Clinical staging of Anderson-Fabry cardiomyopathy: An operative proposal

Weidemann F, Breunig F, Beer M, Sandstede J, Störk S, Voelker W, Ertl G, Knoll A, Wanner C, Strotmann JM (2005) The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Eur Heart J 26:1221–1227. https://doi.org/10.1093/eurheartj/ehi143

Article  PubMed  Google Scholar 

Pieroni M, Moon JC, Arbustini E, Barriales-Villa R, Camporeale A, Vujkovac AC, Elliott PM, Hagege A, Kuusisto J, Linhart A, Nordbeck P, Olivotto I, Pietilä-Effati P, Namdar M (2021) Cardiac involvement in Fabry disease: JACC review topic of the week. J Am Coll Cardiol 77:922–936. https://doi.org/10.1016/j.jacc.2020.12.024

Article  CAS  PubMed  Google Scholar 

Mehta A, Clarke JT, Giugliani R, Elliott P, Linhart A, Beck M, Sunder-Plassmann G, Investigators FOS (2009) Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry outcome survey. J Med Genet 46:548–552. https://doi.org/10.1136/jmg.2008.065904

Article  CAS  PubMed  Google Scholar 

Orsborne C, Bradley J, Bonnett LJ, Pleva LA, Naish JH, Clark DG, Abidin N, Woolfson P, Nucifora G, Schmitt M, Jovanovic A, Miller CA, Reid AB (2022) Validated model for prediction of adverse cardiac outcome in patients with Fabry disease. J Am Coll Cardiol 80:982–994. https://doi.org/10.1016/j.jacc.2022.06.022

Article  PubMed  Google Scholar 

Nordin S, Kozor R, Medina-Menacho K, Abdel-Gadir A, Baig S, Sado DM, Lobascio I, Murphy E, Lachmann RH, Mehta A, Edwards NC, Ramaswami U, Steeds RP, Hughes D, Moon JC (2019) Proposed stages of myocardial phenotype development in Fabry disease. JACC Cardiovasc Imaging 12:1673–1683. https://doi.org/10.1016/j.jcmg.2018.03.020

Article  PubMed  Google Scholar 

Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain DP (2016) X-chromosome inactivation in female patients with Fabry disease. Clin Genet 89:44–54. https://doi.org/10.1111/cge.12613

Article  CAS  PubMed  Google Scholar 

Germain DP, Elliott PM, Falissard B, Fomin VV, Hilz MJ, Jovanovic A, Kantola I, Linhart A, Mignani R, Namdar M, Nowak A, Oliveira JP, Pieroni M, Viana-Baptista M, Wanner C, Spada M (2019) The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: a systematic literature review by a European panel of experts. Mol Genet Metab Rep 19:100454. https://doi.org/10.1016/j.ymgmr.2019.100454

Article  CAS  PubMed  PubMed Central  Google Scholar 

Meucci MC, Lillo R, Del Franco A, Monda E, Iannaccone G, Baldassarre R, Di Nicola F, Parisi V, Lombardo A, Spinelli L, Biagini E, Pieroni M, Pisani A, Crea F, Iaccarino G, Limongelli G, Olivotto I, Graziani F (2023) Prognostic implications of the extent of cardiac damage in patients with Fabry disease. J Am Coll Cardiol 82:1524–1534. https://doi.org/10.1016/j.jacc.2023.07.02

Article  PubMed  Google Scholar 

Olivotto I, Cecchi F, Poggesi C, Yacoub MH (2012) Patterns of disease progression in hypertrophic cardiomyopathy: an individualized approach to clinical staging. Circ Heart Fail 5:535–546. https://doi.org/10.1161/CIRCHEARTFAILURE.112.967026

Article  PubMed  Google Scholar 

Wilson HC, Hopkin RJ, Madueme PC, Czosek RJ, Bailey LA, Taylor MD, Jefferies JL (2017) Arrhythmia and clinical cardiac findings in children with Anderson-Fabry disease. Am J Cardiol 120:251–255. https://doi.org/10.1016/j.amjcard.2017.04.016

Article  PubMed  Google Scholar 

Hernández-Hernández A, Diez-López C, Azevedo O, Palomino-Doza J, Alfonso F, Fuentes-Cañamero ME, Mogollón Jiménez MV, Casanova Rodríguez C, Ruz A, Tirón C, Climent V, Garcia-Pavia P (2021) Screening of Fabry disease in patients with chest pain without obstructive coronary artery disease. J Cardiovasc Transl Res 14:948–950. https://doi.org/10.1007/s12265-020-10097-2

