Delgado D, Dabbous F, Shivappa N, Mazhar F, Wittbrodt E, Shridharmurthy D et al (2025) Epidemiology of transthyretin (ATTR) amyloidosis: a systematic literature review. Orphanet J Rare Dis 20(1):29. https://doi.org/10.1186/s13023-025-03547-0
Article PubMed PubMed Central Google Scholar
Kittleson MM, Ambardekar AV, Cheng RK, Griffin JM, Maurer MS, Nativi-Nicolau J et al (2025) Transthyretin cardiac amyloidosis evaluation and management: 2025 ACC concise clinical guidance. J Am Coll Cardiol. 87(5):549–565 https://doi.org/10.1016/j.jacc.2025.09.004
Article PubMed PubMed Central Google Scholar
Ruberg FL, Teruya S, Helmke S, Smiley DA, Fine D, Kurian D et al (2025) Transthyretin cardiac amyloidosis in older Black and Hispanic individuals with heart failure. JAMA Cardiol 10(10):1035–1043. https://doi.org/10.1001/jamacardio.2025.2948
Article PubMed PubMed Central Google Scholar
Ruberg FL, Maurer MS (2024) Cardiac amyloidosis due to transthyretin protein: a review. JAMA 331(9):778–791. https://doi.org/10.1001/jama.2024.0442
Article CAS PubMed PubMed Central Google Scholar
Antonopoulos AS, Tsampras T, Lazaros G, Tsioufis K, Vlachopoulos C (2025) A phenomap of TTR amyloidosis to aid diagnostic screening. ESC Heart Fail 12(2):1113–1118. https://doi.org/10.1002/ehf2.15143
Dispenzieri A, Coelho T, Conceição I, Waddington-Cruz M, Wixner J, Kristen AV et al (2022) Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update. Orphanet J Rare Dis 17(1):236. https://doi.org/10.1186/s13023-022-02359-w
Article PubMed PubMed Central Google Scholar
Adams D, Ando Y, Beirao JM, Coelho T, Gertz MA, Gillmore JD et al (2021) Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol 268(6):2109–2122. https://doi.org/10.1007/s00415-019-09688-0
Sekijima Y, Ueda M, Koike H, Misawa S, Ishii T, Ando Y (2018) Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm. Orphanet J Rare Dis 13(1):6. https://doi.org/10.1186/s13023-017-0726-x
Article PubMed PubMed Central Google Scholar
Maurer MS, Hanna M, Grogan M, Dispenzieri A, Witteles R, Drachman B et al (2016) Genotype and phenotype of transthyretin cardiac amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey). J Am Coll Cardiol 68(2):161–172. https://doi.org/10.1016/j.jacc.2016.03.596
Article CAS PubMed PubMed Central Google Scholar
Bhatt K, Delgado DH, Khella S, Bumma N, Karam C, Keller A et al (2024) Hereditary transthyretin amyloidosis in patients referred to a genetic testing program. J Am Heart Assoc 13(23):e033770. https://doi.org/10.1161/jaha.123.033770
Article CAS PubMed PubMed Central Google Scholar
Madhani A, Sabogal N, Massillon D, Paul LD, Rodriguez C, Fine 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(15):e028973. https://doi.org/10.1161/jaha.122.028973
Article CAS PubMed PubMed Central Google Scholar
Selvaraj S, Claggett B, Shah SH, Mentz RJ, Khouri MG, Manichaikul AW et al (2024) Cardiovascular burden of the V142I transthyretin variant. JAMA 331(21):1824–1833. https://doi.org/10.1001/jama.2024.4467
Article CAS PubMed PubMed Central Google Scholar
Conceição I, Damy T, Romero M, Galán L, Attarian S, Luigetti M et al (2019) Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations. Amyloid 26(1):3–9. https://doi.org/10.1080/13506129.2018.1556156
Article CAS PubMed Google Scholar
Kittleson MM, Ruberg FL, Ambardekar AV, Brannagan TH, Cheng RK, Clarke JO et al (2023)ACC expert consensus decision pathway on comprehensive multidisciplinary care for the patient with cardiac amyloidosis: a report of the american college of cardiology solution set oversight committee. J Am Coll Cardiol 81(11):1076–1126. https://doi.org/10.1016/j.jacc.2022.11.022
