Benson MD, Buxbaum JN, Eisenberg DS et al (2020) Amyloid nomenclature 2020: update and recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid 27:217–222. https://doi.org/10.1080/13506129.2020.1835263
Article CAS PubMed Google Scholar
Gilstrap LG, Dominici F, Wang Y et al (2019) Epidemiology of Cardiac Amyloidosis-Associated Heart Failure Hospitalizations Among Fee-for-Service Medicare Beneficiaries in the United States. Circ Heart Fail 12:e005407. https://doi.org/10.1161/CIRCHEARTFAILURE.118.005407
Article PubMed PubMed Central Google Scholar
Kazi DS, Bellows BK, Baron SJ et al (2020) Cost-Effectiveness of Tafamidis Therapy for Transthyretin Amyloid Cardiomyopathy. Circulation 141:1214–1224. https://doi.org/10.1161/CIRCULATIONAHA.119.045093
Article PubMed PubMed Central Google Scholar
Ternacle J, Krapf L, Mohty D et al (2019) Aortic Stenosis and Cardiac Amyloidosis. JACC 74:2638–2651. https://doi.org/10.1016/j.jacc.2019.09.056
Tanskanen M, Peuralinna T, Polvikoski T, et al (2008) Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2‐macroglobulin and tau: A population‐based autopsy study
Cornwell GG, Murdoch WL, Kyle RA et al (1983) Frequency and distribution of senile cardiovascular amyloid: A clinicopathologic correlation. Am J Med 75:618–623. https://doi.org/10.1016/0002-9343(83)90443-6
Maurer MS, Hanna M, Grogan M et al (2016) Genotype and Phenotype of Transthyretin Cardiac Amyloidosis in the United States: The Transthyretin Amyloid Outcome Survey (THAOS). J Am Coll Cardiol 68:161–172. https://doi.org/10.1016/j.jacc.2016.03.596
Article CAS PubMed PubMed Central Google Scholar
Jacobson DR, Alexander AA, Tagoe C, Buxbaum JN (2015) Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans. Amyloid 22:171–174. https://doi.org/10.3109/13506129.2015.1051219
Article CAS PubMed Google Scholar
Gorram F, Olsson M, Alarcon F et al (2021) New data on the genetic profile and penetrance of hereditary Val30Met transthyretin amyloidosis in Sweden. Amyloid Int J Exp Clin Investig Off J Int Soc Amyloidosis 28:84–90. https://doi.org/10.1080/13506129.2020.1841623
Reilly MM, Staunton H, Harding AE (1995) Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study. J Neurol Neurosurg Psychiatry 59:45–49. https://doi.org/10.1136/jnnp.59.1.45
Article CAS PubMed PubMed Central Google Scholar
Sekijima Y, Nakamura K (1993) Hereditary Transthyretin Amyloidosis. In: Adam MP, Feldman J, Mirzaa GM, et al (eds) GeneReviews®. University of Washington, Seattle, Seattle (WA)
Buxbaum J, Alexander A, Koziol J et al (2010) Significance of the amyloidogenic transthyretin Val 122 Ile allele in African Americans in the Arteriosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) Studies. Am Heart J 159:864–870. https://doi.org/10.1016/j.ahj.2010.02.006
Article CAS PubMed PubMed Central Google Scholar
Jacobson D, Tagoe C, Schwartzbard A et al (2011) Relation of Clinical, Echocardiographic and Electrocardiographic Features of Cardiac Amyloidosis to the Presence of the Transthyretin V122I Allele in Older African-American Men. Am J Cardiol 108:440–444. https://doi.org/10.1016/j.amjcard.2011.03.069
Article CAS PubMed Google Scholar
Madhani A, Sabogal N, Massillon D et al (2023) Clinical Penetrance of the Transthyretin V122I Variant in Older Black Patients With Heart Failure: The SCAN-MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study. J Am Heart Assoc 12:e028973. https://doi.org/10.1161/JAHA.122.028973
Article CAS PubMed PubMed Central Google Scholar
Quarta CC, Buxbaum JN, Shah AM et al (2015) The Amyloidogenic V122I Transthyretin Variant in Elderly Black Americans. N Engl J Med 372:21–29. https://doi.org/10.1056/NEJMoa1404852
Article CAS PubMed PubMed Central Google Scholar
