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ATTR-CMATTR-CMATTR-CM HomeAbout ATTR-CMMechanism of DiseaseWild-Type ATTR-CMHereditary ATTR-CMSuspect ATTR-CMDetect ATTR-CMResourcesEventsMaterialsVideos
Hereditary ATTR-CM hATTR-CM is a type of amyloidosis caused by a mutation in the TTR gene1 

Are you looking for information about wtATTR-CM? Read more

hATTR-CM is inherited in an autosomal dominant pattern; this means that only 1 affected parent is enough to pass on the mutation.2 The most common mutations responsible for a cardiac phenotype are observed in patients of African American (V122I), Irish (T60A), Italian (I68L) and Danish (L111M) descent.3

Not all patients who carry a TTR mutation will present with clinical signs and symptoms of this disease.4

About 75% of patients with hATTR-CM exhibited cardiomyopathy features.3

Carpal tunnel syndrome is also common and can often be the initial symptom in more than 30% of patients with hATTR-CM, followed by the symptoms of cardiomyopathy as the disease progresses.5

Penetrance data have shown great heterogeneity depending on the phenotype, genotype and environmental factors.6

An overview of the hATTR-CM patient populationWho is at risk?
  • Both men and women7
  • Age of symptom onset depends on the mutation, but may occur as early as 30 to 40 years (V30M, L111M), or 50 to 60 years (V122I, V30M, T60A), and 55 years (I68L)8-10
Common characteristics of hATTR-CM
  • Heart failure11
  • Peripheral dysfunction (e.g. peripheral sensorimotor dysfunction and peripheral neuropathy)11
  • Autonomic dysfunction (e.g. autonomic neuropathy, gastrointestinal symptoms, unexplained weight loss, orthostatic hypotension and erectile dysfunction)11,12
  • History of bilateral carpal tunnel syndrome11,13
Early detection is critical​​​​​​​

Advanced hATTR-CM in untreated patients is associated with rapid progression, serious cardiac complications and increased mortality, regardless of the phenotype.7,11,14


  • Once diagnosed, untreated patients have a median survival of ~2 to 3 years11

Early recognition of cardiac involvement is critical in hereditary amyloidosis15

  • Increased serum levels of NT-proBNP can reveal cardiac involvement​​​​​​​
Understanding genetic risk for hATTR-CM​​​​​​​

An index patient's diagnosis of hATTR-CM should prompt genetic counselling and testing of relatives.10

A targeted approach may enable the diagnosis of the disease at the first detectable sign or symptom10:

  • Early identification of ATTR-CM is important to enable timely treatment
  • Genetic testing is used to detect the presence of a mutation in the TTR gene, thereby confirming a diagnosis of hATTR-CM
  • Genetic counselling and testing can be especially beneficial for at-risk relatives of an index patient

The following factors should be considered when scheduling genetic testing in at-risk relatives10:

  • The specific mutation
  • The penetrance of the mutation
  • The age of onset and severity of disease in the index patient
Suspect ATTR-CM > LoadingATTR-CM, transthyretin amyloid cardiomyopathy; hATTR-CM, hereditary ATTR-CM; NT-proBNP, N-terminal pro-B-type natriuretic peptide; TTR, transthyretin; wtATTR-CM, wild-type ATTR-CM.
ReferencesBenson MD, Buxbaum JN, Eisenberg DS, et al. Amyloid nomenclature 2018: recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid. 2018;25(4):215-219. doi:10.1080/13506129.2018.1549825 Sekijima Y. Hereditary transthyretin amyloidosis. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle, WA; Copyright © 1993-2022. Accessed January 24, 2023.
Rapezzi C, Quarta CC, Obici L, et al. Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardia phenotype: an Italian perspective. Eur Heart J. 2013;34(7):520-528. doi:10.1093/eurheartj/ehs123 Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8:31. doi:10.1186/1750-1172-8-31Kapoor M, Rossor AM, Laura M, Reilly MM. Clinical presentation, diagnosis, and treatment of TTR amyloidosis. J Neuromuscul Dis. 2019;6(2):189-199. doi:10.3233/JND-180371 Pueyo CL, Arregui MÁA, Gutierrez AG, Juana EB, Guillén SM. Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data. Eur J Hum Genet. 2019;27(5):783-791. doi:10.1038/s41431-019-0337-1Maurer 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.2016.03.596Rapezzi C, Quarta CC, Riva L, et al. Transthyretin-related amyloidosis and the heart: a clinical overview. Nat Rev Cardiol. 2010;7(7):398-408. doi:10.1038/nrcardio.2010.67 Adams D, Koike H, Slama M, Coelho T. Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat Rev Neurol. 2019;15(7):387-404. doi:10.1038/s41582-019-0210-4 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(1):3-9. doi:10.1080/13506129.2018.1556156 Maurer MS, Elliott P, Comenzo R, Semigran M, Rapezzi C. Addressing common questions encountered in the diagnosis and management of cardiac amyloidosis. Circulation. 2017;135(14):1357-1377. doi:10.1161/CIRCULATIONAHA.116.024438 Coelho T, Maurer MS, Suhr OB. THAOS – the Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis. Curr Med Res Opin. 2013;29(1):63-76. doi:10.1185/03007995.2012.754348Witteles RM, Bokhari S, Damy T, et al. Screening for transthyretin amyloid cardiomyopathy in everyday practice. JACC Heart Fail. 2019;7(8):709-716.Conceição I, Coelho T, Rapezzi C, et al. Assessment of patients with hereditary transthyretin amyloidosis – understanding the impact of management and disease progression. Amyloid. 2019;26(3):103-111. doi:10.1080/13506129.2019.1627312Gillmore JD, Damy T, Fontana M, et al. A new staging system for cardiac transthyretin amyloidosis. Eur Heart J. 2018;39(30):2799-2806. doi:10.1093/eurheartj/ehx589 
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