Article  PubMed  Google Scholar 

Kitani Y, Nakagawa N, Sakamoto N, Takeuchi T, Takahashi F, Momosaki K, Nakamura K, Endo F, Maruyama H, Hasebe N (2019) Unexpectedly high prevalence of coronary spastic angina in patients with Anderson-Fabry disease. Circ J 83:481–484. https://doi.org/10.1253/circj.CJ-18-0734

Article  PubMed  Google Scholar 

Chimenti C, Morgante E, Tanzilli G, Mangieri E, Critelli G, Gaudio C, Russo MA, Frustaci A (2008) Angina in Fabry disease reflects coronary small vessel disease. Circ Heart Fail 1:161–169. https://doi.org/10.1161/CIRCHEARTFAILURE.108.769729

Article  PubMed  Google Scholar 

Coughlan JJ, Elkholy K, O'Brien J, Kiernan T (2016) Atypical patterns of cardiac involvement in Fabry disease. BMJ Case Rep 2016:bcr2015213819. https://doi.org/10.1136/bcr-2015-213819

Graziani F, Lillo R, Panaioli E, Spagnoletti G, Bruno I, Leccisotti L, Marano R, Manna R, Crea F (2019) Massive coronary microvascular dysfunction in severe Anderson-Fabry disease cardiomyopathy. Circ Cardiovasc Imaging 12:e009104. https://doi.org/10.1161/CIRCIMAGING.119.009104

Article  PubMed  Google Scholar 

Elliott PM, Kindler H, Shah JS, Sachdev B, Rimoldi OE, Thaman R, Tome MT, McKenna WJ, Lee P, Camici PG (2006) Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A. Heart 92:357–360. https://doi.org/10.1136/hrt.2004.054015

Article  CAS  PubMed  Google Scholar 

Roy A, Umar H, Ochoa-Ferraro A, Warfield A, Lewis N, Geberhiwot T, Steeds R (2021) Atherosclerosis in Fabry disease-a contemporary review. J Clin Med 10:4422. https://doi.org/10.3390/jcm10194422

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhou S, Wang X, Xu H, Li J, Zhang L, Li H (2022) Fabry disease with acute myocardial infarction, left ventricular thrombosis, and pericardial effusion: a case report. Medicine (Baltimore) 101:e29427. https://doi.org/10.1097/MD.0000000000029427

Article  PubMed  Google Scholar 

Linhart A, Kampmann C, Zamorano JL, Sunder-Plassmann G, Beck M, Mehta A, Elliott PM, European FOS investigators (2007) Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J 28:1228–1235. https://doi.org/10.1093/eurheartj/ehm153

Article  PubMed  Google Scholar 

Graziani F, Lillo R, Panaioli E, Spagnoletti G, Pieroni M, Ferrazzi P, Camporeale A, Verrecchia E, Sicignano LL, Manna R, Crea F (2021) Evidence of evolution towards left midventricular obstruction in severe Anderson-Fabry cardiomyopathy. ESC Heart Fail 8:725–728. https://doi.org/10.1002/ehf2.13101

Article  PubMed  Google Scholar 

Zemánek D, Marek J, Dostálová G, Magage S, Roblová L, Kovárník T, Linhart A (2021) Usefulness of alcohol septal ablation in the left ventricular outflow tract obstruction in Fabry disease cardiomyopathy. Am J Cardiol 150:110–113. https://doi.org/10.1016/j.amjcard.2021.03.042

Article  CAS  PubMed  Google Scholar 

Meghji Z, Nguyen A, Miranda WR, Geske JB, Schaff HV, Peck DS, Newman DB (2019) Surgical septal myectomy for relief of dynamic obstruction in Anderson-Fabry disease. Int J Cardiol 292:91–94. https://doi.org/10.1016/j.ijcard.2019.06.042

Article  PubMed  Google Scholar 

Efthimiou J, McLelland J, Betteridge DJ (1986) Short PR intervals and tachyarrhythmias in Fabry’s disease. Postgrad Med J 62:285–287. https://doi.org/10.1136/pgmj.62.726.285

