Disease ImpactIf you have patients with HFpEF, they may have transthyretin cardiac amyloidosis1**Also known as transthyretin amyloid cardiomyopathy (ATTR-CM).ATTR cardiac amyloidosis may be underdiagnosed in patients with HFpEF due to the 2 conditions’ similar clinical characteristics.1,2~1 in 10 patients over the age of 60 with HFpEF were found to have ATTR cardiac amyloidosis3,4†
Without treatment, patients with ATTR cardiac amyloidosis have a median survival of ~2 to 5 years. Proactive identification and early intervention are critical to slow disease progression.2,5
Patients with ATTR cardiac amyloidosis may go over 3 years from experiencing their first symptoms to receiving the appropriate diagnosis6Patients with ATTR cardiac amyloidosis may go over 3 years from experiencing their first symptoms to receiving the appropriate diagnosis6According to the 2023 ACC Expert Consensus Decision Pathway, ATTR cardiac amyloidosis may be mistaken for1:According to the 2023 ACC Expert Consensus Decision Pathway, ATTR cardiac amyloidosis may be mistaken for1:
- Hypertensive heart disease
- Hypertrophic cardiomyopathy
- Concentric hypertrophy from aortic stenosis
- HFpEF
Misdiagnosis occurs in greater than 1/3 of ATTR cardiac amyloidosis patients2You can help extend patient survival with timely diagnosis and treatment of ATTR cardiac amyloidosis.7
Delayed diagnosis and treatment of ATTR cardiac amyloidosis can have a significant impact on patients2,6,7 TitleDon't stop at HFpEF. Rule out ATTR cardiac amyloidosis when evaluating your patients with heart failure1Mechanism of DiseaseATTR cardiac amyloidosis is characterized by the accumulation of amyloid fibrils of misfolded transthyretin protein in the myocardium, leading to heart failure2TTR plays a vital role in everyday biologic functions8,9 TTR transports8: -
Thyroxine (metabolism-regulating hormone)8,9
- Thyroid hormones play a vital role in regulating the body’s metabolism, heart and digestive functions, muscle control, brain development, and maintenance of bones
-
Retinol (vitamin A)8
- Vitamin A is important for vision, reproduction, growth, and development
Destabilization of TTR causes ATTR cardiac amyloidosis2
- Unstable tetramers break apart into monomers2
- Monomers misfold and form amyloid fibrils2
- Fibrils accumulate in heart tissue2
There are 2 subtypes of ATTR cardiac amyloidosis2-
Wild-type ATTR cardiac amyloidosis (wtATTR cardiac amyloidosis)
- Presents most commonly in older white men, >60 years of age11-13
- Prevalence increases with age14
-
Hereditary ATTR cardiac amyloidosis (hATTR cardiac amyloidosis)‡
- Affects both men and women5,15
- May occur as early as 50 to 60 years of age16
- Onset varies according to mutation16
- The most common variant in the United States, Val122lle, is carried by ~3%-4% of African Americans15§
BadgeNext: Learn when to rule out ATTR cardiac amyloidosis ContinueLoadingStudy designs: The study by González-López et al was a prospective, cross-sectional, single-center study at a tertiary university hospital in Madrid, Spain, to determine the prevalence of wtATTR-CM among elderly patients admitted to the hospital due to HFpEF. The study population included 120 HFpEF patients (59% women, mean age: 82±8 years) with LV ejection fraction ≥50% and LV hypertrophy ≥12 mm. All eligible patients were offered a DPD scintigraphy scan to confirm ATTR cardiac amyloidosis. The study by Hahn et al was a prospective analysis in 108 patients (61% women, age range: 57-74 years) seen at the Johns Hopkins Center for HFpEF who underwent endomyocardial biopsy to evaluate myocardial tissue histopathology.3,4In the United States, Val122lle and Thr60AIa are the most common mutations that typically manifest as cardiomyopathy symptoms.5Although not all individuals with the V122I mutation develop symptoms.15ACC=American College of Cardiology; ATTR=transthyretin amyloidosis; CV=cardiovascular; HFpEF=heart failure with preserved ejection fraction; TTR=transthyretin.
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