{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T02:00:06Z","timestamp":1780711206199,"version":"3.54.1"},"reference-count":100,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","onlinecjc.ca","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Canadian Journal of Cardiology"],"published-print":{"date-parts":[[2024,5]]},"DOI":"10.1016\/j.cjca.2024.02.025","type":"journal-article","created":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T16:30:13Z","timestamp":1709569813000},"page":"754-765","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["The Diagnostic and Therapeutic Implications of Phenocopies and Mimics of Hypertrophic Cardiomyopathy"],"prefix":"10.1016","volume":"40","author":[{"given":"Athanasios","family":"Bakalakos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele","family":"Monda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perry Mark","family":"Elliott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.cjca.2024.02.025_bib1","doi-asserted-by":"crossref","first-page":"3503","DOI":"10.1093\/eurheartj\/ehad194","article-title":"2023 ESC guidelines for the management of cardiomyopathies","volume":"44","author":"Arbelo","year":"2023","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2024.02.025_bib2","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1161\/CIRCRESAHA.121.318346","article-title":"Molecular genetic basis of hypertrophic cardiomyopathy","volume":"128","author":"Marian","year":"2021","journal-title":"Circ Res"},{"key":"10.1016\/j.cjca.2024.02.025_bib3","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.jacc.2020.08.045","article-title":"2020 AHA\/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy","volume":"76","author":"Ommen","year":"2020","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib4","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1038\/s41569-020-0428-2","article-title":"Epidemiology of the inherited cardiomyopathies","volume":"18","author":"McKenna","year":"2021","journal-title":"Nat Rev Cardiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib5","article-title":"Prevalence of unexplained left ventricular hypertrophy by cardiac magnetic resonance imaging in MESA","volume":"8","author":"Massera","year":"2019","journal-title":"J\u00a0Am Heart Assoc"},{"key":"10.1016\/j.cjca.2024.02.025_bib6","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1001\/jamacardio.2021.0689","article-title":"Prevalence of hypertrophic cardiomyopathy in the UK Biobank population","volume":"6","author":"Lopes","year":"2021","journal-title":"JAMA Cardiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib7","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0191214","article-title":"Identifying unmet clinical need in hypertrophic cardiomyopathy using national electronic health records","volume":"13","author":"Pujades-Rodriguez","year":"2018","journal-title":"PLoS One"},{"key":"10.1016\/j.cjca.2024.02.025_bib8","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1136\/heartjnl-2021-320181","article-title":"Epidemiology of cardiomyopathies and incident heart failure in a population-based cohort study","volume":"108","author":"Brownrigg","year":"2022","journal-title":"Heart"},{"key":"10.1016\/j.cjca.2024.02.025_bib9","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/j.ajhg.2012.07.017","article-title":"Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts","volume":"91","author":"Bick","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cjca.2024.02.025_bib10","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1016\/j.jacc.2021.07.017","article-title":"Phenotypic expression and outcomes in individuals with rare genetic variants of hypertrophic cardiomyopathy","volume":"78","author":"de Marvao","year":"2021","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib11","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.122.003704","article-title":"Prevalence and disease expression of pathogenic and likely pathogenic variants associated with inherited cardiomyopathies in the general population","volume":"15","author":"Bourfiss","year":"2022","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.cjca.2024.02.025_bib12","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1016\/j.jchf.2023.07.023","article-title":"Predicted deleterious variants in cardiomyopathy genes prognosticate mortality and composite outcomes in the UK Biobank","volume":"12","author":"Asatryan","year":"2024","journal-title":"JACC Heart Fail"},{"key":"10.1016\/j.cjca.2024.02.025_bib13","article-title":"Impact of GLA variant classification on the estimated prevalence of Fabry disease: a systematic review and meta-analysis of screening studies","volume":"16","author":"Monda","year":"2023","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.cjca.2024.02.025_bib14","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/j.ijcard.2019.07.051","article-title":"Prevalence of cardiac amyloidosis among adult patients referred to tertiary centres with an initial diagnosis of hypertrophic