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Fabry disease, cardiac variant

MedGen UID:
372644
Concept ID:
C1970820
Disease or Syndrome
Synonym: Fabry Disease, Cardiac Variant
 
OMIM®: 300644; 301500

Professional guidelines

PubMed

Perry R, Shah R, Saiedi M, Patil S, Ganesan A, Linhart A, Selvanayagam JB
JACC Cardiovasc Imaging 2019 Jul;12(7 Pt 1):1230-1242. doi: 10.1016/j.jcmg.2018.11.039. PMID: 31272606
Hsu TR, Niu DM
Trends Cardiovasc Med 2018 May;28(4):274-281. Epub 2017 Oct 20 doi: 10.1016/j.tcm.2017.10.001. PMID: 29100912
Kozor R, Grieve SM, Tchan MC, Callaghan F, Hamilton-Craig C, Denaro C, Moon JC, Figtree GA
Heart 2016 Feb 15;102(4):298-302. Epub 2016 Jan 4 doi: 10.1136/heartjnl-2015-308494. PMID: 26729695

Recent clinical studies

Etiology

Vijapurapu R, Geberhiwot T, Jovanovic A, Baig S, Nordin S, Kozor R, Leyva F, Kotecha D, Wheeldon N, Deegan P, Rusk RA, Moon JC, Hughes DA, Woolfson P, Steeds RP
Heart 2019 Dec;105(23):1825-1831. Epub 2019 Aug 24 doi: 10.1136/heartjnl-2019-315229. PMID: 31446426Free PMC Article
Hagège A, Réant P, Habib G, Damy T, Barone-Rochette G, Soulat G, Donal E, Germain DP
Arch Cardiovasc Dis 2019 Apr;112(4):278-287. Epub 2019 Feb 28 doi: 10.1016/j.acvd.2019.01.002. PMID: 30826269
Nordin S, Kozor R, Baig S, Abdel-Gadir A, Medina-Menacho K, Rosmini S, Captur G, Tchan M, Geberhiwot T, Murphy E, Lachmann R, Ramaswami U, Edwards NC, Hughes D, Steeds RP, Moon JC
Circ Cardiovasc Imaging 2018 Jun;11(6):e007168. doi: 10.1161/CIRCIMAGING.117.007168. PMID: 29853467Free PMC Article
Hsu TR, Niu DM
Trends Cardiovasc Med 2018 May;28(4):274-281. Epub 2017 Oct 20 doi: 10.1016/j.tcm.2017.10.001. PMID: 29100912
Kozor R, Grieve SM, Tchan MC, Callaghan F, Hamilton-Craig C, Denaro C, Moon JC, Figtree GA
Heart 2016 Feb 15;102(4):298-302. Epub 2016 Jan 4 doi: 10.1136/heartjnl-2015-308494. PMID: 26729695

Diagnosis

Perry R, Shah R, Saiedi M, Patil S, Ganesan A, Linhart A, Selvanayagam JB
JACC Cardiovasc Imaging 2019 Jul;12(7 Pt 1):1230-1242. doi: 10.1016/j.jcmg.2018.11.039. PMID: 31272606
Hsu TR, Niu DM
Trends Cardiovasc Med 2018 May;28(4):274-281. Epub 2017 Oct 20 doi: 10.1016/j.tcm.2017.10.001. PMID: 29100912
Yuasa T, Takenaka T, Higuchi K, Uchiyama N, Horizoe Y, Cyaen H, Mizukami N, Takasaki K, Kisanuki A, Miyata M, Ohishi M
J Echocardiogr 2017 Dec;15(4):151-157. Epub 2017 Jul 3 doi: 10.1007/s12574-017-0340-x. PMID: 28674962
Anastasakis A, Papatheodorou E, Steriotis AK
Curr Pharm Des 2013;19(33):5997-6008. doi: 10.2174/13816128113199990353. PMID: 23448453
Tuttolomondo A, Pecoraro R, Simonetta I, Miceli S, Pinto A, Licata G
Curr Pharm Des 2013;19(33):5974-96. doi: 10.2174/13816128113199990352. PMID: 23448451

