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Aims: In patients with recently diagnosed non‐ischaemic LV systolic dysfunction, left ventricular reverse remodelling (LVRR) and favourable prognosis has been documented in studies with short‐term follow‐up. The aim of our study was to assess the long‐term clinical course and stability of LVRR in these patients. Methods and results: We prospectively studied 133 patients (37 women; 55 [interquartile range 46, 61] years) with recently diagnosed unexplained LV systolic dysfunction, with heart failure symptoms lasting <6 months and LV ejection fraction <40% persisting after at least 1 week of therapy. All patients underwent endomyocardial biopsy (EMB) at the time of diagnosis and serial echocardiographic and clinical follow‐up over 5 years. LVRR was defined as the combined presence of (1) LVEF ≥ 50% or increase in LVEF ≥ 10% points and (2) decrease in LV end‐diastolic diameter index (LVEDDi) ≥ 10% or (3) LVEDDi ≤ 33 mm/m2. LVRR was observed in 46% patients at 1 year, in 60% at 2 years and 50% at 5 years. Additionally, 2% of patients underwent heart transplantation and 12% experienced heart failure hospitalization. During 5‐year follow‐up, 23 (17%) of the study cohort died. In multivariate analysis, independent predictors of mortality were baseline right atrial size (OR 1.097, CI 1.007–1.196), logBNP level (OR 2.02, CI 1.14–3.56), and PR interval (OR 1.02, CI 1.006–1.035) (P < 0.05 for all). The number of macrophages on EMB was associated with overall survival in univariate analysis only. LVRR at 1 year of follow‐up was associated with a lower rate of mortality and heart failure hospitalization (P = 0.025). In multivariate analysis, independent predictors of LVRR were left ventricular end‐diastolic volume index (OR 0.97, CI 0.946–0.988), LVEF (OR 0.89, CI 0.83–0.96), and diastolic blood pressure (OR 1.04, CI 1.01–1.08) (P < 0.05 for all). Conclusions: LVRR occurs in over half of patients with recent onset unexplained LV systolic dysfunction during first 2 years of optimally guided heart failure therapy and then remains relatively stable during 5‐year follow‐up. Normalization of adverse LV remodelling corresponds to a low rate of mortality and heart failure hospitalizations during long‐term follow‐up. [ABSTRACT FROM AUTHOR]

The article discusses the use of tailored immunosuppressive therapy in immune-mediated biopsy-proven myocarditis. It explains that myocarditis is an inflammatory disease of the myocardium and that endomyocardial biopsy is used to confirm the diagnosis and identify the underlying cause. The article summarizes a study that compared immunosuppressive therapy to conventional therapy in patients without cardiotropic viral infection. The study found that 5-year transplant-free survival was similar in both groups, and biventricular function and NYHA class were also comparable. The article emphasizes the importance of individualizing treatment based on the type and severity of myocarditis and the patient's response and tolerance, and recommends a multidisciplinary team approach for management. Further research is needed to determine the safety and effectiveness of immunosuppressive treatment in patients with myocarditis and viral presence. [Extracted from the article]

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]

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]

Background: A number of studies have already investigated the prevalence of Fabry disease (FD) in adult patients with unexplained left ventricular hypertrophy (LVH) with rates varying from 0 % up to 12 % reflecting referral and gender bias as well as differences in diagnostic methodology. We aimed to perform a prospective screening study evaluating the prevalence of FD in male patients older than 30 years with strictly defined unexplained LVH followed by general cardiologists. Methods: A predefined number of 100 men with unexplained LVH, defined as maximal wall thickness ≥ 13 mm, were identified during an echocardiographic examination in primary cardiology practice and screened by assessing α-galactosidase A activity in dried blood spots (DBS) or in plasma. Results: Four men (52 ± 4 years, maximal LV wall thickness 18 ± 3 mm) were diagnosed with FD confirmed by enzyme analysis in leukocytes as well as by genetic analysis. Mild extracardiac manifestations of FD were present in two of them. Conclusions: The prevalence of FD in our cohort of male patients followed in primary cardiology practice with strictly defined otherwise unexplained LVH was 4 %. We recommend systematic screening for FD in all men older than 30 years with LVH of unknown etiology even in the absence of obvious extracardiac manifestations of FD. [ABSTRACT FROM AUTHOR]

Alu-mediated tandem duplication of exons 4 and 5 (g.15815_22218dup6404) is a novel mutation that has been detected in the LAMP2 gene ( Xq24). This exon copy number variation was found in two brothers with the typical phenotype of Danon disease, including characteristic myocardial changes on magnetic resonance imaging. The 6.4 kb duplication was identified in both boys by a combination of exon dosage qPCR analyses and duplication breakpoint/junction mapping. The rearrangement results in a plethora of abnormal LAMP2 splicing variants and also in use of likely cryptic splice sites in the 3′ terminus of LAMP2 gene. Although we found minute amounts of normal LAMP2B and LAMP2A mRNAs, no protein was detectable in peripheral blood leukocytes by flow cytometry in both brothers. Uniquely, the fraction of LAMP2-deficient granulocytes (0.06 %) assessed by flow cytometry in the patients' asymptomatic mother substantially differed from the random distribution of X-chromosome inactivation in her leukocytes. This discrepancy was later explained by molecular genetic methods as a consequence of mosaic distribution of the mutation in her somatic tissues. Altogether, we report a novel and mosaically distributed exon copy number rearrangement in the LAMP2 gene and comment on obstacles this genetic setup presents to the overall cellular and molecular diagnostic algorithm of Danon disease. Our observations of the mosaicism in the asymptomatic mother suggest that similarly affected females could be a potentially under-diagnosed Danon disease carrier group and that LAMP2 flow cytometry, because of its supreme sensitivity, can be an efficient method for pedigree screening. [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]

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]

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]

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]