cardiomyopathy","volume":"300","author":"Maurizi","year":"2020","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib15","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1093\/eurheartj\/ehv583","article-title":"Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness","volume":"37","author":"Damy","year":"2016","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2024.02.025_bib16","doi-asserted-by":"crossref","first-page":"2342","DOI":"10.1002\/ejhf.2532","article-title":"Redefining the epidemiology of cardiac amyloidosis. A systematic review and meta-analysis of screening studies","volume":"24","author":"Aimo","year":"2022","journal-title":"Eur J Heart Fail"},{"key":"10.1016\/j.cjca.2024.02.025_bib17","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1093\/eurheartj\/ehy798","article-title":"Clinical presentation and survival of childhood hypertrophic cardiomyopathy: a retrospective study in United Kingdom","volume":"40","author":"Norrish","year":"2019","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2024.02.025_bib18","doi-asserted-by":"crossref","first-page":"5057","DOI":"10.1002\/ehf2.13573","article-title":"Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study","volume":"8","author":"Norrish","year":"2021","journal-title":"ESC Heart Fail"},{"key":"10.1016\/j.cjca.2024.02.025_bib19","doi-asserted-by":"crossref","first-page":"1988","DOI":"10.1093\/eurheartj\/ehab148","article-title":"Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy","volume":"42","author":"Marston","year":"2021","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2024.02.025_bib20","doi-asserted-by":"crossref","first-page":"1448","DOI":"10.1093\/eurheartj\/ehs397","article-title":"Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases","volume":"34","author":"Rapezzi","year":"2013","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2024.02.025_bib21","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.ijcard.2019.06.073","article-title":"Prevalence and clinical significance of red flags in patients with hypertrophic cardiomyopathy","volume":"299","author":"Limongelli","year":"2020","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib22","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCHEARTFAILURE.123.010687","article-title":"Targeted therapies in pediatric and adult patients with hypertrophic heart disease: from molecular pathophysiology to personalized medicine","volume":"16","author":"Monda","year":"2023","journal-title":"Circ Heart Fail"},{"key":"10.1016\/j.cjca.2024.02.025_bib23","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1002\/ajmg.c.32015","article-title":"Clinical overview on RASopathies","volume":"190","author":"Zenker","year":"2022","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.cjca.2024.02.025_bib24","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1002\/ajmg.c.32012","article-title":"The molecular genetics of RASopathies: an update on novel disease genes and new disorders","volume":"190","author":"Tartaglia","year":"2022","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.cjca.2024.02.025_bib25","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1161\/CIRCGEN.122.003861","article-title":"Natural history of hypertrophic cardiomyopathy in Noonan syndrome with multiple lentigines","volume":"16","author":"Monda","year":"2023","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.cjca.2024.02.025_bib26","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.hfc.2021.07.004","article-title":"Hypertrophic cardiomyopathy in RASopathies","volume":"18","author":"Lioncino","year":"2022","journal-title":"Heart Fail Clin"},{"key":"10.1016\/j.cjca.2024.02.025_bib27","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1002\/ajmg.c.32014","article-title":"The heart in RASopathies","volume":"190","author":"Delogu","year":"2022","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.cjca.2024.02.025_bib28","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1172\/JCI46399","article-title":"RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it","volume":"121","author":"Gelb","year":"2011","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.cjca.2024.02.025_bib29","doi-asserted-by":"crossref","first-page":"2237","DOI":"10.1016\/j.jacc.2019.01.066","article-title":"Hypertrophic cardiomyopathy in Noonan syndrome treated by MEK-Inhibition","volume":"73","author":"Andelfinger","year":"2019","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib30","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1172\/JCI44972","article-title":"Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome\u2013associated PTPN11 mutation","volume":"121","author":"Marin","year":"2011","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.cjca.2024.02.025_bib31","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1038\/s41572-023-00456-z","article-title":"Glycogen storage diseases","volume":"9","author":"Hannah","year":"2023","journal-title":"Nat Rev Dis Primers"},{"key":"10.1016\/j.cjca.2024.02.025_bib32","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000009186","article-title":"Infantile-onset Pompe disease with neonatal debut: a case report and literature