Therapy

Nicholls K
Heart 2024 Jul 10;110(15):971. doi: 10.1136/heartjnl-2024-324238. PMID: 38906683
Nordin S, Kozor R, Vijapurapu R, Augusto JB, Knott KD, Captur G, Treibel TA, Ramaswami U, Tchan M, Geberhiwot T, Steeds RP, Hughes DA, Moon JC
Circ Cardiovasc Imaging 2019 Dec;12(12):e009430. Epub 2019 Dec 12 doi: 10.1161/CIRCIMAGING.119.009430. PMID: 31826677Free PMC Article
Nordin S, Kozor R, Baig S, Abdel-Gadir A, Medina-Menacho K, Rosmini S, Captur G, Tchan M, Geberhiwot T, Murphy E, Lachmann R, Ramaswami U, Edwards NC, Hughes D, Steeds RP, Moon JC
Circ Cardiovasc Imaging 2018 Jun;11(6):e007168. doi: 10.1161/CIRCIMAGING.117.007168. PMID: 29853467Free PMC Article
Hsu TR, Niu DM
Trends Cardiovasc Med 2018 May;28(4):274-281. Epub 2017 Oct 20 doi: 10.1016/j.tcm.2017.10.001. PMID: 29100912
Anastasakis A, Papatheodorou E, Steriotis AK
Curr Pharm Des 2013;19(33):5997-6008. doi: 10.2174/13816128113199990353. PMID: 23448453

Prognosis

Perry R, Shah R, Saiedi M, Patil S, Ganesan A, Linhart A, Selvanayagam JB
JACC Cardiovasc Imaging 2019 Jul;12(7 Pt 1):1230-1242. doi: 10.1016/j.jcmg.2018.11.039. PMID: 31272606
Hagège A, Réant P, Habib G, Damy T, Barone-Rochette G, Soulat G, Donal E, Germain DP
Arch Cardiovasc Dis 2019 Apr;112(4):278-287. Epub 2019 Feb 28 doi: 10.1016/j.acvd.2019.01.002. PMID: 30826269
Nordin S, Kozor R, Baig S, Abdel-Gadir A, Medina-Menacho K, Rosmini S, Captur G, Tchan M, Geberhiwot T, Murphy E, Lachmann R, Ramaswami U, Edwards NC, Hughes D, Steeds RP, Moon JC
Circ Cardiovasc Imaging 2018 Jun;11(6):e007168. doi: 10.1161/CIRCIMAGING.117.007168. PMID: 29853467Free PMC Article
Hsu TR, Niu DM
Trends Cardiovasc Med 2018 May;28(4):274-281. Epub 2017 Oct 20 doi: 10.1016/j.tcm.2017.10.001. PMID: 29100912
Tuttolomondo A, Pecoraro R, Simonetta I, Miceli S, Pinto A, Licata G
Curr Pharm Des 2013;19(33):5974-96. doi: 10.2174/13816128113199990352. PMID: 23448451

Clinical prediction guides

Perry R, Shah R, Saiedi M, Patil S, Ganesan A, Linhart A, Selvanayagam JB
JACC Cardiovasc Imaging 2019 Jul;12(7 Pt 1):1230-1242. doi: 10.1016/j.jcmg.2018.11.039. PMID: 31272606
Hagège A, Réant P, Habib G, Damy T, Barone-Rochette G, Soulat G, Donal E, Germain DP
Arch Cardiovasc Dis 2019 Apr;112(4):278-287. Epub 2019 Feb 28 doi: 10.1016/j.acvd.2019.01.002. PMID: 30826269
Nordin S, Kozor R, Baig S, Abdel-Gadir A, Medina-Menacho K, Rosmini S, Captur G, Tchan M, Geberhiwot T, Murphy E, Lachmann R, Ramaswami U, Edwards NC, Hughes D, Steeds RP, Moon JC
Circ Cardiovasc Imaging 2018 Jun;11(6):e007168. doi: 10.1161/CIRCIMAGING.117.007168. PMID: 29853467Free PMC Article
Hsu TR, Niu DM
Trends Cardiovasc Med 2018 May;28(4):274-281. Epub 2017 Oct 20 doi: 10.1016/j.tcm.2017.10.001. PMID: 29100912
Tuttolomondo A, Pecoraro R, Simonetta I, Miceli S, Pinto A, Licata G
Curr Pharm Des 2013;19(33):5974-96. doi: 10.2174/13816128113199990352. PMID: 23448451

Recent systematic reviews

Baig S, Edward NC, Kotecha D, Liu B, Nordin S, Kozor R, Moon JC, Geberhiwot T, Steeds RP
Europace 2018 Sep 1;20(FI2):f153-f161. doi: 10.1093/europace/eux261. PMID: 29045633

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