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chimenti C, Russo MA, Frustaci A (2010) Atrial biopsy evidence of Fabry disease causing lone atrial fibrillation. Heart 96:1782–1783. https://doi.org/10.1136/hrt.2010.196162

Article  CAS  PubMed  Google Scholar 

Kim H, Kang MG, Park HW, Park JR, Hwang JY, Kim K (2021) Anderson-Fabry disease presenting with atrial fibrillation as earlier sign in a young patient: a case report. World J Clin Cases 9:4823–4828. https://doi.org/10.12998/wjcc.v9.i18.4823

Qian P, Ross D, Tchan M, Sadick N (2015) A patient with recurrent disabling atrial fibrillation and Fabry cardiomyopathy successfully treated with single ring pulmonary vein isolation. Int J Cardiol 182:375–376. https://doi.org/10.1016/j.ijcard.2015.01.001

Article  PubMed  Google Scholar 

Weidemann F, Maier SK, Störk S, Brunner T, Liu D, Hu K, Seydelmann N, Schneider A, Becher J, Canan-Kühl S, Blaschke D, Bijnens B, Ertl G, Wanner C, Nordbeck P (2016) Usefulness of an implantable loop recorder to detect clinically relevant arrhythmias in patients with advanced Fabry cardiomyopathy. Am J Cardiol 118:264–274. https://doi.org/10.1016/j.amjcard.2016.04.033

Article  PubMed  Google Scholar 

Pavlu L, Kocourkova L, Taborsky M, Petrkova J (2018) Ventricular tachycardia: a presentation of Fabry disease case report. Eur Heart J Case Rep 3:yty154. https://doi.org/10.1093/ehjcr/yty154

Hanneman K, Karur GR, Wasim S, Wald RM, Iwanochko RM, Morel CF (2020) Left ventricular hypertrophy and late gadolinium enhancement at cardiac MRI are associated with adverse cardiac events in Fabry disease. Radiology 294:42–49. https://doi.org/10.1148/radiol.2019191385

Article  PubMed  Google Scholar 

Silva-Gburek J, Rochford L, Hopkin R, Jefferies JL (2016) Ventricular tachycardia in Fabry disease detected in a 50-year-old woman during 14-day continuous cardiac monitoring. Tex Heart Inst J 43:531–533. https://doi.org/10.14503/THIJ-15-5572

Ditac G, Gardey K, Jobbé-Duval A, Fouilhoux A, Millat G, Chevalier P (2021) Late-onset Fabry disease revealed by ventricular tachycardia: a case report. HeartRhythm Case Rep 8:79–83. https://doi.org/10.1016/j.hrcr.2021.11.025

Article  PubMed  PubMed Central  Google Scholar 

Mills MT, Nelson TA, Kelland NF, Sahu J, Lee J, Lewis N, Hiwot T, Kyriacou AL (2021) Radiofrequency ablation of ventricular tachycardia in Anderson-Fabry disease: a case series. Eur Heart J Case Rep 5:ytaa529. https://doi.org/10.1093/ehjcr/ytaa529

Baig S, Edward NC, Kotecha D, Liu B, Nordin S, Kozor R, Moon JC, Geberhiwot T, Steeds RP (2018) Ventricular arrhythmia and sudden cardiac death in Fabry disease: a systematic review of risk factors in clinical practice. Europace 20:f153–f161. https://doi.org/10.1093/europace/eux261

Article  PubMed  Google Scholar 

Sené T, Lidove O, Sebbah J, Darondel JM, Picard H, Aaron L, Fain O, Zenone T, Joly D, Charron P, Ziza JM (2016) Cardiac device implantation in Fabry disease: a retrospective monocentric study. Medicine (Baltimore) 95:e4996. https://doi.org/10.1097/MD.0000000000004996

Article  PubMed  Google Scholar 

Suzuki M, Goto T, Kato R, Yamauchi K, Hayashi H (1990) Combined atrioventricular block and sinus node dysfunction in Fabry’s disease. Am Heart J 120:438–440. https://doi.org/10.1016/0002-8703(90)90096-g

Article  CAS  PubMed  Google Scholar 

Jastrzebski M, Bacior B, Dimitrow PP, Kawecka-Jaszcz K (2006) Electrophysiological study in a patient with Fabry disease and a short PQ interval. Europace 8:1045–1047.

留言 (0)

沒有登入
gif