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Hereditary Transthyretin Amyloid Cardiomyopathy

MedGen UID:
1719381
•Concept ID:
C5237217
•
Disease or Syndrome
Synonym: hATTR-CM

Definition

Transthyretin amyloid cardiomyopathy caused by mutation(s) in the TTR gene, encoding transthyretin. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary Transthyretin Amyloid Cardiomyopathy

Professional guidelines

PubMed

Cardiac amyloidosis: updates in diagnosis and management.
Mohty D, Damy T, Cosnay P, Echahidi N, Casset-Senon D, Virot P, Jaccard A
Arch Cardiovasc Dis 2013 Oct;106(10):528-40. Epub 2013 Sep 23 doi: 10.1016/j.acvd.2013.06.051. PMID: 24070600

Recent clinical studies

Etiology

Use of Technetium-99m-Pyrophosphate Single-Photon Emission Computed Tomography/Computed Tomography in Monitoring Therapeutic Changes of Eplontersen in Patients With Hereditary Transthyretin Amyloid Cardiomyopathy.
Yu AL, Chen YC, Tsai CH, Wu YA, Su MY, Chou CH, Shun CT, Hsueh HW, Juang JJ, Lee MJ, Tseng PH, Hsu CH, Hsieh ST, Ko CL, Cheng MF, Chao CC, Lin YH
J Am Heart Assoc 2024 Jan 16;13(2):e030512. Epub 2024 Jan 12 doi: 10.1161/JAHA.123.030512. PMID: 38214277Free PMC Article
Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy.
He S, Tian Z, Guan H, Li J, Fang Q, Zhang S
Orphanet J Rare Dis 2019 Nov 12;14(1):251. doi: 10.1186/s13023-019-1235-x. PMID: 31718691Free PMC Article
Prevalence of TTR variants detected by whole-exome sequencing in hypertrophic cardiomyopathy.
Lopes LR, Futema M, Akhtar MM, Lorenzini M, Pittman A, Syrris P, Elliott PM
Amyloid 2019 Dec;26(4):243-247. Epub 2019 Sep 25 doi: 10.1080/13506129.2019.1665996. PMID: 31554435
Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.
Damy T, Costes B, Hagège AA, Donal E, Eicher JC, Slama M, Guellich A, Rappeneau S, Gueffet JP, Logeart D, Planté-Bordeneuve V, Bouvaist H, Huttin O, Mulak G, Dubois-Randé JL, Goossens M, Canoui-Poitrine F, Buxbaum JN
Eur Heart J 2016 Jun 14;37(23):1826-34. Epub 2015 Nov 3 doi: 10.1093/eurheartj/ehv583. PMID: 26537620
Cardiac amyloidosis: updates in diagnosis and management.
Mohty D, Damy T, Cosnay P, Echahidi N, Casset-Senon D, Virot P, Jaccard A
Arch Cardiovasc Dis 2013 Oct;106(10):528-40. Epub 2013 Sep 23 doi: 10.1016/j.acvd.2013.06.051. PMID: 24070600

Diagnosis

Hereditary transthyretin amyloid cardiomyopathy.
Zheng Y, Sia CH, Wong RCC, Foo RSY, Lin W, Singh D, Lim YC
Singapore Med J 2023 Jan;64(1):74-80. doi: 10.4103/singaporemedj.SMJ-2021-300. PMID: 36722520Free PMC Article
A Case of Early Hereditary Transthyretin Amyloid Cardiomyopathy Recognition With Genetic Screening: A Case Report.
Juarez M, Del Rio-Pertuz G, Parmar K, Bois MC, Shurmur S, Argueta-Sosa E
J Prim Care Community Health 2022 Jan-Dec;13:21501319211062682. doi: 10.1177/21501319211062682. PMID: 34983267Free PMC Article
Hereditary Transthyretin Amyloid Cardiomyopathy.
Youmans QR, Shah SJ, Khan SS
JAMA Cardiol 2022 Feb 1;7(2):236. doi: 10.1001/jamacardio.2021.5006. PMID: 34935856
Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy.
He S, Tian Z, Guan H, Li J, Fang Q, Zhang S
Orphanet J Rare Dis 2019 Nov 12;14(1):251. doi: 10.1186/s13023-019-1235-x. PMID: 31718691Free PMC Article
Cardiac amyloidosis: updates in diagnosis and management.
Mohty D, Damy T, Cosnay P, Echahidi N, Casset-Senon D, Virot P, Jaccard A
Arch Cardiovasc Dis 2013 Oct;106(10):528-40. Epub 2013 Sep 23 doi: 10.1016/j.acvd.2013.06.051. PMID: 24070600

Therapy

Use of Technetium-99m-Pyrophosphate Single-Photon Emission Computed Tomography/Computed Tomography in Monitoring Therapeutic Changes of Eplontersen in Patients With Hereditary Transthyretin Amyloid Cardiomyopathy.
Yu AL, Chen YC, Tsai CH, Wu YA, Su MY, Chou CH, Shun CT, Hsueh HW, Juang JJ, Lee MJ, Tseng PH, Hsu CH, Hsieh ST, Ko CL, Cheng MF, Chao CC, Lin YH
J Am Heart Assoc 2024 Jan 16;13(2):e030512. Epub 2024 Jan 12 doi: 10.1161/JAHA.123.030512. PMID: 38214277Free PMC Article
Tafamidis for the Treatment of Hereditary Transthyretin Amyloid Cardiomyopathy: A Case Report.
Fujita T, Inomata T, Kaida T, Iida Y, Ikeda Y, Nabeta T, Ishii S, Maekawa E, Naruke T, Koitabashi T, Kitamura E, Sekijima Y, Ako J
Cardiology 2017;137(2):74-77. Epub 2017 Feb 3 doi: 10.1159/000455089. PMID: 28152524
Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.
Damy T, Costes B, Hagège AA, Donal E, Eicher JC, Slama M, Guellich A, Rappeneau S, Gueffet JP, Logeart D, Planté-Bordeneuve V, Bouvaist H, Huttin O, Mulak G, Dubois-Randé JL, Goossens M, Canoui-Poitrine F, Buxbaum JN
Eur Heart J 2016 Jun 14;37(23):1826-34. Epub 2015 Nov 3 doi: 10.1093/eurheartj/ehv583. PMID: 26537620

Prognosis

Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy.
He S, Tian Z, Guan H, Li J, Fang Q, Zhang S
Orphanet J Rare Dis 2019 Nov 12;14(1):251. doi: 10.1186/s13023-019-1235-x. PMID: 31718691Free PMC Article
Cardiac amyloidosis: updates in diagnosis and management.
Mohty D, Damy T, Cosnay P, Echahidi N, Casset-Senon D, Virot P, Jaccard A
Arch Cardiovasc Dis 2013 Oct;106(10):528-40. Epub 2013 Sep 23 doi: 10.1016/j.acvd.2013.06.051. PMID: 24070600

Clinical prediction guides

Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy.
He S, Tian Z, Guan H, Li J, Fang Q, Zhang S
Orphanet J Rare Dis 2019 Nov 12;14(1):251. doi: 10.1186/s13023-019-1235-x. PMID: 31718691Free PMC Article
Cardiac amyloidosis: updates in diagnosis and management.
Mohty D, Damy T, Cosnay P, Echahidi N, Casset-Senon D, Virot P, Jaccard A
Arch Cardiovasc Dis 2013 Oct;106(10):528-40. Epub 2013 Sep 23 doi: 10.1016/j.acvd.2013.06.051. PMID: 24070600

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