title: [Heart involvement in Anderson-Fabry disease: Italian recommendations for diagnostic, follow-up and therapeutic management].
abstract: Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes alpha-galactosidase A. It is characterized by a multisystemic involvement: the renal, neurological, heart, cochleovestibular and cutaneous systems are the most damaged. Morbidity and mortality of Anderson-Fabry disease depend on renal insufficiency, heart failure and nervous system involvement. Left ventricular hypertrophy is the most common cardiac manifestation followed by conduction system disease, valve dysfunction, and arrhythmias. Mild to moderate left ventricular hypertrophy may simulate a non-obstructive hypertrophic cardiomyopathy. Management of Anderson-Fabry disease starting from the diagnosis of cardiac involvement, the prevention of complications, the therapeutic aspects, up to appropriate clinical follow-up, requires a multidisciplinary approach. According to recent management guidelines, only few evidence-based data are available to guide the clinical and therapeutic approach to this rare disease. An Italian Board, composed by nephrologists, cardiologists, geneticists, pediatricians and neurologists has been established in order to approve by consensus a diagnostic and therapeutic management protocol. The authors report the results of this cardiologic management consensus.
authors.affiliation: Dipartimento di Medicina e Chirurgia, Università degli Studi di Milano Bicocca, Clinica Nefrologica, A.O. San Gerardo, Monza (MB).
authors.forename: Federico
authors.initials: F
authors.lastname: Pieruzzi
authors.affiliation: Dipartimento Cardiovascolare, Ospedale San Donato, Arezzo.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Pieroni
authors.affiliation: U.O.C. Cardiologia 2, Ospedale San Camillo-Forlanini, Roma.
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Zachara
authors.affiliation: Divisione di Cardiologia, Azienda Ospedaliera Universitaria di Parma, Parma, Unità Ricerche Cliniche, IV Divisione di Cardiologia, A.O. Ospedale Niguarda Ca' Granda, Milano, Dipartimento di Scienze del Benessere, Università degli Studi del Molise, Campobasso.
authors.forename: Nicola
authors.initials: N
authors.lastname: Marziliano
authors.affiliation: Laboratorio di Biologia Molecolare e Cellulare, Dipartimento di Neuroscienze, Psicologia, Farmacologia e Salute del Bambino, Università degli Studi di Firenze, Unità di Neurologia Pediatrica, Ospedale Pediatrico Meyer, Firenze.
authors.forename: Amelia
authors.initials: A
authors.lastname: Morrone
authors.affiliation: Dipartimento Medicina Clinica e Sperimentale, Università degli Studi, Firenze.
authors.forename: Franco
authors.initials: F
authors.lastname: Cecchi
mesh_terms: D032921:Consensus; D000795:Fabry Disease / Q000175:diagnosis / Q000503:physiopathology* / Q000628:therapy; D006331:Heart Diseases / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy; D033183:Interdisciplinary Communication; D007558:Italy