review","volume":"96","author":"Mart\u00ednez","year":"2017","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.cjca.2024.02.025_bib33","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1097\/01.gim.0000218152.87434.f3","article-title":"Pompe disease diagnosis and management guideline","volume":"8","author":"Kishnani","year":"2006","journal-title":"Genet Med"},{"key":"10.1016\/j.cjca.2024.02.025_bib34","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1016\/j.jacc.2023.08.014","article-title":"International consensus on differential diagnosis and management of patients with Danon disease","volume":"82","author":"Hong","year":"2023","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib35","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1097\/GIM.0b013e3181e655b6","article-title":"Glycogen storage disease type III diagnosis and management guidelines","volume":"12","author":"Kishnani","year":"2010","journal-title":"Genet Med"},{"key":"10.1016\/j.cjca.2024.02.025_bib36","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCEP.115.003121","article-title":"Clinical spectrum of PRKAG2 syndrome","volume":"9","author":"Porto","year":"2016","journal-title":"Circ Arrhythm Electrophysiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib37","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.ijcard.2022.03.050","article-title":"Diagnosis and management of rare cardiomyopathies in adult and paediatric patients. A position paper of the Italian Society of Cardiology (SIC) and Italian Society of Paediatric Cardiology (SICP)","volume":"357","author":"Limongelli","year":"2022","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib38","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1056\/NEJMoa033349","article-title":"Glycogen storage diseases presenting as hypertrophic cardiomyopathy","volume":"352","author":"Arad","year":"2005","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.cjca.2024.02.025_bib39","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.nmd.2004.10.009","article-title":"Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial","volume":"15","author":"Klinge","year":"2005","journal-title":"Neuromusc Disord"},{"key":"10.1016\/j.cjca.2024.02.025_bib40","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.37.1.1","article-title":"Friedreich ataxia: an overview","volume":"37","author":"Delatycki","year":"2000","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.cjca.2024.02.025_bib41","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1136\/jmg.2008.058594","article-title":"DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients","volume":"45","author":"Castaldo","year":"2008","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.cjca.2024.02.025_bib42","doi-asserted-by":"crossref","first-page":"1709","DOI":"10.1126\/science.276.5319.1709","article-title":"Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin","volume":"276","author":"Babcock","year":"1997","journal-title":"Science"},{"key":"10.1016\/j.cjca.2024.02.025_bib43","doi-asserted-by":"crossref","first-page":"7853","DOI":"10.3390\/ijms14047853","article-title":"Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons","volume":"14","author":"D\u2019Oria","year":"2013","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.cjca.2024.02.025_bib44","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.hfc.2021.07.001","article-title":"Diagnosis and management of cardiovascular involvement in Friedreich ataxia","volume":"18","author":"Monda","year":"2022","journal-title":"Heart Fail Clin"},{"key":"10.1016\/j.cjca.2024.02.025_bib45","doi-asserted-by":"crossref","first-page":"1820","DOI":"10.1016\/j.amjcard.2012.08.018","article-title":"Relation of cytosolic iron excess to cardiomyopathy of Friedreich\u2019s ataxia","volume":"110","author":"Ramirez","year":"2012","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib46","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1136\/archdischild-2021-322455","article-title":"Friedreich\u2019s ataxia-associated childhood hypertrophic cardiomyopathy: a national cohort study","volume":"107","author":"Norrish","year":"2022","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.cjca.2024.02.025_bib47","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1002\/ana.25934","article-title":"Safety and efficacy of omaveloxolone in Friedreich ataxia (MOXIe Study)","volume":"89","author":"Lynch","year":"2021","journal-title":"Ann Neurol"},{"key":"10.1016\/j.cjca.2024.02.025_bib48","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1056\/NEJMra022567","article-title":"Mitochondrial respiratory-chain diseases","volume":"348","author":"DiMauro","year":"2003","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.cjca.2024.02.025_bib49","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1007\/s000180050327","article-title":"Genetics and molecular pathogenesis of mitochondrial respiratory chain diseases","volume":"55","author":"Hanna","year":"1999","journal-title":"Cell Mol Life Sci"},{"key":"10.1016\/j.cjca.2024.02.025_bib50","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1016\/j.jacc.2022.08.716","article-title":"Cardiac outcomes in adults with mitochondrial