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ATTRV122I amyloidosis

MedGen UID:
907865
•Concept ID:
C4275067
•
Disease or Syndrome
Synonym: Transthyretin related familial amyloid cardiomyopathy
SNOMED CT: Transthyretin related familial amyloid cardiomyopathy (715655000); Transthyretin amyloid cardiopathy (715655000); ATTRV122I amyloidosis (715655000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019441
Orphanet: ORPHA85451

Definition

Hereditary transthyretin related systemic amyloidosis with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. Prevalence is unknown, patients present during adulthood with restrictive cardiomyopathy. Over 80 pathogenetic mutations in the TTR gene (18q12.1) have been reported so far. Transmitted as an autosomal dominant trait. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • ATTRV122I amyloidosis

Recent clinical studies

Etiology

A new era of amyloidosis: the trends at a major US referral centre.
Staron A, Connors LH, Ruberg FL, Mendelson LM, Sanchorawala V
Amyloid 2019 Dec;26(4):192-196. Epub 2019 Jul 15 doi: 10.1080/13506129.2019.1640672. PMID: 31306033
(18)Fluorine sodium fluoride positron emission tomography, a potential biomarker of transthyretin cardiac amyloidosis.
Morgenstern R, Yeh R, Castano A, Maurer MS, Bokhari S
J Nucl Cardiol 2018 Oct;25(5):1559-1567. Epub 2017 Feb 7 doi: 10.1007/s12350-017-0799-x. PMID: 28176254
Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis.
Brown EE, Lee YZJ, Halushka MK, Steenbergen C, Johnson NM, Almansa J, Tedford RJ, Cingolani O, Russell SD, Sharma K, Judge DP
Amyloid 2017 Jun;24(2):92-95. Epub 2017 May 11 doi: 10.1080/13506129.2017.1324418. PMID: 28494620

Diagnosis

Natural course and determinants of short-term kidney function decline in hereditary transthyretin amyloidosis: a French observational study.
Dang J, Segaux L, Moktefi A, Stehlé T, Kharoubi M, El Karoui K, Rémy P, Grimbert P, Plante-Bordeneuve V, Guendouz S, Galat A, Mallet S, Oghina S, Chadha GDS, Zaroui A, Fanen P, Canoui-Poitrine F, Damy T, Audard V
Amyloid 2023 Mar;30(1):38-48. Epub 2022 Jul 17 doi: 10.1080/13506129.2022.2098011. PMID: 35848215
A new era of amyloidosis: the trends at a major US referral centre.
Staron A, Connors LH, Ruberg FL, Mendelson LM, Sanchorawala V
Amyloid 2019 Dec;26(4):192-196. Epub 2019 Jul 15 doi: 10.1080/13506129.2019.1640672. PMID: 31306033
(18)Fluorine sodium fluoride positron emission tomography, a potential biomarker of transthyretin cardiac amyloidosis.
Morgenstern R, Yeh R, Castano A, Maurer MS, Bokhari S
J Nucl Cardiol 2018 Oct;25(5):1559-1567. Epub 2017 Feb 7 doi: 10.1007/s12350-017-0799-x. PMID: 28176254
Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis.
Brown EE, Lee YZJ, Halushka MK, Steenbergen C, Johnson NM, Almansa J, Tedford RJ, Cingolani O, Russell SD, Sharma K, Judge DP
Amyloid 2017 Jun;24(2):92-95. Epub 2017 May 11 doi: 10.1080/13506129.2017.1324418. PMID: 28494620

Therapy

Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis.
Brown EE, Lee YZJ, Halushka MK, Steenbergen C, Johnson NM, Almansa J, Tedford RJ, Cingolani O, Russell SD, Sharma K, Judge DP
Amyloid 2017 Jun;24(2):92-95. Epub 2017 May 11 doi: 10.1080/13506129.2017.1324418. PMID: 28494620

Prognosis

Natural course and determinants of short-term kidney function decline in hereditary transthyretin amyloidosis: a French observational study.
Dang J, Segaux L, Moktefi A, Stehlé T, Kharoubi M, El Karoui K, Rémy P, Grimbert P, Plante-Bordeneuve V, Guendouz S, Galat A, Mallet S, Oghina S, Chadha GDS, Zaroui A, Fanen P, Canoui-Poitrine F, Damy T, Audard V
Amyloid 2023 Mar;30(1):38-48. Epub 2022 Jul 17 doi: 10.1080/13506129.2022.2098011. PMID: 35848215
Genetic testing improves identification of transthyretin amyloid (ATTR) subtype in cardiac amyloidosis.
Brown EE, Lee YZJ, Halushka MK, Steenbergen C, Johnson NM, Almansa J, Tedford RJ, Cingolani O, Russell SD, Sharma K, Judge DP
Amyloid 2017 Jun;24(2):92-95. Epub 2017 May 11 doi: 10.1080/13506129.2017.1324418. PMID: 28494620

Clinical prediction guides

Natural course and determinants of short-term kidney function decline in hereditary transthyretin amyloidosis: a French observational study.
Dang J, Segaux L, Moktefi A, Stehlé T, Kharoubi M, El Karoui K, Rémy P, Grimbert P, Plante-Bordeneuve V, Guendouz S, Galat A, Mallet S, Oghina S, Chadha GDS, Zaroui A, Fanen P, Canoui-Poitrine F, Damy T, Audard V
Amyloid 2023 Mar;30(1):38-48. Epub 2022 Jul 17 doi: 10.1080/13506129.2022.2098011. PMID: 35848215
A new era of amyloidosis: the trends at a major US referral centre.
Staron A, Connors LH, Ruberg FL, Mendelson LM, Sanchorawala V
Amyloid 2019 Dec;26(4):192-196. Epub 2019 Jul 15 doi: 10.1080/13506129.2019.1640672. PMID: 31306033

Supplemental Content

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