Affiliation: University of Pavia
Arbustini E, Di Toro A, Giuliani L, Favalli V, Narula N, Grasso M. Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review. J Am Coll Cardiol. 2018;72:2485-2506 pubmed publisher
Arbustini E, Pasotti M, Pilotto A, Pellegrini C, Grasso M, Previtali S, et al
. Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. Eur J Heart Fail. 2006;8:477-83 pubmed
..CRYAB gene screening was negative. A cardiac phenotype characterized by RCM and AVB caused by desmin accumulation is associated with DES mutations. Although the mutations affected different domains, the cardiac phenotype was identical. ..
Arbustini E, Favalli V, Di Toro A, Giuliani L, Limongelli G. Common presentation of rare diseases: Aortic aneurysms & valves. Int J Cardiol. 2018;257:358-365 pubmed publisher
..In this context, conditions such as BAV and related aortopathy are easy to diagnose because BAV is present at birth while aortopathy usually develops during the life course. ..
Fancellu L, Borsini W, Romani I, Pirisi A, Deiana G, Sechi E, et al
. Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia. BMC Neurol. 2015;15:256 pubmed publisher
..All types of cerebrovascular disorders should be screened for FD, including patients with white matter lesions possibly related to cerebral vasculopathy at brain MRI. ..
Favalli V, Disabella E, Molinaro M, Tagliani M, Scarabotto A, Serio A, et al
. Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics. J Am Coll Cardiol. 2016;68:1037-50 pubmed publisher
..Screening probands with clinically suspected AFD significantly increased diagnostic yield. The heart was the organ most commonly involved, independent of the clinical setting in which the patient was first evaluated. ..
Arbustini E, Favalli V, Narula N, Serio A, Grasso M. Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?. J Am Coll Cardiol. 2016;68:949-66 pubmed publisher
Arbustini E, Grasso M, Ansaldi S, Malattia C, Pilotto A, Porcu E, et al
. Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. Hum Mutat. 2005;26:494 pubmed
..5%). Most mutations (67.9%) occurred in cbEGF-like modules. Genotype was clinically relevant for early diagnosis and conclusion of the diagnostic work-up in patients with incomplete or atypical phenotypes. ..
Disabella E, Grasso M, Gambarin F, Narula N, Dore R, Favalli V, et al
. Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). Heart. 2011;97:321-6 pubmed publisher
..Timely diagnosis of TAAD in the probands, genetic counselling and family screening identify predisposed relatives and prevent catastrophic aortic dissections. ..