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Cardiac amyloidosis

MedGen UID:
488730
•Concept ID:
C0268407
•
Disease or Syndrome
Synonyms: Amyloid cardiomyopathy; Amyloid heart muscle disease; AS transthyretin amyloidosis; Cardiac Amyloidosis; Senile cardiac amyloidosis; Stiff heart syndrome; Wild-type transthyretin cardiac amyloidosis
SNOMED CT: Senile cardiac amyloidosis (16573007); AS transthyretin amyloidosis (16573007); Cardiac amyloidosis (16573007); Stiff heart syndrome (16573007); Wild-type transthyretin cardiac amyloidosis (16573007); Amyloid heart muscle disease (16573007)
 
HPO: HP:0030843

Definition

Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding. [from HPO]

Conditions with this feature

Meretoja syndrome
MedGen UID:
301243
•Concept ID:
C1622345
•
Disease or Syndrome
The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including lattice corneal dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported (Meretoja, 1973).
See: Condition Record
Meretoja syndrome

Professional guidelines

PubMed

2022 AHA/ACC/HFSA Guideline for the Management of Heart Failure: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
Heidenreich PA, Bozkurt B, Aguilar D, Allen LA, Byun JJ, Colvin MM, Deswal A, Drazner MH, Dunlay SM, Evers LR, Fang JC, Fedson SE, Fonarow GC, Hayek SS, Hernandez AF, Khazanie P, Kittleson MM, Lee CS, Link MS, Milano CA, Nnacheta LC, Sandhu AT, Stevenson LW, Vardeny O, Vest AR, Yancy CW
Circulation 2022 May 3;145(18):e876-e894. Epub 2022 Apr 1 doi: 10.1161/CIR.0000000000001062. PMID: 35363500
2022 AHA/ACC/HFSA Guideline for the Management of Heart Failure: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
Heidenreich PA, Bozkurt B, Aguilar D, Allen LA, Byun JJ, Colvin MM, Deswal A, Drazner MH, Dunlay SM, Evers LR, Fang JC, Fedson SE, Fonarow GC, Hayek SS, Hernandez AF, Khazanie P, Kittleson MM, Lee CS, Link MS, Milano CA, Nnacheta LC, Sandhu AT, Stevenson LW, Vardeny O, Vest AR, Yancy CW
Circulation 2022 May 3;145(18):e895-e1032. Epub 2022 Apr 1 doi: 10.1161/CIR.0000000000001063. PMID: 35363499
Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases.
Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A
Eur Heart J 2021 Apr 21;42(16):1554-1568. doi: 10.1093/eurheartj/ehab072. PMID: 33825853Free PMC Article

Recent clinical studies

Etiology

Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases.
Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A
Eur Heart J 2021 Apr 21;42(16):1554-1568. doi: 10.1093/eurheartj/ehab072. PMID: 33825853Free PMC Article
Aortic Stenosis and Cardiac Amyloidosis: JACC Review Topic of the Week.
Ternacle J, Krapf L, Mohty D, Magne J, Nguyen A, Galat A, Gallet R, Teiger E, Côté N, Clavel MA, Tournoux F, Pibarot P, Damy T
J Am Coll Cardiol 2019 Nov 26;74(21):2638-2651. doi: 10.1016/j.jacc.2019.09.056. PMID: 31753206
Cardiac amyloidosis.
Martinez-Naharro A, Hawkins PN, Fontana M
Clin Med (Lond) 2018 Apr 1;18(Suppl 2):s30-s35. doi: 10.7861/clinmedicine.18-2-s30. PMID: 29700090Free PMC Article
AL (Light-Chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy.
Falk RH, Alexander KM, Liao R, Dorbala S
J Am Coll Cardiol 2016 Sep 20;68(12):1323-41. doi: 10.1016/j.jacc.2016.06.053. PMID: 27634125
Systemic amyloidosis.
Wechalekar AD, Gillmore JD, Hawkins PN
Lancet 2016 Jun 25;387(10038):2641-2654. Epub 2015 Dec 21 doi: 10.1016/S0140-6736(15)01274-X. PMID: 26719234

