Pieroni M, Moon JC, Arbustini E, Barriales-Villa R, Camporeale A, Vujkovac AC et al (2021) Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week. J Am Coll Cardiol 77(7):922–936

Article  CAS  PubMed  Google Scholar 

Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A et al (2018) Fabry disease revisited: Management and treatment recommendations for adult patients. Mol Genet Metab 123(4):416–27

Article  CAS  PubMed  Google Scholar 

Baig S, Edward NC, Kotecha D, Liu B, Nordin S, Kozor R et al (2018) Ventricular arrhythmia and sudden cardiac death in Fabry disease: a systematic review of risk factors in clinical practice. Europace 20(Fi2):f153–f61

Article  PubMed  Google Scholar 

Acharya D, Robertson P, Kay GN, Jackson L, Warnock DG, Plumb VJ et al (2012) Arrhythmias in Fabry cardiomyopathy. Clin Cardiol 35(12):738–740

Article  PubMed  PubMed Central  Google Scholar 

Weissman D, Dudek J, Sequeira V, Maack C (2024) Fabry Disease: Cardiac Implications and Molecular Mechanisms. Curr Heart Fail Rep 21(2):81–100

Article  PubMed  PubMed Central  Google Scholar 

Linhart A, Germain DP, Olivotto I, Akhtar MM, Anastasakis A, Hughes D et al (2020) An expert consensus document on the management of cardiovascular manifestations of Fabry disease. Eur J Heart Fail 22(7):1076–1096

Article  PubMed  Google Scholar 

Germain DP, Altarescu G, Barriales-Villa R, Mignani R, Pawlaczyk K, Pieruzzi F et al (2022) An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease. Mol Genet Metab 137(1–2):49–61

Article  CAS  PubMed  Google Scholar 

Steinberg JS, Varma N, Cygankiewicz I, Aziz P, Balsam P, Baranchuk A et al (2017) 2017 ISHNE-HRS expert consensus statement on ambulatory ECG and external cardiac monitoring/telemetry. Heart Rhythm 14(7):e55–e96

Article  PubMed  Google Scholar 

Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U et al (2008) Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab 93(2):112–128

Article  CAS  PubMed  Google Scholar 

Niemann M, Herrmann S, Hu K, Breunig F, Strotmann J, Beer M et al (2011) Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment. JACC Cardiovasc Imaging 4(6):592–601

Article  PubMed  Google Scholar 

Lyon MF (1961) Gene action in the X-chromosome of the mouse (Mus musculus L). Nature 190:372–373

Article  CAS  PubMed  Google Scholar 

Kampmann C, Baehner F, Whybra C, Martin C, Wiethoff CM, Ries M et al (2002) Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol 40(9):1668–1674

Article  PubMed  Google Scholar 

Moon JC, Sachdev B, Elkington AG, McKenna WJ, Mehta A, Pennell DJ et al (2003) Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J 24(23):2151–2155

Article  PubMed  Google Scholar 

Frustaci A, Morgante E, Russo MA, Scopelliti F, Grande C, Verardo R et al (2015) Pathology and function of conduction tissue in Fabry disease cardiomyopathy. Circ Arrhythm Electrophysiol 8(4):799–805

Article  CAS  PubMed  Google Scholar 

Deva DP, Hanneman K, Li Q, Ng MY, Wasim S, Morel C et al (2016) Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease. J Cardiovasc Magn Reson 18:14

Article  PubMed  PubMed Central  Google Scholar 

Krämer J, Niemann M, Störk S, Frantz S, Beer M, Ertl G et al (2014) Relation of burden of myocardial fibrosis to malignant ventricular arrhythmias and outcomes in Fabry disease. Am J Cardiol 114(6):895–900

Article  PubMed  Google Scholar 

Takenaka T, Teraguchi H, Yoshida A, Taguchi S, Ninomiya K, Umekita Y et al (2008) Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study. J Cardiol 51(1):50–59

Article  PubMed  Google Scholar 

Iles L, Pfluger H, Lefkovits L, Butler MJ, Kistler PM, Kaye DM et al (2011) Myocardial fibrosis predicts appropriate device therapy in patients with implantable cardioverter-defibrillators for primary prevention of sudden cardiac death. J Am Coll Cardiol 57(7):821–828

