Page 125 - Read Online

Scirpa et al. Vessel Plus 2022;6:52 https://dx.doi.org/10.20517/2574-1209.2021.74 Page 11 of 11

43. Musumeci MB, Cappelli F, Russo D, et al. Low sensitivity of bone scintigraphy in detecting Phe64Leu mutation-related transthyretin
cardiac amyloidosis. JACC Cardiovasc Imaging 2020;13:1314-21. DOI PubMed
44. 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:e006075. DOI PubMed PMC
45. Benson MD, Dasgupta NR, Rao R. Diagnosis and screening of patients with hereditary transthyretin amyloidosis (hATTR): current
strategies and guidelines. Ther Clin Risk Manag 2020;16:749-58. DOI PubMed PMC
46. Gopal DM, Ruberg FL, Siddiqi OK. Impact of genetic testing in transthyretin (ATTR) cardiac amyloidosis. Curr Heart Fail Rep
2019;16:180-8. DOI PubMed
47. Adams D, Ando Y, Beirão JM, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with
polyneuropathy. J Neurol 2021;268:2109-22. DOI PubMed PMC
48. Schmidt HH, Barroso F, González-Duarte A, et al. Management of asymptomatic gene carriers of transthyretin familial amyloid
polyneuropathy. Muscle Nerve 2016;54:353-60. DOI PubMed PMC
49. Obici L, Kuks JB, Buades J, et al; European Network for TTR-FAP (ATTReuNET). Recommendations for presymptomatic genetic
testing and management of individuals at risk for hereditary transthyretin amyloidosis. Curr Opin Neurol 2016;29 Suppl 1:S27-35.
DOI PubMed PMC
50. Guimarães L, Sequeiros J, Skirton H, Paneque M. What counts as effective genetic counselling for presymptomatic testing in late-
onset disorders? J Genet Couns 2013;22:437-47. DOI PubMed
51. Olsson M, Jonasson J, Cederquist K, Suhr OB. Frequency of the transthyretin Val30Met mutation in the northern Swedish population.
Amyloid 2014;21:18-20. DOI PubMed
52. Magliano L, Obici L, Sforzini C, et al; ATTRv Collaborators. Psychosocial burden and professional and social support in patients with
hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy. Orphanet J Rare Dis 2021;16:163. DOI PubMed PMC
53. Graceffa A, Russo M, Vita GL, et al. Psychosocial impact of presymptomatic genetic testing for transthyretin amyloidotic
polyneuropathy. Neuromuscul Disord 2009;19:44-8. DOI PubMed
54. Grandis M, Obici L, Luigetti M, et al. Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis
in the era of effective therapy: a multicenter Italian consensus. Orphanet J Rare Dis 2020;15:348. DOI PubMed PMC
55. Conceição I, Damy T, Romero M, et al. Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR
gene mutations. Amyloid 2019;26:3-9. DOI PubMed
56. Longhi S, Guidalotti PL, Quarta CC, et al. Identification of TTR-related subclinical amyloidosis with 99mTc-DPD scintigraphy. JACC
Cardiovasc Imaging 2014;7:531-2. DOI PubMed
57. Haq M, Pawar S, Berk JL, Miller EJ, Ruberg FL. Can 99m Tc-pyrophosphate aid in early detection of cardiac involvement in
asymptomatic variant TTR amyloidosis? JACC Cardiovasc Imaging 2017;10:713-4. DOI PubMed PMC
58. Leonardi L, Adam C, Beaudonnet G, et al. Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression
in hereditary transthyretin amyloidosis. Eur J Neurol 2022;29:1477-87. DOI PubMed
59. Ueda M, Sekijima Y, Koike H, et al. Monitoring of asymptomatic family members at risk of hereditary transthyretin amyloidosis for
early intervention with disease-modifying therapies. J Neurol Sci 2020;414:116813. DOI PubMed