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Transthyretin Amyloid Cardiomyopathy

MedGen UID:
1709363
Concept ID:
C5237215
Disease or Syndrome

Definition

Cardiomyopathy resulting from the deposition of misfolded transthyretin. The condition can be classified by the presence (hereditary transthyretin amyloid) or absence (wild-type transthyretin amyloid) of mutation(s) in the TTR gene, encoding transthyretin. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTransthyretin Amyloid Cardiomyopathy

Professional guidelines

PubMed

Fontana M, Porcari A, Hawkins PN
Glob Heart 2023;18(1):63. Epub 2023 Nov 20 doi: 10.5334/gh.1275. PMID: 38028963Free PMC Article
Elliott P, Gundapaneni B, Sultan MB, Ines M, Garcia-Pavia P
Eur J Heart Fail 2023 Nov;25(11):2060-2064. Epub 2023 Jul 26 doi: 10.1002/ejhf.2974. PMID: 37434378
Kittleson MM, Maurer MS, Ambardekar AV, Bullock-Palmer RP, Chang PP, Eisen HJ, Nair AP, Nativi-Nicolau J, Ruberg FL; American Heart Association Heart Failure and Transplantation Committee of the Council on Clinical Cardiology
Circulation 2020 Jul 7;142(1):e7-e22. Epub 2020 Jun 1 doi: 10.1161/CIR.0000000000000792. PMID: 32476490

Recent clinical studies

Etiology

Gillmore JD, Judge DP, Cappelli F, Fontana M, Garcia-Pavia P, Gibbs S, Grogan M, Hanna M, Hoffman J, Masri A, Maurer MS, Nativi-Nicolau J, Obici L, Poulsen SH, Rockhold F, Shah KB, Soman P, Garg J, Chiswell K, Xu H, Cao X, Lystig T, Sinha U, Fox JC; ATTRibute-CM Investigators
N Engl J Med 2024 Jan 11;390(2):132-142. doi: 10.1056/NEJMoa2305434. PMID: 38197816
Brito D, Albrecht FC, de Arenaza DP, Bart N, Better N, Carvajal-Juarez I, Conceição I, Damy T, Dorbala S, Fidalgo JC, Garcia-Pavia P, Ge J, Gillmore JD, Grzybowski J, Obici L, Piñero D, Rapezzi C, Ueda M, Pinto FJ
Glob Heart 2023;18(1):59. Epub 2023 Oct 26 doi: 10.5334/gh.1262. PMID: 37901600Free PMC Article
Elliott P, Drachman BM, Gottlieb SS, Hoffman JE, Hummel SL, Lenihan DJ, Ebede B, Gundapaneni B, Li B, Sultan MB, Shah SJ
Circ Heart Fail 2022 Jan;15(1):e008193. Epub 2021 Dec 20 doi: 10.1161/CIRCHEARTFAILURE.120.008193. PMID: 34923848Free PMC Article
Witteles RM, Bokhari S, Damy T, Elliott PM, Falk RH, Fine NM, Gospodinova M, Obici L, Rapezzi C, Garcia-Pavia P
JACC Heart Fail 2019 Aug;7(8):709-716. Epub 2019 Jul 10 doi: 10.1016/j.jchf.2019.04.010. PMID: 31302046
Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M, Kristen AV, Grogan M, Witteles R, Damy T, Drachman BM, Shah SJ, Hanna M, Judge DP, Barsdorf AI, Huber P, Patterson TA, Riley S, Schumacher J, Stewart M, Sultan MB, Rapezzi C; ATTR-ACT Study Investigators
N Engl J Med 2018 Sep 13;379(11):1007-1016. Epub 2018 Aug 27 doi: 10.1056/NEJMoa1805689. PMID: 30145929

