Eloisa Arbustini

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. (2009)

Faivre, Laurence, Collod-Beroud, Gwenaëlle, Callewaert, Bert, Child, Anne, Binquet, Christine, Gautier, Elodie, ...

Mutations in the FBN1 gene cause Marfan syndrome (MFS) and a wide range of overlapping phenotypes. The severe end of the spectrum is represented by neonatal MFS, the vast majority of probands...

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. (2009)

Faivre, Laurence, Collod-Beroud, Gwenaëlle, Callewaert, Bert, Child, Anne, Binquet, Christine, Gautier, Elodie, ...

Mutations in the FBN1 gene cause Marfan syndrome (MFS) and a wide range of overlapping phenotypes. The severe end of the spectrum is represented by neonatal MFS, the vast majority of probands...

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. (2009)

Faivre, Laurence, Collod-Beroud, Gwenaëlle, Callewaert, Bert, Child, Anne, Binquet, Christine, Gautier, Elodie, ...

Mutations in the FBN1 gene cause Marfan syndrome (MFS) and a wide range of overlapping phenotypes. The severe end of the spectrum is represented by neonatal MFS, the vast majority of probands...

Usefulness of cardiac magnetic resonance in assessing the risk of ventricular arrhythmias and sudden death in patients with hypertrophic cardiomyopathy (2009)

Leonardi, Sergio, Raineri, Claudia, De Ferrari, Gaetano M., Ghio, Stefano, Scelsi, Laura, Pasotti, Michele, ...

Aims To assess the relationship between cardiovascular magnetic resonance (CMR) parameters and both spontaneous ventricular tachycardia (VT) and risk of sudden cardiac death (SCD) in hypertrophic...

A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy (2009)

Friedrich, Felix W., Bausero, Pedro, Sun, Yuli, Treszl, Andras, Krämer, Elisabeth, Juhr, Denise, ...

Aims Familial hypertrophic cardiomyopathy (FHC) is caused by mutations in genes encoding sarcomeric proteins. Incomplete penetrance suggests the existence of modifier genes. Calmodulin (CaM) could be...

Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy (2009)

Duboscq-Bidot, Laëtitia, Charron, Philippe, Ruppert, Volker, Fauchier, Laurent, Richter, Anette, Tavazzi, Luigi, ...

Aims Dilated cardiomyopathy (DCM) is familial in ∼30% of cases, and mutations have been identified in several genes. However, in a majority of familial cases, the responsible genes are still to be...

Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseases (2008)

Elliott, Perry, Andersson, Bert, Arbustini, Eloisa, Bilinska, Zofia, Cecchi, Franco, Charron, Philippe, ...

In biology, classification systems are used to promote understanding and systematic discussion through the use of logical groups and hierarchies. In clinical medicine, similar principles are used to...

Recommendations for participation in competitive sport and leisure-time physical activity in individuals with cardiomyopathies, myocarditis and pericarditis (2006)

Corrado, Domenico, Bjørnstad, Hans Halvor, Panhuyzen-Goedkoop, Nicole, Urhausen, Axel, Carre, Francois, ...

Several relatively uncommon, but important cardiovascular diseases are associated with increased risk for acute cardiac events during exercise (including sudden death), such as hypertrophic...

Coronary atherosclerosis in end-stage idiopathic dilated cardiomyopathy: an innocent bystander? (2005)

Repetto, Alessandra, Bello, Barbara Dal, Pasotti, Michele, Agozzino, Manuela, Viganò, Mario, Klersy, Catherine, ...

Aims Coronary atherosclerosis is occasionally found in the hearts of patients diagnosed with idiopathic dilated cardiomyopathy (IDCM), who have undergone heart transplantation (HTx). This study...

Coronary atherosclerosis in end-stage idiopathic dilated cardiomyopathy: an innocent bystander? (2005)

Repetto, Alessandra, Bello, Barbara Dal, Pasotti, Michele, Agozzino, Manuela, Viganò, Mario, Klersy, Catherine, ...

