the prolate-ellipsoid method (LAVEllipsoid), LAV by the planimetric method (LAVPlanimetry), and LAV derived from 3D-electroanatomic mapping (LAVCARTO). Results Cubed LAD of 106 ± 45 ml, LAVEllipsoid of 72 ± 24 ml and LAVPlanimetry of 88 ± 30 ml correlated only modestly (r = 0.60, 0.69, and 0.53, respectively) with LAVCARTO of 137 ± 46 ml, which was significantly underestimated with a bias (±1.96 standard deviation) of -31 (-111; +49) ml, -64 (-132; +2) ml, and -49 (-125; +27) ml, respectively; p < 0.0001 for their mutual difference. LA enlargement itself, age, gender, type of AF, and the presence of structural heart disease were independent confounders of measurement error of 2D-echocardiographic LAV. Conclusion Accuracy and precision of all 2D-echocardiographic LAV indices are poor. Their agreement with true LAV can be significantly improved by multivariate adjustment to clinical characteristics of patients. [ABSTRACT FROM AUTHOR]

In the last decade, there has been increasing evidence that comprehensive evaluation of the left atrium is of utmost importance. Numerous studies have clearly demonstrated the prognostic value of left atrial volume for long-term outcome. Furthermore, advances in catheter ablation procedures used for the treatment of drug-refractory atrial fibrillation require the need for detailed knowledge of left atrial and pulmonary venous morphology as well of atrial wall characteristics. This review article discusses the role of cardiac magnetic resonance and computed tomography in assessment of left atrial size, its normal and abnormal morphology, and function. Special interest is paid to the utility of these rapidly involving noninvasive imaging methods before and after atrial fibrillation ablation. [ABSTRACT FROM AUTHOR]

Background: Systemic sclerosis (SSc) is an important cause of pulmonary arterial hypertension (PAH), with an estimated prevalence of 7.85-26.7%. Objective: Our aim was to estimate the prevalence of PAH among patients with SSc in the Czech Republic and to compare haemodynamics in SSc patients diagnosed with PAH through screening with those diagnosed previously, based on symptoms. Methods: During 2007, SSc patients in the Czech Republic, without significant pulmonary function impairment or cardiac disease, underwent screening for PAH with transthoracic echocardiography. Those with a tricuspid regurgitant (TR) jet gradient suggestive of PAH (>30 mmHg) underwent subsequent right heart catheterisation (RHC) to confirm the diagnosis (mean pulmonary arterial pressure, mPAP, ≥25 mmHg; pulmonary capillary wedge pressure, ≤15 mmHg). Haemodynamics in patients diagnosed with PAH in this way were compared with those in patients diagnosed previously, based on symptoms. Results: Two hundred and three SSc patients (mean age, 53.8 ± 13 years; 82.3% women) from 26 rheumatology practices were screened. Among these, 17 had a TR jet gradient >30 mmHg and underwent RHC; PAH was confirmed in six patients. These six patients were found to have significantly lower mPAP than nine patients diagnosed previously with PAH, based on symptoms (31.17 ± 5.56 vs. 46.89 ± 9.48 mmHg, p = 0.0014). Conclusion: Prevalence of PAH in our SSc cohort was 7.08%. SSc patients diagnosed with PAH through screening have less advanced disease in terms of haemodynamics than those with PAH diagnosed previously based on symptoms; their prognosis is therefore likely to be more favourable. [ABSTRACT FROM AUTHOR]

Abstract: Background: Cardiac involvement is responsible for substantial morbidity and mortality in Anderson–Fabry disease (AFD). We sought to document its onset and progression in a population of male and female AFD patients. Methods: We performed a cross sectional echocardiographic study of a cohort of 177 male and female AFD patients with subsequent longitudinal follow-up of 76 patients (38 males and 38 females; mean follow-up 4.5 years) who did not receive enzyme replacement therapy. Results: In this population, aged 3.3 to 70.8 years, a strong correlation between age and left ventricular mass indexed (LVMi, g/m2.7) was found in both males and females (P <0.0001 for both). At the initial examination 48.6% of the male patients and 36.4% of the female patients were classified as having left ventricular hypertrophy (LVH). The cumulative prevalence of LVH peaked at age 40 years in males and 60 years in females. In patients with longitudinal follow-up, LVMi increased by 4.07±1.03 g/m2.7 per year in males and by 2.31±0.81 g/m2.7 in females (P <0.01, Wilcoxon rank sum). In patients with LVH at baseline, the median progression rate was 5.52 g/m2.7 per year in males and by 1.80 g/m2.7 in females (P =0.12). Conclusion: AFD is associated with high prevalence of LVH in both genders. However, the age of onset is delayed in females and progression rate slower. [Copyright &y& Elsevier]

Fabry disease (α-galactosidase A deficiency) is an X-linked recessive lysosomal storage disease in which left ventricular hypertrophy (LVH) is common, and if severe, may mimic hypertrophic obstructive cardiomyopathy. Alcohol-induced percutaneous transluminal septal myocardial ablation (PTSMA) has been used as a safe and effective method to alleviate LVH obstruction in patients with hypertrophic obstructive cardiomyopathy (HCM). We describe a case of a classically affected Fabry 53-year-old male with symptomatic HCM (NYHA class III with exertional angina) who was treated with PTSMA. The procedure safely and effectively alleviated symptomatic left ventricular outflow tract obstruction at long-term follow-up, and the patient's NYHA classification was reduced to NYHA class I to II. (ECHOCARDIOGRAPHY, Volume 22, April 2005) [ABSTRACT FROM AUTHOR]