Akinboboye O, Shah K, Warner AL, Damy T, Taylor HA, Gollob J et al (2020) DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis. Amyloid 27(4):223–230. https://doi.org/10.1080/13506129.2020.1764928
Article CAS PubMed Google Scholar
Damrauer SM, Chaudhary K, Cho JH, Liang LW, Argulian E, Chan L et al (2019) Association of the V122I hereditary transthyretin amyloidosis genetic variant with heart failure among individuals of African or Hispanic/Latino ancestry. JAMA 322(22):2191–2202. https://doi.org/10.1001/jama.2019.17935
Article CAS PubMed PubMed Central Google Scholar
Jacoby E, Quan D, Todd E, Shortt J, Smith H, Rafaels N et al (2025) Prevalence of pathogenic transthyretin gene variants in the Rocky Mountain region. Muscle Nerve 71(2):252–256. https://doi.org/10.1002/mus.28301
Desai U, Ilieva HS, Eyer JE, Peltier AC (2025) Peripheral nervous system involvement of hereditary transthyretin amyloidosis in the United States: a multi-center perspective. Muscle Nerve 72(2):286–293. https://doi.org/10.1002/mus.28414
Ioannou A, Nitsche C, Porcari A, Patel RK, Razvi Y, Rauf MU et al (2024) Multiorgan dysfunction and associated prognosis in transthyretin cardiac amyloidosis. J Am Heart Assoc 13(4):e033094. https://doi.org/10.1161/jaha.123.033094
Article CAS PubMed PubMed Central Google Scholar
Grodin JL, Gupta A, Rison I Jr., Kozlitina J, Saelices-Gomez L, Girotra S et al (2025) Risk for heart failure and atrial fibrillation across the lifespan for carriers of the amyloidogenic p.V142I TTR variant. Circ Genom Precis Med 18(4):e004911. https://doi.org/10.1161/circgen.124.004911
Article CAS PubMed PubMed Central Google Scholar
Coniglio AC, Segar MW, Loungani RS, Savla JJ, Grodin JL, Fox ER et al (2022) Transthyretin V142I genetic variant and cardiac remodeling, injury, and heart failure risk in black adults. JACC Heart Fail 10(2):129–138. https://doi.org/10.1016/j.jchf.2021.09.006
Article CAS PubMed Google Scholar
Parcha V, Malla G, Irvin MR, Armstrong ND, Judd SE, Lange LA et al (2022) Association of transthyretin Val122Ile variant with incident heart failure among Black individuals. JAMA 327(14):1368–1378. https://doi.org/10.1001/jama.2022.2896
Article CAS PubMed PubMed Central Google Scholar
Rao VN, Claggett BL, Khouri MG, Shah AM, Solomon SD, Selvaraj S (2025) Late-life echocardiographic effects of the amyloidogenic p.V142I transthyretin variant. Circ Heart Fail 18(7):e013212. https://doi.org/10.1161/circheartfailure.125.013212
Article CAS PubMed PubMed Central Google Scholar
Selvaraj S, Claggett B, Minamisawa M, Windham BG, Chen LY, Inciardi RM et al (2021) Atrial fibrillation and ischemic stroke with the amyloidogenic V122I transthyretin variant among Black Americans. J Am Coll Cardiol 78(1):89–91. https://doi.org/10.1016/j.jacc.2021.04.042
Article CAS PubMed PubMed Central Google Scholar
Sideris K, Nelson TJ, Brinker L, Gao A, Tcheandjieu C, Kyriakopoulos CP et al (2026) Systemic manifestations and mortality risk in transthyretin V142I variant carriers: a million veteran program analysis. JACC Cardio Oncology 8(1):31–44. https://doi.org/10.1016/j.jaccao.2025.12.006
Ioannou A, Patel RK, Razvi Y, Porcari A, Sinagra G, Venneri L et al (2022) Impact of earlier diagnosis in cardiac ATTR amyloidosis over the course of 20 years. Circulation 146(22):1657–1670. https://doi.org/10.1161/circulationaha.122.060852
Comments (0)