Advanced search
Publication Cover
Acta Cardiologica Volume 79, 2024 - Issue 4
Submit an article Journal homepage
42
Views
1
CrossRef citations to date
0
Altmetric
Original Scientific Papers

Hereditary transthyretin cardiac amyloidosis proven by endomyocardial biopsy: a single-centre retrospective study and literature review

Tian-Ping Yua Department of Pathology, West China Hospital, Sichuan University, Chengdu, PR ChinaView further author information
,
Jing Houa Department of Pathology, West China Hospital, Sichuan University, Chengdu, PR ChinaView further author information
,
Ting-Jie Yangb Department of Cardiology, West China Hospital, Sichuan University, Chengdu, PR ChinaView further author information
,
Xue-Qin Chena Department of Pathology, West China Hospital, Sichuan University, Chengdu, PR ChinaView further author information
&
Yu-Cheng Chenb Department of Cardiology, West China Hospital, Sichuan University, Chengdu, PR ChinaCorrespondence[email protected]
View further author information
Pages 436-443 | Received 01 Apr 2023, Accepted 06 Sep 2023, Published online: 28 Sep 2023

References

  • Koike H, Katsuno M. Transthyretin amyloidosis: update on the clinical spectrum, pathogenesis, and disease-modifying therapies. Neurol Ther. 2020;9(2):317–333. doi: 10.1007/s40120-020-00210-7.
  • Yamamoto H, Yokochi T. Transthyretin cardiac amyloidosis: an update on diagnosis and treatment. ESC Heart Fail. 2019;6(6):1128–1139. doi: 10.1002/ehf2.12518.
  • Andrade C. A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain. 1952;75(3):408–427. doi: 10.1093/brain/75.3.408.
  • Liu T, Zhang B, Jin X, et al. Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation. Eye. 2014;28(1):26–33. doi: 10.1038/eye.2013.217.
  • Meng LC, Lyu H, Zhang W, et al. Hereditary transthyretin amyloidosis in eight Chinese families. Chin Med J. 2015;128(21):2902–2905. doi: 10.4103/0366-6999.168048.
  • He S, Tian Z, Guan H, et al. Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy. Orphanet J Rare Dis. 2019;14(1):251. doi: 10.1186/s13023-019-1235-x.
  • Wang S, Peng W, Pang M, et al. Clinical profile and prognosis of hereditary transthyretin amyloid cardiomyopathy: a single-center study in South China. Front Cardiovasc Med. 2022;9:900313. doi: 10.3389/fcvm.2022.900313.
  • Bonderman D, Polzl G, Ablasser K, et al. Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement. Wien Klin Wochenschr. 2020;132(23–24):742–761. doi: 10.1007/s00508-020-01781-z.
  • Hsu HC, Liao MF, Hsu JL, et al. Genetic analysis of hereditary transthyretin Ala97Ser related amyloidosis. J Vis Exp. 2018;136:57743.
  • Papathanasiou M, Carpinteiro A, Kersting D, et al. Rare variant (p.Ser43Asn) of familial transthyretin amyloidosis associated with isolated cardiac phenotype: a case series with literature review. Mol Genet Genomic Med. 2021;9(12):e1581.
  • Rowczenio D, Quarta CC, Fontana M, et al. Analysis of the TTR gene in the investigation of amyloidosis: a 25-year single UK center experience. Hum Mutat. 2019;40(1):90–96. doi: 10.1002/humu.23669.
  • Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424. doi: 10.1038/gim.2015.30.
  • Ruberg FL, Berk JL. Transthyretin (TTR) cardiac amyloidosis. Circulation. 2012;126(10):1286–1300. doi: 10.1161/CIRCULATIONAHA.111.078915.
  • Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8(1):31. doi: 10.1186/1750-1172-8-31.
  • Maurer MS, Hanna M, Grogan M, et al. Genotype and phenotype of transthyretin cardiac amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey). J Am Coll Cardiol. 2016;68(2):161–172. doi: 10.1016/j.jacc.2016.03.596.
  • Svendsen IH, Steensgaard-Hansen F, Nordvag BY. A clinical, echocardiographic and genetic characterization of a Danish kindred with familial amyloid transthyretin methionine 111 linked cardiomyopathy. Eur Heart J. 1998;19(5):782–789.
  • Gagliardi C, Perfetto F, Lorenzini M, et al. Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure. Eur J Heart Fail. 2018;20(10):1417–1425. doi: 10.1002/ejhf.1285.
  • Du K, Li F, Wang H, et al. Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study. Ann Clin Transl Neurol. 2021;8(4):831–841. doi: 10.1002/acn3.51328.
  • Liu YT, Lee YC, Yang CC, et al. Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression. J Neurol Sci. 2008;267(1–2):91–99. doi: 10.1016/j.jns.2007.10.011.
  • Li YF, Ng H, Sun IU, et al. Clinical and genetic analysis of three families with familiar amyloid polyneuropathy. Chin Med Sci J. 2008;23(4):230–233. doi: 10.1016/s1001-9294(09)60044-4.
  • Chen H, Zhou X, Wang J, et al. Exome sequencing and gene prioritization correct misdiagnosis in a Chinese kindred with familial amyloid polyneuropathy. Sci Rep. 2016;6(1):26362. doi: 10.1038/srep26362.
  • Cheng C, Ye Q, Wang Y, et al. Liver transplantation for hereditary transthyretin amyloidosis: a case report. Chin J Hepato Surg. 2017;23:221–250.
  • Liu G, Ni W, Wang H, et al. Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds. J Peripher Nerv Syst. 2017;22(1):19–26. doi: 10.1111/jns.12196.
  • Wong CW, Ng WY, So KL, et al. A rare variant of transthyretin-related amyloidosis associated with exclusive cardiomyopathy in a Hong Kong Chinese patient. J Cardiol Cases. 2018;18(6):185–188. doi: 10.1016/j.jccase.2018.07.011.
  • Miao X, Zhang W, Meng H, et al. A case report of amyloid peripheral neuropathy with central involvement caused by Phe84Ser mutation. Chin J Integr Med Cardio/Cerebrovasc Dis. 2019;17:956–959.
  • Chao HC, Liao YC, Liu YT, et al. Clinical and genetic profiles of hereditary transthyretin amyloidosis in Taiwan. Ann Clin Transl Neurol. 2019;6(5):913–922. doi: 10.1002/acn3.778.
  • Guo R, Chang T, Zhang S, et al. Oculoleptomeningeal amyloidosis associated with transthyretin Leul2Pro mutation in a Chinese family. Chin J Neurol. 2019;52(5):394–398.
  • Liu L, Li X-B, Hu Z-M, et al. Clinical and genetic features of transthyretin-related familial amyloid polyneuropathy in China. Chin Med J. 2020;133(21):2616–2618. doi: 10.1097/CM9.0000000000001094.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

A worldwide pioneer in biotechnology.
Bristol Myers Squibb – symposium on hypertrophic cardiomyopathy.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.