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ATTR-CMATTR-CMATTR-CM HomeAbout ATTR-CMMechanism of DiseaseWild-Type ATTR-CMHereditary ATTR-CMSuspect ATTR-CMDetect ATTR-CMResourcesMaterialsVideosTreatment Option
Understanding ATTR-CM Early diagnosis of ATTR-CM is critical1,2

ATTR-CM is an underdiagnosed, progressive, and infiltrative disease that can often be overlooked as a cause of heart failure.1,3 Prognosis worsens rapidly with continued amyloid deposition, subsequent advancing organ dysfunction, and significant reduction in quality of life.1,2

Once diagnosed, untreated patients with ATTR-CM have a median survival of ~2 to 3.5 years.2

 Impact of ATTR amyloidosis on the heart4 Normal, healthy heart

ATTR-CM heart with thickened walls caused by increased amyloid fibril deposition

Illustrative representation.

 ATTR-CM is caused by TTR protein tetramer destabilisation—not the production of TTR itself5

TTR is a transport protein for a thyroid hormone (thyroxine [T4]) and is a retinol-binding protein.5 The mechanism of the disease (MOD) underscores the important function of TTR protein and the consequence of destabilisation for your patients.

 Review MOD Loading Main types of cardiac amyloidosis

98% of currently diagnosed cardiac amyloidosis cases result from fibrils composed of ATTR or monoclonal immunoglobulin light chains (immunoglobulin light chain amyloidosis, or AL).6

ATTR-CM is one of the most common types of cardiac amyloidosis2,7,8

  • wtATTR-CM is idiopathic and is not considered to be a hereditary disease9,10
  • hATTR-CM occurs due to a mutation in the transthyretin (TTR) gene9
It is important to clinically differentiate between ATTR-CM and AL, as they have different clinical courses, and AL requires immediate treatment by a haematologist/oncologist.4,11 ​​​​​​​ A multidisciplinary approachCollaboration between members of a multidisciplinary health care team can increase early and accurate diagnosis of ATTR-CM.6

Patients with ATTR-CM can present with additional manifestations such as atrial fibrillation, bilateral carpal tunnel syndrome, or peripheral neuropathy.2,3,10,12,13

A well-coordinated health care team with expertise in different specialties and diagnostic modalities can offer patients comprehensive care when diagnosing ATTR-CM.6,11

 Learn more  Loading Dr. Detective Series: Encountering ATTR-CM

Meet Dr. Detective, a cardiologist who specialises in diagnosing tough cases. Watch as he learns more about ATTR-CM.

Encountering ATTR-CM

Raising suspicion of ATTR-CM 

Detecting ATTR-CM

 Mechanism of Disease > LoadingReferences:Witteles RM, Bokhari S, Damy T, et al. Screening for transthyretin amyloid cardiomyopathy in everyday practice. JACC Heart Fail. 2019;7(8):709-716. doi:10.1016/j.jchf.2019.04.010
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.116.024438Maurer 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.Rapezzi C, Merlini G, Quarta CC, et al. Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. Circulation. 2009;120(13):1203-1212. doi:10.1161/CIRCULATIONAHA.108.843334Liz MA, Coelho T, Bellotti V, Fernandez-Arias MI, Mallaina P, Obici L. A narrative review of the role of transthyretin in health and disease. Neurol Ther. 2020;9(2):395-402. doi:10.1007/s40120-020-00217-0Garcia-Pavia P, Rapezzi C, Adler Y, et al. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2021;42(16):1554-1568. doi:10.1093/eurheartj/ehab072Narotsky DL, Castaño A, Weinsaft JW, Bokhari S, Maurer MS. Wild-type transthyretin cardiac amyloidosis: novel insights from advanced imaging. Can J Cardiol. 2016;32(9):1166.e1-1166.e10. doi:10.1016/j.cjca.2016.05.008Nativi-Nicolau J, Maurer MS. Amyloidosis cardiomyopathy: update in the diagnosis and treatment of the most common types. Curr Opin Cardiol. 2018;33(5):571-579. doi:10.1097/HCO.0000000000000547Benson 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.Connors LH, Sam F, Skinner M, et al. Heart failure resulting from age-related cardiac amyloid disease associated with wild-type transthyretin: a prospective, observational cohort study. Circulation. 2016;133(3):282-290. doi:10.1161/ CIRCULATIONAHA.115.018852Nativi-Nicolau J, Sarswat N, Fajardo J, et al. Best practices in specialized amyloidosis centers in the United States: a survey of cardiologists, nurses, patients, and patient advocates. Clin Med Insights: Cardiol. 2021;15:1-10. doi:10.1177/11795468211015230Pinney JH, Whelan CJ, Petrie A, et al. Senile systemic amyloidosis: clinical features at presentation and outcome. J Am Heart Assoc. 2013;2(2):e000098. doi:10.1161/JAHA.113.000098Nakagawa M, Sekijima Y, Yazaki M, et al. Carpal tunnel syndrome: a common initial symptom of systemic wild-type ATTR (ATTRwt) amyloidosis. Amyloid. 2016;23(1):58-63. doi:10.3109/13506129.2015.1135792Dorbala S, Ando Y, Bokhari S, et al. ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI expert consensus recommendations for multimodality imaging in cardiac amyloidosis: part 1 of 2—evidence base and standardized methods of imaging. J Nucl Cardiol. 2019;26(6):2065-2123. doi:10.1007/s12350-019-01760-6. Addendum: J Nucl Cardiol. Published online July 1, 2021. doi:10.1007/s12350-020-02455-zATTR-CM ​​​​​​​Discover more about ATTR-CM What imaging modalities help raise suspicion of ATTR-CM?

Gain a deeper understanding of echocardiography and cardiac magnetic resonance (CMR).

 See the tools Loading Detect ATTR-CM noninvasively with nuclear scintigraphy14

Review the evidence and consensus recommendations for diagnosis.

 Learn moreLoading
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