Elena Biagini, Giuseppe Limongelli, Vanda Parisi, Francesco Cappelli, Francesca Graziani, Emanuele Monda, Iacopo Olivotto, Maurizio Pieroni, Marta Rubino, Raffaello Ditaranto, Serena Serratore, Maria Alessandra Schiavo, Gianfranco Sinagra, Ciro Indolfi, Pasquale Perrone Filardi
{"title":"[意大利法布里病心血管登记处的技术现状和项目]。","authors":"Elena Biagini, Giuseppe Limongelli, Vanda Parisi, Francesco Cappelli, Francesca Graziani, Emanuele Monda, Iacopo Olivotto, Maurizio Pieroni, Marta Rubino, Raffaello Ditaranto, Serena Serratore, Maria Alessandra Schiavo, Gianfranco Sinagra, Ciro Indolfi, Pasquale Perrone Filardi","doi":"10.1714/4542.45431","DOIUrl":null,"url":null,"abstract":"<p><p>Anderson-Fabry disease is a panethnic, rare disease caused by α-galactosidase A deficiency, with subsequent systemic intracellular accumulation of glycosphingolipids. Confined as a nephrological disease for many decades, the widespread use of multimodality imaging techniques over the last 20 years (like cardiac magnetic resonance) has allowed to highlight the frequent and heterogeneous cardiovascular involvement, with important impact on therapeutic strategies and prognosis. However, many grey zones and knowledge gaps remain, both in diagnostic and management approaches. Recently, the Italian Society of Cardiology has promoted the constitution of the Italian Fabry Disease Cardiovascular Registry, aiming to expand our understanding of the disease focusing on cardiovascular manifestations and complications, to improve quality of care and outcomes of these patients.</p>","PeriodicalId":12510,"journal":{"name":"Giornale italiano di cardiologia","volume":"26 9","pages":"666-676"},"PeriodicalIF":0.7000,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[State of the art and projects of the Italian Fabry Disease Cardiovascular Registry].\",\"authors\":\"Elena Biagini, Giuseppe Limongelli, Vanda Parisi, Francesco Cappelli, Francesca Graziani, Emanuele Monda, Iacopo Olivotto, Maurizio Pieroni, Marta Rubino, Raffaello Ditaranto, Serena Serratore, Maria Alessandra Schiavo, Gianfranco Sinagra, Ciro Indolfi, Pasquale Perrone Filardi\",\"doi\":\"10.1714/4542.45431\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Anderson-Fabry disease is a panethnic, rare disease caused by α-galactosidase A deficiency, with subsequent systemic intracellular accumulation of glycosphingolipids. Confined as a nephrological disease for many decades, the widespread use of multimodality imaging techniques over the last 20 years (like cardiac magnetic resonance) has allowed to highlight the frequent and heterogeneous cardiovascular involvement, with important impact on therapeutic strategies and prognosis. However, many grey zones and knowledge gaps remain, both in diagnostic and management approaches. Recently, the Italian Society of Cardiology has promoted the constitution of the Italian Fabry Disease Cardiovascular Registry, aiming to expand our understanding of the disease focusing on cardiovascular manifestations and complications, to improve quality of care and outcomes of these patients.</p>\",\"PeriodicalId\":12510,\"journal\":{\"name\":\"Giornale italiano di cardiologia\",\"volume\":\"26 9\",\"pages\":\"666-676\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2025-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Giornale italiano di cardiologia\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1714/4542.45431\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Giornale italiano di cardiologia","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1714/4542.45431","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
[State of the art and projects of the Italian Fabry Disease Cardiovascular Registry].
Anderson-Fabry disease is a panethnic, rare disease caused by α-galactosidase A deficiency, with subsequent systemic intracellular accumulation of glycosphingolipids. Confined as a nephrological disease for many decades, the widespread use of multimodality imaging techniques over the last 20 years (like cardiac magnetic resonance) has allowed to highlight the frequent and heterogeneous cardiovascular involvement, with important impact on therapeutic strategies and prognosis. However, many grey zones and knowledge gaps remain, both in diagnostic and management approaches. Recently, the Italian Society of Cardiology has promoted the constitution of the Italian Fabry Disease Cardiovascular Registry, aiming to expand our understanding of the disease focusing on cardiovascular manifestations and complications, to improve quality of care and outcomes of these patients.