diseases","volume":"80","author":"Savvatis","year":"2022","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib51","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1093\/eurjhf\/hfp186","article-title":"Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease","volume":"12","author":"Limongelli","year":"2010","journal-title":"Eur J Heart Fail"},{"key":"10.1016\/j.cjca.2024.02.025_bib52","doi-asserted-by":"crossref","first-page":"2886","DOI":"10.1093\/eurheartj\/ehv307","article-title":"Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases","volume":"36","author":"Wahbi","year":"2015","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2024.02.025_bib53","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1038\/gim.2014.177","article-title":"Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society","volume":"17","author":"Parikh","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.cjca.2024.02.025_bib54","doi-asserted-by":"crossref","DOI":"10.1002\/14651858.CD004426.pub3","article-title":"Treatment for mitochondrial disorders","author":"Pfeffer","year":"2012","journal-title":"Cochrane Database Syst Rev"},{"key":"10.1016\/j.cjca.2024.02.025_bib55","doi-asserted-by":"crossref","DOI":"10.15252\/embr.201949612","article-title":"Mitochondrial DNA heteroplasmy in disease and targeted nuclease-based therapeutic approaches","volume":"21","author":"Nissanka","year":"2020","journal-title":"EMBO Rep"},{"key":"10.1016\/j.cjca.2024.02.025_bib56","first-page":"1380","article-title":"Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society","volume":"19","author":"Parikh","year":"2017","journal-title":"Genet Med"},{"key":"10.1016\/j.cjca.2024.02.025_bib57","doi-asserted-by":"crossref","first-page":"3427","DOI":"10.1093\/eurheartj\/ehab364","article-title":"2021 ESC guidelines on cardiac pacing and cardiac resynchronization therapy","volume":"42","author":"Glikson","year":"2021","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2024.02.025_bib58","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.cjca.2024.02.025_bib59","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.ymgme.2018.02.014","article-title":"Fabry disease revisited: management and treatment recommendations for adult patients","volume":"123","author":"Ortiz","year":"2018","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.cjca.2024.02.025_bib60","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1003632","article-title":"Functional characterisation of alpha-galactosidase A mutations as a basis for a new classification system in Fabry disease","volume":"9","author":"Lukas","year":"2013","journal-title":"PLoS Genet"},{"key":"10.1016\/j.cjca.2024.02.025_bib61","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1111\/cge.12613","article-title":"X-chromosome inactivation in female patients with Fabry disease","volume":"89","author":"Echevarria","year":"2016","journal-title":"Clin Genet"},{"key":"10.1016\/j.cjca.2024.02.025_bib62","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.hfc.2021.07.005","article-title":"Diagnosis and management of cardiovascular involvement in Fabry disease","volume":"18","author":"Rubino","year":"2022","journal-title":"Heart Fail Clin"},{"key":"10.1016\/j.cjca.2024.02.025_bib63","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1002\/ejhf.1960","article-title":"An expert consensus document on the management of cardiovascular manifestations of Fabry disease","volume":"22","author":"Linhart","year":"2020","journal-title":"Eur J Heart Fail"},{"key":"10.1016\/j.cjca.2024.02.025_bib64","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1136\/hrt.2005.063818","article-title":"The heart in Anderson-Fabry disease and other lysosomal storage disorders","volume":"93","author":"Linhart","year":"2007","journal-title":"Heart"},{"key":"10.1016\/j.cjca.2024.02.025_bib65","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1067\/mhj.2000.105105","article-title":"New insights in cardiac structural changes in patients with Fabry\u2019s disease","volume":"139","author":"Linhart","year":"2000","journal-title":"Am Heart J"},{"key":"10.1016\/j.cjca.2024.02.025_bib66","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/s12968-016-0233-6","article-title":"Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease","volume":"18","author":"Deva","year":"2016","journal-title":"J\u00a0Cardiovasc Magn Reson"},{"key":"10.1016\/j.cjca.2024.02.025_bib67","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1016\/j.jcmg.2018.11.039","article-title":"The role of cardiac imaging in the diagnosis and management of Anderson-Fabry disease","volume":"12","author":"Perry","year":"2019","journal-title":"JACC Cardiovasc Imaging"},{"key":"10.1016\/j.cjca.2024.02.025_bib68","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1016\/j.ehj.2003.09.017","article-title":"Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium","volume":"24","author":"Moon","year":"2003","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2024.02.025_bib69","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1093\/eurheartj\/ehm153","article-title":"Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey","volume":"28","author":"Linhart","year":"2007","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2024.02.025_bib70","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1136\/hrt.2004.054015","article-title":"Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with \u03b1 galactosidase A","volume":"92","author":"Elliott","year":"2006","journal-title":"Heart"},{"key":"10.1016\/j.cjca.2024.02.025_bib71","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1136\/heartjnl-2014-306782","article-title":"Clinical and genetic predictors of major cardiac events in patients with Anderson\u2013Fabry Disease","volume":"101","author":"Patel","year":"2015","journal-title":"Heart"},{"key":"10.1016\/j.cjca.2024.02.025_bib72","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1002\/mgg3.389","article-title":"Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: a multicenter Fabry Registry study","volume":"6","author":"Germain","year":"2018","journal-title":"Mol Genet Genom Med"},{"key":"10.1016\/j.cjca.2024.02.025_bib73","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.ymgmr.2015.02.002","article-title":"Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: a Fabry Outcome Survey analysis","volume":"3","author":"Beck","year":"2015","journal-title":"Mol Genet Metabol Rep"},{"key":"10.1016\/j.cjca.2024.02.025_bib74","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1186\/s13023-015-0338-2","article-title":"Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years\u2019 treatment","volume":"10","author":"Kampmann","year":"2015","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.cjca.2024.02.025_bib75","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1056\/NEJMoa1510198","article-title":"Treatment of Fabry\u2019s disease with the pharmacologic chaperone migalastat","volume":"375","author":"Germain","year":"2016","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.cjca.2024.02.025_bib76","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1136\/jmedgenet-2016-104178","article-title":"Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study","volume":"54","author":"Hughes","year":"2017","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.cjca.2024.02.025_bib77","doi-asserted-by":"crossref","first-page":"2872","DOI":"10.1016\/j.jacc.2019.04.003","article-title":"Transthyretin amyloid cardiomyopathy","volume":"73","author":"Ruberg","year":"2019","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib78","doi-asserted-by":"crossref","first-page":"1554","DOI":"10.1093\/eurheartj\/ehab072","article-title":"Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases","volume":"42","author":"Garcia-Pavia","year":"2021","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2024.02.025_bib79","doi-asserted-by":"crossref","first-page":"1817","DOI":"10.1182\/blood.V79.7.1817.1817","article-title":"Incidence and natural history of primary systemic amyloidosis in Olmsted County, Minnesota, 1950 through 1989 [see comments]","volume":"79","author":"Kyle","year":"1992","journal-title":"Blood"},{"key":"10.1016\/j.cjca.2024.02.025_bib80","first-page":"5577","article-title":"Incidence and prevalence of light chain amyloidosis: a population-based study","volume":"130","author":"Duhamel","year":"2017","journal-title":"Blood"},{"key":"10.1016\/j.cjca.2024.02.025_bib81","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1186\/1471-2458-12-974","article-title":"Incidence and survival in non-hereditary amyloidosis in Sweden","volume":"12","author":"Hemminki","year":"2012","journal-title":"BMC Public Health"},{"key":"10.1016\/j.cjca.2024.02.025_bib82","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1182\/bloodadvances.2018016402","article-title":"Epidemiology of AL amyloidosis: a real-world study using US claims data","volume":"2","author":"Quock","year":"2018","journal-title":"Blood Adv"},{"key":"10.1016\/j.cjca.2024.02.025_bib83","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1056\/NEJMoa1709974","article-title":"Long-term follow-up of monoclonal gammopathy of undetermined significance","volume":"378","author":"Kyle","year":"2018","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.cjca.2024.02.025_bib84","doi-asserted-by":"crossref","first-page":"19813","DOI":"10.1074\/jbc.M116.736736","article-title":"Cell damage in light chain amyloidosis","volume":"291","author":"Marin-Argany","year":"2016","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.cjca.2024.02.025_bib85","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1080\/13506129.2018.1436048","article-title":"Monoclonal gammopathy of undetermined significance in systemic transthyretin amyloidosis (ATTR)","volume":"25","author":"Phull","year":"2018","journal-title":"Amyloid"},{"key":"10.1016\/j.cjca.2024.02.025_bib86","doi-asserted-by":"crossref","first-page":"1724","DOI":"10.1016\/j.jacc.2006.01.042","article-title":"Transthyretin V122I in African Americans with congestive heart failure","volume":"47","author":"Buxbaum","year":"2006","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib87","doi-asserted-by":"crossref","first-page":"160","DOI":"10.3109\/13506120308998998","article-title":"Tabulation of