Article  PubMed  Google Scholar 

Weidemann F, Maier SK, Störk S, Brunner T, Liu D, Hu K et al (2016) Usefulness of an Implantable Loop Recorder to Detect Clinically Relevant Arrhythmias in Patients With Advanced Fabry Cardiomyopathy. Am J Cardiol 118(2):264–274

Article  PubMed  Google Scholar 

Hiestand R, Nowak A, Sokolska JM, Chan R, Ruschitzka F, Manka R et al (2023) Clinical and CMR characteristics associated with cardiac events in patients with Fabry disease. Int J Cardiol 382:46–51

Article  PubMed  Google Scholar 

Battaglia Y, Bulighin F, Zerbinati L, Vitturi N, Marchi G, Carraro G (2023) Dapaglifozin on Albuminuria in Chronic Kidney Disease Patients with FabrY Disease: The DEFY Study Design and Protocol. J Clin Med 12(11)

Shah JS, Hughes DA, Sachdev B, Tome M, Ward D, Lee P et al (2005) Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol 96(6):842–846

Article  PubMed  Google Scholar 

Weidemann F, Niemann M, Störk S, Breunig F, Beer M, Sommer C et al (2013) Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications. J Intern Med 274(4):331–41

Article  CAS  PubMed  PubMed Central  Google Scholar 

Piccolo S, Casal M, Rossi V, Ferrigni F, Piccoli A, Bolzan B et al (2025) Ventricular arrhythmias and primary prevention of sudden cardiac death in Anderson-Fabry disease. Int J Cardiol 415:132444

Article  Google Scholar 

Higashi H, Yamagata K, Noda T, Satomi K (2011) Endocardial and epicardial substrates of ventricular tachycardia in a patient with Fabry disease. Heart Rhythm 8(1):133–136

Article  PubMed  Google Scholar 

Patel V, O’Mahony C, Hughes D, Rahman MS, Coats C, Murphy E et al (2015) Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry Disease. Heart 101(12):961–966

Article  PubMed  Google Scholar 

Roy A, Cumberland MJ, O’Shea C, Holmes A, Kalla M, Gehmlich K et al (2024) Arrhythmogenesis in Fabry Disease. Curr Cardiol Rep 26(6):545–560

Article  PubMed  PubMed Central  Google Scholar 

Vijapurapu R, Geberhiwot T, Jovanovic A, Baig S, Nordin S, Kozor R et al (2019) Study of indications for cardiac device implantation and utilisation in Fabry cardiomyopathy. Heart 105(23):1825–31

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sené T, Lidove O, Sebbah J, Darondel JM, Picard H, Aaron L et al (2016) Cardiac device implantation in Fabry disease: A retrospective monocentric study. Med (Baltim) 95(40):e4996

Article  Google Scholar 

O’Mahony C, Coats C, Cardona M, Garcia A, Calcagnino M, Murphy E et al (2011) Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease. Europace 13(12):1781–1788

Article  PubMed  Google Scholar 

Pichette M, Serri K, Pagé M, Di LZ, Bichet DG, Poulin F (2017) Impaired left atrial function in Fabry disease: a longitudinal speckle-tracking echocardiography study. J Am Soc Echocardiogr 30(2):170–9.e2

Article  PubMed  Google Scholar 

Meucci MC, Lillo R, Del Franco A, Monda E, Iannaccone G, Baldassarre R et al (2023) Prognostic implications of the extent of cardiac damage in patients with Fabry disease. J Am Coll Cardiol 82(15):1524–34

Article  PubMed  Google Scholar 

Tassetti L, Fumagalli C, Argirò A, Zampieri M, Gori M, Verrillo F et al (2022) Prevalence and predictors of bradyarrhythmias requiring permanent pacing in patients with Anderson-Fabry disease. J Cardiovasc Electrophysiol 33(5):1072–8

Article  PubMed  Google Scholar 

Seydelmann N, Liu D, Krämer J, Drechsler C, Hu K, Nordbeck P et al (2016) High-Sensitivity Troponin: A Clinical Blood Biomarker for Staging Cardiomyopathy in Fabry Disease. J Am Heart Assoc 5(6)

Coa