Diagnosis

Cardiac Amyloidosis.
Bloom MW, Gorevic PD
Ann Intern Med 2023 Mar;176(3):ITC33-ITC48. Epub 2023 Mar 14 doi: 10.7326/AITC202303210. PMID: 36913688
Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases.
Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A
Eur Heart J 2021 Apr 21;42(16):1554-1568. doi: 10.1093/eurheartj/ehab072. PMID: 33825853Free PMC Article
Cardiac amyloidosis.
Martinez-Naharro A, Hawkins PN, Fontana M
Clin Med (Lond) 2018 Apr 1;18(Suppl 2):s30-s35. doi: 10.7861/clinmedicine.18-2-s30. PMID: 29700090Free PMC Article
AL (Light-Chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy.
Falk RH, Alexander KM, Liao R, Dorbala S
J Am Coll Cardiol 2016 Sep 20;68(12):1323-41. doi: 10.1016/j.jacc.2016.06.053. PMID: 27634125
Systemic amyloidosis.
Wechalekar AD, Gillmore JD, Hawkins PN
Lancet 2016 Jun 25;387(10038):2641-2654. Epub 2015 Dec 21 doi: 10.1016/S0140-6736(15)01274-X. PMID: 26719234

Therapy

2022 ESC Guidelines on cardio-oncology developed in collaboration with the European Hematology Association (EHA), the European Society for Therapeutic Radiology and Oncology (ESTRO) and the International Cardio-Oncology Society (IC-OS).
Lyon AR, López-Fernández T, Couch LS, Asteggiano R, Aznar MC, Bergler-Klein J, Boriani G, Cardinale D, Cordoba R, Cosyns B, Cutter DJ, de Azambuja E, de Boer RA, Dent SF, Farmakis D, Gevaert SA, Gorog DA, Herrmann J, Lenihan D, Moslehi J, Moura B, Salinger SS, Stephens R, Suter TM, Szmit S, Tamargo J, Thavendiranathan P, Tocchetti CG, van der Meer P, van der Pal HJH; ESC Scientific Document Group
Eur Heart J 2022 Nov 1;43(41):4229-4361. doi: 10.1093/eurheartj/ehac244. PMID: 36017568
Cardiac Amyloidosis Treatment.
Stern LK, Patel J
Methodist Debakey Cardiovasc J 2022;18(2):59-72. Epub 2022 Mar 14 doi: 10.14797/mdcvj.1050. PMID: 35414852Free PMC Article
Pathophysiology and Therapeutic Approaches to Cardiac Amyloidosis.
Griffin JM, Rosenblum H, Maurer MS
Circ Res 2021 May 14;128(10):1554-1575. Epub 2021 May 13 doi: 10.1161/CIRCRESAHA.121.318187. PMID: 33983835Free PMC Article
Cardiac Amyloidosis: Overlooked, Underappreciated, and Treatable.
Rubin J, Maurer MS
Annu Rev Med 2020 Jan 27;71:203-219. doi: 10.1146/annurev-med-052918-020140. PMID: 31986086
Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy.
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

Cardiac Amyloidosis.
Bloom MW, Gorevic PD
Ann Intern Med 2023 Mar;176(3):ITC33-ITC48. Epub 2023 Mar 14 doi: 10.7326/AITC202303210. PMID: 36913688
Transthyretin cardiac amyloidosis.
Porcari A, Fontana M, Gillmore JD
Cardiovasc Res 2023 Feb 3;118(18):3517-3535. doi: 10.1093/cvr/cvac119. PMID: 35929637Free PMC Article
Cardiac Amyloidosis Treatment.
Stern LK, Patel J
Methodist Debakey Cardiovasc J 2022;18(2):59-72. Epub 2022 Mar 14 doi: 10.14797/mdcvj.1050. PMID: 35414852Free PMC Article
Cardiac amyloidosis.
Martinez-Naharro A, Hawkins PN, Fontana M
Clin Med (Lond) 2018 Apr 1;18(Suppl 2):s30-s35. doi: 10.7861/clinmedicine.18-2-s30. PMID: 29700090Free PMC Article
AL (Light-Chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy.
Falk RH, Alexander KM, Liao R, Dorbala S
J Am Coll Cardiol 2016 Sep 20;68(12):1323-41. doi: 10.1016/j.jacc.2016.06.053. PMID: 27634125