human transthyretin (TTR) variants, 2003","volume":"10","author":"Connors","year":"2003","journal-title":"Amyloid"},{"key":"10.1016\/j.cjca.2024.02.025_bib88","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.121.003356","article-title":"Prevalence and outcomes of p.Val142Ile TTR amyloidosis cardiomyopathy: a systematic review","volume":"14","author":"Chandrashekar","year":"2021","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.cjca.2024.02.025_bib89","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.jacc.2016.03.596","article-title":"Genotype and phenotype of transthyretin cardiac amyloidosis","volume":"68","author":"Maurer","year":"2016","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib90","doi-asserted-by":"crossref","first-page":"1895","DOI":"10.1093\/eurheartj\/ehx043","article-title":"Clinical characteristics of wild-type transthyretin cardiac amyloidosis: disproving myths","volume":"38","author":"Gonz\u00e1lez-L\u00f3pez","year":"2017","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjca.2024.02.025_bib91","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1016\/j.jchf.2019.04.010","article-title":"Screening for transthyretin amyloid cardiomyopathy in everyday practice","volume":"7","author":"Witteles","year":"2019","journal-title":"JACC Heart Fail"},{"key":"10.1016\/j.cjca.2024.02.025_bib92","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1016\/j.jacc.2016.06.033","article-title":"Natural history of wild-type transthyretin cardiac amyloidosis and risk stratification using a novel staging system","volume":"68","author":"Grogan","year":"2016","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib93","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1161\/CIRCULATIONAHA.108.843334","article-title":"Systemic cardiac amyloidoses","volume":"120","author":"Rapezzi","year":"2009","journal-title":"Circulation"},{"key":"10.1016\/j.cjca.2024.02.025_bib94","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1016\/j.jacep.2020.04.019","article-title":"Atrial fibrillation in transthyretin cardiac amyloidosis","volume":"6","author":"Donnellan","year":"2020","journal-title":"JACC Clin Electrophysiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib95","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/j.jaccao.2021.07.010","article-title":"Electrophysiological manifestations of cardiac amyloidosis: JACC: CardioOncology state-of-the-art review","volume":"3","author":"Hartnett","year":"2021","journal-title":"JACC CardioOncol"},{"key":"10.1016\/j.cjca.2024.02.025_bib96","doi-asserted-by":"crossref","first-page":"2404","DOI":"10.1161\/CIRCULATIONAHA.116.021612","article-title":"Nonbiopsy diagnosis of cardiac transthyretin amyloidosis","volume":"133","author":"Gillmore","year":"2016","journal-title":"Circulation"},{"key":"10.1016\/j.cjca.2024.02.025_bib97","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/j.cjca.2019.12.034","article-title":"Canadian Cardiovascular Society\/Canadian Heart Failure Society joint position statement on the evaluation and management of patients with cardiac amyloidosis","volume":"36","author":"Fine","year":"2020","journal-title":"Can J Cardiol"},{"key":"10.1016\/j.cjca.2024.02.025_bib98","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1056\/NEJMoa1805689","article-title":"Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy","volume":"379","author":"Maurer","year":"2018","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.cjca.2024.02.025_bib99","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1056\/NEJMoa2107454","article-title":"CRISPR-Cas9 in\u00a0vivo gene editing for transthyretin amyloidosis","volume":"385","author":"Gillmore","year":"2021","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.cjca.2024.02.025_bib100","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1056\/NEJMoa2303765","article-title":"Phase 1 trial of antibody NI006 for depletion of cardiac transthyretin amyloid","volume":"389","author":"Garcia-Pavia","year":"2023","journal-title":"N\u00a0Engl J Med"}],"container-title":["Canadian Journal of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0828282X24001909?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0828282X24001909?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T19:53:44Z","timestamp":1731527624000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0828282X24001909"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":100,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["S0828282X24001909"],"URL":"https:\/\/doi.org\/10.1016\/j.cjca.2024.02.025","relation":{},"ISSN":["0828-282X"],"issn-type":[{"value":"0828-282X","type":"print"}],"subject":[],"published":{"date-parts":[[2024,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The Diagnostic and Therapeutic Implications of Phenocopies and Mimics of Hypertrophic Cardiomyopathy","name":"articletitle","label":"Article Title"},{"value":"Canadian Journal of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cjca.2024.02.025","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Inc. on behalf of the Canadian Cardiovascular Society.","name":"copyright","label":"Copyright"}]}}