Transthyretin Amyloidosis and HF With Preserved EF

Study Questions:

What is the prevalence of wild-type transthyretin (TTR) amyloidosis (ATTRwt) in elderly patients with heart failure with preserved ejection fraction (HFpEF)?

Methods:

This was a prospective cross-sectional study at a single center in Madrid, Spain. Patients had New York Heart Association (NYHA) class II-IV symptoms and ejection fraction ≥50%, with HFpEF defined by the European Society of Cardiology. All patients with severe 99mTc-DPD uptake on scintigraphy underwent genetic analysis for mutations in the wild-type TTR gene. The complete coding regions of the TTR gene were amplified by polymerase chain reaction assay. Treating physicians would decide if patients with severe 99mTc-DPD uptake needed abdominal fat, salivary gland, or endomyocardial biopsies.

Results:

Of the 120 patients included in the study, 59% were women and the mean age was 82 ± 8 years. There were no differences in age, gender, hypertension, diabetes, coronary artery disease, or atrial fibrillation between ATTRwt patients and patients with other HFpEF forms. Patients with ATTRwt had higher median N-terminal pro-brain natriuretic peptide (6467 vs. 3173 pg/L; p = 0.019), median troponin I (0.135 vs. 0.025 mg/L; p < 0.001), mean left ventricular maximal wall thickness (17 ± 3.4 vs. 14 ± 2.5 mm; p = 0.001), rate of pericardial effusion (44 vs. 19%; p = 0.047), and rate of pacemakers (44 vs. 12%; p = 0.004), suggesting that there is a similar clinical presentation between ATTRwt and other HFpEF forms.

Conclusions:

ATTRwt is an underdiagnosed disease that can account for a significant number of HFpEF cases. A 99mTc-DPD scintigraphy-based protocol is safe to detect ATTRwt among elderly patients admitted due to HFpEF.

Perspective:

As we continue to strive to find treatments for HFpEF, ATTRwt should be considered when evaluating a patient with HFpEF. 99mTc-DPD scintigraphy can be used as an imaging modality in patients with ATTRwt. Future studies are needed that focus on treatment methods for TTR amyloidosis.

Clinical Topics: Heart Failure and Cardiomyopathies, Noninvasive Imaging, Pericardial Disease, Acute Heart Failure, Chronic Heart Failure, Heart Failure and Cardiac Biomarkers

Keywords: Amyloid Neuropathies, Familial, Biopsy, Cardiomyopathies, Diagnostic Imaging, Heart Failure, Heart Failure, Diastolic, Mutation, Natriuretic Peptide, Brain, Pericardial Effusion, Prealbumin, Polymerase Chain Reaction, Stroke Volume, Troponin I


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