ZEB1 loss-of-function (LoF) alleles are known to cause a rare autosomal dominant disorder—posterior polymorphous corneal dystrophy type 3 (PPCD3). To date, 50 pathogenic LoF variants have been identified as disease-causing and familial studies have indicated that the PPCD3 phenotype is penetrant in approximately 95% of carriers. In this study, we interrogated in-house exomes (n = 3616) and genomes (n = 88) for the presence of putative heterozygous LoF variants in ZEB1. Next, we performed detailed phenotyping in a father and his son who carried a novel LoF c.1279C>T; p.(Glu427*) variant in ZEB1 (NM_030751.6) absent from the gnomAD v.2.1.1 dataset. Ocular examination of the two subjects did not show any abnormalities characteristic of PPCD3. GnomAD (n = 141,456 subjects) was also interrogated for LoF ZEB1 variants, notably 8 distinct heterozygous changes presumed to lead to ZEB1 haploinsufficiency, not reported to be associated with PPCD3, have been identified. The NM_030751.6 transcript has a pLI score ≥ 0.99, indicating extreme intolerance to haploinsufficiency. In conclusion, ZEB1 LoF variants are present in a general population at an extremely low frequency. As PPCD3 can be asymptomatic, the true penetrance of ZEB1 LoF variants remains currently unknown but is likely to be lower than estimated by the familial led approaches adopted to date. [ABSTRACT FROM AUTHOR]

• Mucopolysaccharidosis type VII (MPS VII) is an ultra-rare lysosomal storage disorder. • Valvular disease is often present; however, surgery with histology has never been reported. • MPS VII patient with stenosis of the left side valves and occluded right coronary artery is presented. • Replacement of the valves and bypass grafting improved the patient´s symptoms. • Foamy cytoplasmic infiltration was present in the valvular interstitial cells. Mucopolysaccharidosis type VII (MPS VII) is a rare autosomal recessive lysosomal storage disorder. MPS VII is caused by mutations in the GUSB gene that encodes β-glucuronidase. Adult MPS VII patients present with musculoskeletal abnormalities, coarse features, and corneal clouding. Cardiac and valvular impairment are common; however, severe valvular disease necessitating surgery has not yet been reported. We present a 32-year-old male MPS VII patient admitted to our hospital with decompensated heart failure. We identified aortic valve disease with severe stenosis (valve area 0.69 cm2) and moderate regurgitation. Severe mitral valve stenosis (valve area 1 cm2) with moderate to severe regurgitation was also found in the patient. In addition, an occlusion of the right coronary artery (RCA) was documented. The patient underwent surgical replacement of the mitral and aortic valves with mechanical prostheses and implantation of a venous bypass graft to his RCA. The surgery led to a significant improvement of his clinical symptoms. Six months after the procedure, both mechanical valves function normally. Histopathological assessment identified chronic inflammatory infiltrates, fibrosis and calcifications in both resected valves. Foamy cytoplasmic transformation was most evident in the valvular interstitial cells. The ultrastructural vacuolar abnormality seen in these cells corresponded to storage changes observed in other MPSs. In conclusion, we describe clinical findings and valvular pathology in an MPS VII patient with the first-reported successful combined surgical valve replacement and myocardial revascularization. The histological and ultrastructural analyses revealed that the lysosomal storage predominantly affected the valvular interstitial cells. [ABSTRACT FROM AUTHOR]

Abstract: Background: Takotsubo cardiomyopathy is a disorder that has been appreciated only recently. In most of reported cases, this syndrome mimes an acute myocardial infarction. Till this moment no data are available from literature about the treatment in the acute phase of this disease. Aim of the study: In our multicentric experience we have retrospectively looked at the benefits of a treatment with ACE-inhibitors, beta-blockers, Aspirin and calcium channels blockers, started until the early phases of the disease and continued for 30 days, in 36 patients affected by Takotsubo cardiomyopathy. We chose as endpoint of the study the efficacy of the used drug in improving left ventricular myocardial function and the rapidity of the effects of the same drug.bethods: from an international registry about the Takotsubo cardiomiopathy, co-ordinate by our research group, we evaluated the long term efficacy of some drugs, administrated like single treatment in some patients. Results: Obtained data did not show any statistically significant difference in the percentages of improvement in the left ventricle ejection fraction evaluated at the admission to the hospital, before the discharge and after 30 days of treatment between each treated group and the control group of non-treated patients. No significant differences were found in hospitalization times between treated patients and controls. None of our patients experienced during the observation period a relapse of the disease. Conclusions: The results of our survey suggest that a chronic treatment with beta-blockers, ACE-inhibitors, calcium channels blockers and aspirin does not provide any benefit in patients with Takotsubo cardiomyopathy. Thus, it seem to be important an early correct differential diagnosis to avoid any chronic treatment in these patients. [Copyright &y& Elsevier]

Coronary artery anomalies represent a diverse group of congenital disorders characterized by abnormalities of coronary arteries anatomy. We describe an extremely rare case of giant torturous left circumflex artery draining to the right atrium manifesting by palpitations and atrial fibrillation. [ABSTRACT FROM AUTHOR]