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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

An expert consensus document on the management of cardiovascular manifestations of Fabry disease.
Linhart A, Germain DP, Olivotto I, Akhtar MM, Anastasakis A, Hughes D, Namdar M, Pieroni M, Hagège A, Cecchi F, Gimeno JR, Limongelli G, Elliott P
Eur J Heart Fail 2020 Jul;22(7):1076-1096. Epub 2020 Aug 14 doi: 10.1002/ejhf.1960. PMID: 32640076
Fabry disease: Review and experience during newborn screening.
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
High incidence of later-onset fabry disease revealed by newborn screening.
Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ
Am J Hum Genet 2006 Jul;79(1):31-40. Epub 2006 Apr 28 doi: 10.1086/504601. PMID: 16773563Free PMC Article

Recent clinical studies

Etiology

Fabry disease in cardiology practice: Literature review and expert point of view.
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
Cardiac Phenotype of Prehypertrophic Fabry Disease.
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
Fabry disease: Review and experience during newborn screening.
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
Ventricular arrhythmia and sudden cardiac death in Fabry disease: a systematic review of risk factors in clinical practice.
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
"Eyeing" the Cause of Heart Failure: Visible Telltale Clues.
Fred HL, Thangam M
Tex Heart Inst J 2016 Dec;43(6):472-557. Epub 2016 Dec 1 doi: 10.14503/THIJ-16-6085. PMID: 28154499Free PMC Article

Diagnosis

Atypical Subendocardial Late Gadolinium Enhancement in Anderson-Fabry Cardiomyopathy.
Ditaranto R, Chiti C, Milandri A, Lai F, Lovato L, Graziosi M, Graziani F, Pieroni M, Cappelli F, Limongelli G, Olivotto I, Biagini E
Circ Cardiovasc Imaging 2024 Oct;17(10):e016865. Epub 2024 Jul 12 doi: 10.1161/CIRCIMAGING.124.016865. PMID: 38994576
The Role of Cardiac Imaging in the Diagnosis and Management of Anderson-Fabry Disease.
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
Many Faces of Fabry's Cardiomyopathy.
Jain R, Kalvin L, Johnson B, Muthukumar L, Khandheria BK, Tajik AJ
JACC Cardiovasc Imaging 2018 Apr;11(4):644-647. Epub 2018 Jan 17 doi: 10.1016/j.jcmg.2017.10.018. PMID: 29361493
Fabry disease: Review and experience during newborn screening.
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
Fabry disease.
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

Therapy

Atypical Subendocardial Late Gadolinium Enhancement in Anderson-Fabry Cardiomyopathy.
Ditaranto R, Chiti C, Milandri A, Lai F, Lovato L, Graziosi M, Graziani F, Pieroni M, Cappelli F, Limongelli G, Olivotto I, Biagini E
Circ Cardiovasc Imaging 2024 Oct;17(10):e016865. Epub 2024 Jul 12 doi: 10.1161/CIRCIMAGING.124.016865. PMID: 38994576
Enzyme replacement therapy in Fabry cardiomyopathy: an incomplete treatment.
Nicholls K
Heart 2024 Jul 10;110(15):971. doi: 10.1136/heartjnl-2024-324238. PMID: 38906683
Ultrastructural Evidence of Glycosphingolipid Degradation After Enzyme Replacement Therapy in Patients With Fabry Disease.
Onoue K, Takemura G, Nakano T, Miyazaki N, Tsujimoto A, Watanabe T, Okada H, Kanamori H, Sugiura J, Kanaoka K, Ishihara S, Horii M, Akai Y, Sakaguchi Y, Saito Y
Circ J 2019 Sep 25;83(10):2081. Epub 2019 Mar 29 doi: 10.1253/circj.CJ-19-0127. PMID: 30930427
Fabry disease: Review and experience during newborn screening.
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
Fabry disease and cardiovascular involvement.
Anastasakis A, Papatheodorou E, Steriotis AK
Curr Pharm Des 2013;19(33):5997-6008. doi: 10.2174/13816128113199990353. PMID: 23448453

Prognosis

The Role of Cardiac Imaging in the Diagnosis and Management of Anderson-Fabry Disease.
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
Fabry disease in cardiology practice: Literature review and expert point of view.
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
Cardiac Phenotype of Prehypertrophic Fabry Disease.
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
Many Faces of Fabry's Cardiomyopathy.
Jain R, Kalvin L, Johnson B, Muthukumar L, Khandheria BK, Tajik AJ
JACC Cardiovasc Imaging 2018 Apr;11(4):644-647. Epub 2018 Jan 17 doi: 10.1016/j.jcmg.2017.10.018. PMID: 29361493
Fabry disease: Review and experience during newborn screening.
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

Clinical prediction guides

The Role of Cardiac Imaging in the Diagnosis and Management of Anderson-Fabry Disease.
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
Fabry disease in cardiology practice: Literature review and expert point of view.
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
Cardiac Phenotype of Prehypertrophic Fabry Disease.
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
Many Faces of Fabry's Cardiomyopathy.
Jain R, Kalvin L, Johnson B, Muthukumar L, Khandheria BK, Tajik AJ
JACC Cardiovasc Imaging 2018 Apr;11(4):644-647. Epub 2018 Jan 17 doi: 10.1016/j.jcmg.2017.10.018. PMID: 29361493
Fabry disease: Review and experience during newborn screening.
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

Recent systematic reviews

Ventricular arrhythmia and sudden cardiac death in Fabry disease: a systematic review of risk factors in clinical practice.
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

Supplemental Content

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    Related information

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      Related medical variations
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    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
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    • PubMed (OMIM)
      Related literature resources in PubMed

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