Diagnosis

Elliott P, Drachman BM, Gottlieb SS, Hoffman JE, Hummel SL, Lenihan DJ, Ebede B, Gundapaneni B, Li B, Sultan MB, Shah SJ
Circ Heart Fail 2022 Jan;15(1):e008193. Epub 2021 Dec 20 doi: 10.1161/CIRCHEARTFAILURE.120.008193. PMID: 34923848Free PMC Article
Garcia-Pavia P, Domínguez F, Gonzalez-Lopez E
Med Clin (Barc) 2021 Feb 12;156(3):126-134. Epub 2020 Oct 31 doi: 10.1016/j.medcli.2020.06.064. PMID: 33138983
Kittleson MM, Maurer MS, Ambardekar AV, Bullock-Palmer RP, Chang PP, Eisen HJ, Nair AP, Nativi-Nicolau J, Ruberg FL; American Heart Association Heart Failure and Transplantation Committee of the Council on Clinical Cardiology
Circulation 2020 Jul 7;142(1):e7-e22. Epub 2020 Jun 1 doi: 10.1161/CIR.0000000000000792. PMID: 32476490
Witteles RM, Bokhari S, Damy T, Elliott PM, Falk RH, Fine NM, Gospodinova M, Obici L, Rapezzi C, Garcia-Pavia P
JACC Heart Fail 2019 Aug;7(8):709-716. Epub 2019 Jul 10 doi: 10.1016/j.jchf.2019.04.010. PMID: 31302046
Ruberg FL, Grogan M, Hanna M, Kelly JW, Maurer MS
J Am Coll Cardiol 2019 Jun 11;73(22):2872-2891. doi: 10.1016/j.jacc.2019.04.003. PMID: 31171094Free PMC Article

Therapy

Gillmore JD, Judge DP, Cappelli F, Fontana M, Garcia-Pavia P, Gibbs S, Grogan M, Hanna M, Hoffman J, Masri A, Maurer MS, Nativi-Nicolau J, Obici L, Poulsen SH, Rockhold F, Shah KB, Soman P, Garg J, Chiswell K, Xu H, Cao X, Lystig T, Sinha U, Fox JC; ATTRibute-CM Investigators
N Engl J Med 2024 Jan 11;390(2):132-142. doi: 10.1056/NEJMoa2305434. PMID: 38197816
Elliott P, Drachman BM, Gottlieb SS, Hoffman JE, Hummel SL, Lenihan DJ, Ebede B, Gundapaneni B, Li B, Sultan MB, Shah SJ
Circ Heart Fail 2022 Jan;15(1):e008193. Epub 2021 Dec 20 doi: 10.1161/CIRCHEARTFAILURE.120.008193. PMID: 34923848Free PMC Article
Damy T, Garcia-Pavia P, Hanna M, Judge DP, Merlini G, Gundapaneni B, Patterson TA, Riley S, Schwartz JH, Sultan MB, Witteles R
Eur J Heart Fail 2021 Feb;23(2):277-285. Epub 2020 Nov 12 doi: 10.1002/ejhf.2027. PMID: 33070419Free PMC Article
Witteles RM, Bokhari S, Damy T, Elliott PM, Falk RH, Fine NM, Gospodinova M, Obici L, Rapezzi C, Garcia-Pavia P
JACC Heart Fail 2019 Aug;7(8):709-716. Epub 2019 Jul 10 doi: 10.1016/j.jchf.2019.04.010. PMID: 31302046
Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M, Kristen AV, Grogan M, Witteles R, Damy T, Drachman BM, Shah SJ, Hanna M, Judge DP, Barsdorf AI, Huber P, Patterson TA, Riley S, Schumacher J, Stewart M, Sultan MB, Rapezzi C; ATTR-ACT Study Investigators
N Engl J Med 2018 Sep 13;379(11):1007-1016. Epub 2018 Aug 27 doi: 10.1056/NEJMoa1805689. PMID: 30145929

Prognosis

Brito D, Albrecht FC, de Arenaza DP, Bart N, Better N, Carvajal-Juarez I, Conceição I, Damy T, Dorbala S, Fidalgo JC, Garcia-Pavia P, Ge J, Gillmore JD, Grzybowski J, Obici L, Piñero D, Rapezzi C, Ueda M, Pinto FJ
Glob Heart 2023;18(1):59. Epub 2023 Oct 26 doi: 10.5334/gh.1262. PMID: 37901600Free PMC Article
Obi CA, Mostertz WC, Griffin JM, Judge DP
Methodist Debakey Cardiovasc J 2022;18(2):17-26. Epub 2022 Mar 14 doi: 10.14797/mdcvj.1066. PMID: 35414855Free PMC Article
Garcia-Pavia P, Bengel F, Brito D, Damy T, Duca F, Dorbala S, Nativi-Nicolau J, Obici L, Rapezzi C, Sekijima Y, Elliott PM
Eur J Heart Fail 2021 Jun;23(6):895-905. Epub 2021 May 24 doi: 10.1002/ejhf.2198. PMID: 33915002Free PMC Article
Witteles RM, Bokhari S, Damy T, Elliott PM, Falk RH, Fine NM, Gospodinova M, Obici L, Rapezzi C, Garcia-Pavia P
JACC Heart Fail 2019 Aug;7(8):709-716. Epub 2019 Jul 10 doi: 10.1016/j.jchf.2019.04.010. PMID: 31302046
Ruberg FL, Grogan M, Hanna M, Kelly JW, Maurer MS
J Am Coll Cardiol 2019 Jun 11;73(22):2872-2891. doi: 10.1016/j.jacc.2019.04.003. PMID: 31171094Free PMC Article

