Alessandra Serio

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AIM Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until now technological limitations have hindered elucidation of the contribution of all clinically relevant disease genes to DCM phenotypes in larger cohorts. We now utilized next-generation sequencing to overcome these limitations and screened all DCM disease genes in a large(More)
AIMS The study aimed at evaluating the prevalence of interventricular and intraventricular contractile dyssynchrony in heart failure patients with either normal or prolonged QRS duration. METHODS AND RESULTS Echocardiography and tissue Doppler imaging (TDI) were performed in 158 consecutive patients with advanced left ventricular dysfunction (LVEF<35%);(More)
OBJECTIVES The aim of this study was to analyze the long-term follow-up of dilated cardiolaminopathies. BACKGROUND Lamin A/C (LMNA) gene mutations cause a variety of phenotypes. In the cardiology setting, patients diagnosed with idiopathic dilated cardiomyopathy (DCM) plus atrioventricular block (AVB) constitute the majority of reported cases. METHODS(More)
AIMS The SENIORS trial recently demonstrated that nebivolol reduces the composite risk of all-cause mortality and cardiovascular hospital admission in elderly patients with chronic heart failure and, importantly, that ejection fraction does not influence the clinical effects of nebivolol. An echocardiographic substudy was designed to evaluate the effects of(More)
BACKGROUND In patients with idiopathic pulmonary hypertension (IPAH) progression of the disease and survival are related to the capability of the right ventricle to adapt to the chronically elevated pulmonary artery pressure. Although several echocardiographic variables have been associated with outcome in previous studies, a comparative evaluation of all(More)
OBJECTIVES We sought to describe the diagnostic work-up, phenotype, and long-term evolution of dilated cardiomyopathy (DCM) associated with Dystrophin (DYS) defects. BACKGROUND X-linked DCM associated with DYS defects can be clinically indistinguishable from other types of DCM. METHODS The series comprises 436 consecutive male patients diagnosed with(More)
BACKGROUND The major clinical problem of Marfan syndrome (MFS) is the aortic root aneurysm, with risk of dissection when the root diameter approximates 5 cm. In MFS, a key molecule, transforming growth factor-beta (TGF-beta), normally bound to the extracellular matrix, is free and activated. In an experimental setting, TGF-beta blockade prevents the aortic(More)
Anderson-Fabry disease is a lysosomal storage disorder caused by α-galactosidase defects and progressive intracellular accumulation of globotriaosylceramide. The disease can be specifically treated with enzyme replacement therapy. Hemizygous men and heterozygous women can develop cardiac disease. Whereas men experience the most severe clinical phenotype,(More)
OBJECTIVE To evaluate the prevalence and phenotype of smooth muscle alpha-actin (ACTA2) mutations in non-syndromic thoracic aortic aneurysms and dissections (TAAD). DESIGN Observational study of ACTA2 mutations in TAAD. SETTING Centre for Inherited Cardiovascular Diseases. PATIENTS A consecutive series of 100 patients with TAAD. Exclusion criteria(More)
Whole gene expression analysis through microarray technologies revolutionized the manner of identifying changes in biological events and complex diseases, such as cardiovascular settings. These new methodologies may scan up to 35 000 transcripts at once rather than screening a small amount of genes one at a time. The ability of microarrays to provide a(More)