Plante-Bordeneuve V (2003) Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families. J Med Genet 40:120e–1120. https://doi.org/10.1136/jmg.40.11.e120
Lane T, Fontana M, Martinez-Naharro A et al (2019) Natural History, Quality of Life, and Outcome in Cardiac Transthyretin Amyloidosis. Circulation 140:16–26. https://doi.org/10.1161/CIRCULATIONAHA.118.038169
Article CAS PubMed Google Scholar
Fontana M, Berk JL, Gillmore JD, et al Vutrisiran in Patients with Transthyretin Amyloidosis with Cardiomyopathy. N Engl J Med 0: https://doi.org/10.1056/NEJMoa2409134
Gillmore JD, Maurer MS, Falk RH et al (2016) Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis. Circulation 133:2404–2412. https://doi.org/10.1161/CIRCULATIONAHA.116.021612
Article CAS PubMed Google Scholar
Maurer MS, Schwartz JH, Gundapaneni B et al (2018) Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. N Engl J Med 379:1007–1016. https://doi.org/10.1056/NEJMoa1805689
Article CAS PubMed Google Scholar
Gillmore JD, Judge DP, Cappelli F et al (2024) Efficacy and Safety of Acoramidis in Transthyretin Amyloid Cardiomyopathy. N Engl J Med 390:132–142. https://doi.org/10.1056/NEJMoa2305434
Article CAS PubMed Google Scholar
Maurer MS, Kale P, Fontana M et al (2023) Patisiran Treatment in Patients with Transthyretin Cardiac Amyloidosis. N Engl J Med 389:1553–1565. https://doi.org/10.1056/NEJMoa2300757
Article CAS PubMed PubMed Central Google Scholar
Maurer MS, Elliott P, Comenzo R et al (2017) Addressing Common Questions Encountered in the Diagnosis and Management of Cardiac Amyloidosis. Circulation 135:1357–1377. https://doi.org/10.1161/CIRCULATIONAHA.116.024438
Article PubMed PubMed Central Google Scholar
Kittleson MM, Maurer MS, Ambardekar AV et al (2020) Cardiac Amyloidosis: Evolving Diagnosis and Management: A Scientific Statement From the American Heart Association. Circulation 142:e7–e22. https://doi.org/10.1161/CIR.0000000000000792
Vrana JA, Gamez JD, Madden BJ et al (2009) Classification of amyloidosis by laser microdissection and mass spectrometry–based proteomic analysis in clinical biopsy specimens. Blood 114:4957–4959. https://doi.org/10.1182/blood-2009-07-230722
Article CAS PubMed Google Scholar
Castano A, Haq M, Narotsky DL et al (2016) Multicenter Study of Planar Technetium 99m Pyrophosphate Cardiac Imaging: Predicting Survival for Patients With ATTR Cardiac Amyloidosis. JAMA Cardiol 1:880–889. https://doi.org/10.1001/jamacardio.2016.2839
Bokhari S, Castaño A, Pozniakoff T et al (2013) 99mTc-Pyrophosphate Scintigraphy for Differentiating Light-Chain Cardiac Amyloidosis From the Transthyretin-Related Familial and Senile Cardiac Amyloidoses. Circ Cardiovasc Imaging 6:195–201. https://doi.org/10.1161/CIRCIMAGING.112.000132
Article PubMed PubMed Central Google Scholar
Schafer EB, Tushak Z, Trankle CR et al (2021) False-Positive 99mTechnetium-Pyrophosphate Scintigraphy in Two Patients With Hypertrophic Cardiomyopathy. Circ Heart Fail 14:e007558. https://doi.org/10.1161/CIRCHEARTFAILURE.120.007558
Chang ICY, Bois JP, Bois MC et al (2018) Hydroxychloroquine-Mediated Cardiotoxicity With a False-Positive 99mTechnetium–Labeled Pyrophosphate Scan for Transthyretin-Related Cardiac Amyloidosis. Circ Cardiovasc Imaging 11:e007059. https://doi.org/10.1161/CIRCIMAGING.117.007059
Miller EJ, Campisi R, Shah NR et al (2022) Radiopharmaceutical supply disruptions and the use of 99mTc-hydroxymethylene diphosphonate as an alternative to 99mTc-pyrophosphate for the diagnosis of transthyretin cardiac amyloidosis: An ASNC Information Statement. J Nucl Cardiol 29:2748–2760. https://doi.org/10.1007/s12350-022-03059-5
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