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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]

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]

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]

• 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]