Clinical prediction guides

Gillmore JD, Judge DP, Cappelli F, Fontana M, Garcia-Pavia P, Gibbs S, Grogan M, Hanna M, Hoffman J, Masri A, Maurer MS, Nativi-Nicolau J, Obici L, Poulsen SH, Rockhold F, Shah KB, Soman P, Garg J, Chiswell K, Xu H, Cao X, Lystig T, Sinha U, Fox JC; ATTRibute-CM Investigators
N Engl J Med 2024 Jan 11;390(2):132-142. doi: 10.1056/NEJMoa2305434. PMID: 38197816
Takashio S, Morioka M, Ishii M, Morikawa K, Hirakawa K, Hanatani S, Oike F, Usuku H, Kidoh M, Oda S, Yamamoto E, Matsushita K, Ueda M, Tsujita K
ESC Heart Fail 2023 Aug;10(4):2319-2329. Epub 2023 Apr 18 doi: 10.1002/ehf2.14380. PMID: 37073415Free PMC Article
Davies DR, Redfield MM, Scott CG, Minamisawa M, Grogan M, Dispenzieri A, Chareonthaitawee P, Shah AM, Shah SJ, Wehbe RM, Solomon SD, Reddy YNV, Borlaug BA, AbouEzzeddine OF
JAMA Cardiol 2022 Oct 1;7(10):1036-1044. doi: 10.1001/jamacardio.2022.1781. PMID: 36069809Free PMC Article
Kittleson MM, Maurer MS, Ambardekar AV, Bullock-Palmer RP, Chang PP, Eisen HJ, Nair AP, Nativi-Nicolau J, Ruberg FL; American Heart Association Heart Failure and Transplantation Committee of the Council on Clinical Cardiology
Circulation 2020 Jul 7;142(1):e7-e22. Epub 2020 Jun 1 doi: 10.1161/CIR.0000000000000792. PMID: 32476490
Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M, Kristen AV, Grogan M, Witteles R, Damy T, Drachman BM, Shah SJ, Hanna M, Judge DP, Barsdorf AI, Huber P, Patterson TA, Riley S, Schumacher J, Stewart M, Sultan MB, Rapezzi C; ATTR-ACT Study Investigators
N Engl J Med 2018 Sep 13;379(11):1007-1016. Epub 2018 Aug 27 doi: 10.1056/NEJMoa1805689. PMID: 30145929

Recent systematic reviews

Formiga F, Baeza LS, Chivite D, Yun S
ESC Heart Fail 2024 Apr;11(2):662-671. Epub 2023 Dec 21 doi: 10.1002/ehf2.14622. PMID: 38130034Free PMC Article
Tingen HSA, Tubben A, van 't Oever JH, Pastoor EM, van Zon PPA, Nienhuis HLA, van der Meer P, Slart RHJA
Eur J Nucl Med Mol Imaging 2023 Dec;51(1):93-109. Epub 2023 Aug 10 doi: 10.1007/s00259-023-06381-3. PMID: 37561144Free PMC Article
Bay K, Gustafsson F, Maiborg M, Bagger-Bahnsen A, Strand AM, Pilgaard T, Poulsen SH
ESC Heart Fail 2022 Jun;9(3):1524-1541. Epub 2022 Mar 27 doi: 10.1002/ehf2.13884. PMID: 35343098Free PMC Article
Goyal A, Lahan S, Dalia T, Ranka S, Bhattad VB, Patel RR, Shah Z
Heart Fail Rev 2022 May;27(3):849-856. Epub 2021 Mar 25 doi: 10.1007/s10741-021-10098-6. PMID: 33768376
Bruno M, Castaño A, Burton A, Grodin JL
Heart Fail Rev 2021 Jan;26(1):35-45. doi: 10.1007/s10741-020-10010-8. PMID: 32794090Free PMC Article

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