Aims Coronary atherosclerosis is occasionally found in the hearts of patients diagnosed with idiopathic dilated cardiomyopathy (IDCM), who have undergone heart transplantation (HTx). This study...

Cardiomyology: an attempt to link structural cardiac and skeletal muscle damage in patients with dilated cardiomyopathy (2004)

Arbustini, Eloisa, Repetto, Alessandra, Pasotti, Michele, Azan, Gaetano, Opasich, Cristina, Campana, Carlo, ...

Background Patients with chronic heart failure syndrome may develop a myopathy contributing to muscle wasting and exercise intolerance. Little is known about skeletal muscle pathology in patients...

Rescreening of "healthy" relatives of patients with dilated cardiomyopathy identifies subgroups at risk of developing the disease (2004)

Repetto, Alessandra, Serio, Alessandra, Pasotti, Michele, Fontana, Alessandra, Bertoletti, Alessandra, Scelsi, Laura, ...

Objectives To test the diagnostic impact of the non-invasive rescreening of relatives of index patients consecutively diagnosed as having dilated cardiomyopathy. Background The aim of rescreening...

Apoptosis in heart failure: Release of cytochrome c from mitochondria and activation of caspase-3 in human cardiomyopathy

Narula, Jagat, Pandey, Pramod, Arbustini, Eloisa, Haider, Nezam, Narula, Navneet, Kolodgie, Frank D., ...

Apoptosis has been shown to contribute to loss of cardiomyocytes in cardiomyopathy, progressive decline in left ventricular function, and congestive heart failure. Because the molecular mechanisms...

Apoptosis in heart failure: Release of cytochrome c from mitochondria and activation of caspase-3 in human cardiomyopathy

Narula, Jagat, Pandey, Pramod, Arbustini, Eloisa, Haider, Nezam, Narula, Navneet, Kolodgie, Frank D., ...

Apoptosis has been shown to contribute to loss of cardiomyocytes in cardiomyopathy, progressive decline in left ventricular function, and congestive heart failure. Because the molecular mechanisms...

Mitochondrial DNA Mutations and Mitochondrial Abnormalities in Dilated Cardiomyopathy

Arbustini, Eloisa, Diegoli, Marta, Fasani, Roberta, Grasso, Maurizia, Morbini, Patrizia, Banchieri, Nadia, ...

Mitochondrial (mt)DNA defects, both deletions and tRNA point mutations, have been associated with cardiomyopathies. The aim of the study was to determine the prevalence of pathological mtDNA...

The New Apolipoprotein A-I Variant Leu174 → Ser Causes Hereditary Cardiac Amyloidosis, and the Amyloid Fibrils Are Constituted by the 93-Residue N-Terminal Polypeptide

Obici, Laura, Bellotti, Vittorio, Mangione, Palma, Stoppini, Monica, Arbustini, Eloisa, Verga, Laura, ...

We identified a novel missense mutation in the apolipoprotein A-I gene, T2069C Leu174 → Ser, in a patient affected by familial systemic nonneuropathic amyloidosis. The amyloid deposits mostly...

Expression of Tumor Necrosis Factor in Human Acute Cardiac Rejection: An Immunohistochemical and Immunoblotting Study

Arbustini, Eloisa, Grasso, Maurizia, Diegoli, Marta, Bramerio, Manuela, Foglieni, Andrea Scotti, Albertario, Marco, ...

The authors performed an immunohistochemical study on expression of tumor necrosis factor alpha (TNFα) in endomyocardial biopsies from human cardiac allografts. TNFα immunoreactivity was found in...

Coexpression of Aspartic Proteinases and Human Leukocyte Antigen-DR in Human Transplanted Lung

Arbustini, Eloisa, Morbini, Patrizia, Diegoli, Marta, Grasso, Maurizia, Fasani, Roberta, Vitulo, Patrizio, ...

Aspartic proteinases have recently been shown to be implicated in antigen processing. We explored the expression of two aspartic proteinases, cathepsins E and D, and of human leukocyte antigen-DR...