Xusto Fernández

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AIMS The E101K mutation in the alpha-cardiac actin gene (ACTC) has been associated with apical hypertrophic cardiomyopathy (HCM). As prominent trabeculations were described in some carriers, we screened for the E101K mutation in our index patients with HCM, dilated cardiomyopathy (DCM), or left ventricular non-compaction (LVNC). METHODS AND RESULTS(More)
OBJECTIVES We aimed to study the prevalence of Fabry disease (FD) in patients with hypertrophic cardiomyopathy (HCM). BACKGROUND There are limited and controversial data about the prevalence of FD in patients with HCM. METHODS We screened the plasma alpha-galactosidase A activity from 508 unrelated patients with HCM (328 men, 180 women, ages 58 +/- 16(More)
AIMS To clarify the mechanisms of electrocardiographic abnormalities in hypertrophic cardiomyopathy, 102 patients were examined with cardiac magnetic resonance. Distribution and magnitude of hypertrophy and late-enhancement were correlated with electrocardiographic abnormalities. METHODS AND RESULTS Abnormal Q waves were associated with greater upper(More)
BACKGROUND Stress echo (SE) may have a role in the outcome in patients with hypertrophic cardiomyopathy (HCM). OBJECTIVES The aim was to assess the prognostic value of SE in a retrospective multicenter study in HCM. METHODS We enrolled 706 HCM patients. The employed stress was exercise (n=608) and/or vasodilator (n=146, dipyridamole in 98 and adenosine(More)
BACKGROUND Although exercise echocardiography may assess left ventricular (LV) function and LV outflow tract (LVOT) gradients during exercise in patients with hypertrophic cardiomyopathy (HCM), its value for predicting outcomes has not been studied. The aim of this study was to determine whether exercise echocardiography predicts outcomes in patients with(More)
The degree of exercise capacity is poorly predicted by conventional markers of disease severity in patients with hypertrophic cardiomyopathy (HC). The principal mechanism of exercise intolerance in patients with HC is the failure of stroke volume augmentation due to left ventricular (LV) diastolic dysfunction. The role of LV chamber stiffness, assessed(More)
OBJECTIVE Ghrelin is a hormone secreted mainly in the stomach which stimulates appetite and food intake. Endocrine factors are among the causes of anorexia in elderly people. The main objective of the present study was to examine the effect of age on ghrelin levels in non-institutionalized elderly people. DESIGN AND SETTING Observational, cross-sectional,(More)
MyBPC3 mutations are amongst the most frequent causes of hypertrophic cardiomyopathy, however, its prevalence varies between populations. They have been associated with mild and late onset disease expression. Our objectives were to establish the prevalence of MyBPC3 mutations and determine their associated clinical characteristics in our patients. Screening(More)
INTRODUCTION AND OBJECTIVES In patients with hypertrophic cardiomyopathy, myocardial fibrosis can be detected by late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging. We investigated the relationships between the extent of LGE, left ventricular morphology and function, and clinical characteristics. METHODS Both cine and(More)
AIMS Cardiotrophin-1 (CT-1) is a cytokine that induces hypertrophy in cardiomyocytes and is associated with left ventricular hypertrophy (LVH) in hypertensive patients. The objective of this study was to evaluate whether plasma CT-1 is associated with hypertrophic cardiomyopathy (HCM). METHODS AND RESULTS The study was performed in 124 patients with HCM.(More)