Clinical prediction guides

Patisiran Treatment in Patients with Transthyretin Cardiac Amyloidosis.
Maurer MS, Kale P, Fontana M, Berk JL, Grogan M, Gustafsson F, Hung RR, Gottlieb RL, Damy T, González-Duarte A, Sarswat N, Sekijima Y, Tahara N, Taylor MS, Kubanek M, Donal E, Palecek T, Tsujita K, Tang WHW, Yu WC, Obici L, Simões M, Fernandes F, Poulsen SH, Diemberger I, Perfetto F, Solomon SD, Di Carli M, Badri P, White MT, Chen J, Yureneva E, Sweetser MT, Jay PY, Garg PP, Vest J, Gillmore JD; APOLLO-B Trial Investigators
N Engl J Med 2023 Oct 26;389(17):1553-1565. doi: 10.1056/NEJMoa2300757. PMID: 37888916Free PMC Article
Management of Arrhythmias in Cardiac Amyloidosis.
Giancaterino S, Urey MA, Darden D, Hsu JC
JACC Clin Electrophysiol 2020 Apr;6(4):351-361. doi: 10.1016/j.jacep.2020.01.004. PMID: 32327068
How to Image Cardiac Amyloidosis: A Practical Approach.
Dorbala S, Cuddy S, Falk RH
JACC Cardiovasc Imaging 2020 Jun;13(6):1368-1383. Epub 2019 Oct 11 doi: 10.1016/j.jcmg.2019.07.015. PMID: 31607664Free PMC Article
Cardiac amyloidosis: An update on pathophysiology, diagnosis, and treatment.
Siddiqi OK, Ruberg FL
Trends Cardiovasc Med 2018 Jan;28(1):10-21. Epub 2017 Jul 13 doi: 10.1016/j.tcm.2017.07.004. PMID: 28739313Free PMC Article
Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.
Muchtar E, Blauwet LA, Gertz MA
Circ Res 2017 Sep 15;121(7):819-837. doi: 10.1161/CIRCRESAHA.117.310982. PMID: 28912185

Recent systematic reviews

Treatment of amyloid light chain cardiac amyloidosis: systematic review and future directions.
Alsomali D, Mohty D, Grogan M, Dispenzieri A, Aljurf M, Kumar S, Gertz MA, Hanbali A, Hashmi SK
Clin Adv Hematol Oncol 2022 Oct;20(10):609-618. PMID: 36206073
Prevalence and Risk Factors of Cardiac Amyloidosis in Heart Failure: A Systematic Review and Meta-Analysis.
See ASY, Ho JS, Chan MY, Lim YC, Yeo TC, Chai P, Wong RCC, Lin W, Sia CH
Heart Lung Circ 2022 Nov;31(11):1450-1462. Epub 2022 Sep 20 doi: 10.1016/j.hlc.2022.08.002. PMID: 36137915
Prevalence and clinical outcomes of transthyretin amyloidosis: a systematic review and meta-analysis.
Antonopoulos AS, Panagiotopoulos I, Kouroutzoglou A, Koutsis G, Toskas P, Lazaros G, Toutouzas K, Tousoulis D, Tsioufis K, Vlachopoulos C
Eur J Heart Fail 2022 Sep;24(9):1677-1696. Epub 2022 Aug 2 doi: 10.1002/ejhf.2589. PMID: 35730461
Outcomes of heart transplantation in cardiac amyloidosis: an updated systematic review.
Lakhdar S, Buttar C, Nassar M, Ciobanu C, Patel R, Munira MS
Heart Fail Rev 2022 Nov;27(6):2201-2209. Epub 2022 May 20 doi: 10.1007/s10741-022-10252-8. PMID: 35595919
Redefining the epidemiology of cardiac amyloidosis. A systematic review and meta-analysis of screening studies.
Aimo A, Merlo M, Porcari A, Georgiopoulos G, Pagura L, Vergaro G, Sinagra G, Emdin M, Rapezzi C
Eur J Heart Fail 2022 Dec;24(12):2342-2351. Epub 2022 May 16 doi: 10.1002/ejhf.2532. PMID: 35509173Free PMC Article

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