2,978
Views
0
CrossRef citations to date
0
Altmetric
Research Article

First description of Portuguese patients with cardiac amyloidosis and p.Val142Ile: more evidence of an “African variant” in Caucasians

, , , , , & show all
Article: 2197183 | Received 05 Jan 2023, Accepted 25 Mar 2023, Published online: 07 Apr 2023

References

  • Kittleson MM, Maurer MS, Ambardekar AV, et al. Cardiac amyloidosis: evolving diagnosis and management: a scientific statement From the American heart association. Circulation. 2020;142(1):e7–e22.
  • Pathak GA, Wendt FR, De Lillo A, et al. Epigenomic profiles of African-American transthyretin Val122Ile carriers reveals putatively dysregulated amyloid mechanisms. Circ Genom Precis Med. 2021;14(1):e003011.
  • Singh A, Geller HI, Falk RH. Val122Ile mt-ATTR has a worse survival Than wt-ATTR cardiac amyloidosis. J Am Coll Cardiol. 2017;69(6):757–758.
  • Gillmore JD, Damy T, Fontana M, et al. A new staging system for cardiac transthyretin amyloidosis. Eur Heart J. 2018;39(30):2799–2806.
  • Adams D, Koike H, Slama M, et al. Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat Rev Neurol. 2019;15(7):387–404.
  • Garcia-Pavia P, Rapezzi C, Adler Y, et al. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC working group on myocardial and pericardial diseases. Eur Heart J. 2021;42(16):1554–1568.
  • Jacobson DR, Alexander AA, Tagoe C, et al. The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in africa. Mol Genet Genomic Med. 2016;4(5):548–556.
  • Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434–443.
  • Mazzarotto F, Argirò A, Zampieri M, et al. Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in Central Italy. Eur J Hum Genet. 2022;
  • Gillmore JD, Booth DR, Pepys MB, et al. Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man. Heart. 1999;82(3):e2.
  • Hamidi K, Nakamura M, Yamashita T, et al. Cardiac amyloidosis associated with the transthyretin Ile122 mutation in a caucasian family. Amyloid. 2001;8(4):263–269.
  • Ammirati E, Marziliano N, Vittori C, et al. The first caucasian patient with p.Val122Ile mutated-transthyretin cardiac amyloidosis treated with isolated heart transplantation. Amyloid. 2012;19(2):113–117.
  • Swiecicki PL, Zhen DB, Mauermann ML, et al. Hereditary ATTR amyloidosis: a single-institution experience with 266 patients. Amyloid. 2015;22(2):123–131.
  • Cappelli F, Frusconi S, Bergesio F, et al. The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-Centre italian experience. J Cardiovasc Med (Hagerstown). 2016;17(2):122–125.
  • Gentile L, Di Bella G, Minutoli F, et al. Description of a large cohort of caucasian patients with V122I ATTRv amyloidosis: neurological and cardiological features. J Peripher Nerv Syst. 2020;25(3):273–278.
  • Marrero Negrin N, Medina Gil JM, Garcia Cruz ML, et al. Transthyretin cardiac amyloidosis due to homozygous Val122Ile mutation in a caucasian man. Rev Esp Cardiol. 2019;72(12):1086–1088.
  • Rasmussen TBL, Dybro BT, Clemmensen AM, et al. Transthyretin gene variants and associated phenotypes in danish patients with amyloid cardiomyopathy. Cardiogenetics. 2022;12(1):1–11.
  • Trachtenberg BH, Shah SK, Nussbaum RL, et al. Presence of the V122I variant of hereditary Transthyretin-Mediated amyloidosis Among Self-Reported white individuals in a sponsored genetic testing program. Circ Genom Precis Med. 2021;14(5):e003466.
  • Stancanelli C, Gentile L, Di Bella G, et al. Phenotypic variability of TTR Val122Ile mutation: a caucasian patient with axonal neuropathy and normal heart. Neurol Sci. 2017;38(3):525–526.
  • Maurer MS, Bokhari S, Damy T, et al. Expert consensus recommendations for the suspicion and diagnosis of transthyretin cardiac amyloidosis. Circ Heart Fail. 2019;12(9):e006075.
  • Olalde I, Mallick S, Patterson N, et al. The genomic history of the iberian peninsula over the past 8000 years. Science. 2019;363(6432):1230–1234.
  • Bycroft C, Fernandez-Rozadilla C, Ruiz-Ponte C, et al. Patterns of genetic differentiation and the footprints of historical migrations in the iberian peninsula. Nat Commun. 2019;10(1):551.