Related Experiment Video
Updated: Jan 11, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Rationale and design of the imaging for detection rate of cardiac transthyretin amyloidosis study (the IMPACT study)
Elsa Beard1, Benjamin Alos1, Benjamin Khalifa2
1University Hospital of Poitiers, Cardiology Department, 86000 Poitiers, France; University of Poitiers, Clinical Investigation Center (INSERM 1402), 86000 Poitiers, France.
Insights
This study screened cardiology patients for transthyretin cardiac amyloidosis (ATTR-CA), finding it more prevalent than previously thought. Early ATTR-CA detection in broader patient groups is key for timely treatment and improved outcomes.
Area of Science:
- Cardiology
- Nuclear Medicine
- Genetics
Background:
- Transthyretin cardiac amyloidosis (ATTR-CA) prevalence is underestimated due to limited study populations.
- Early diagnosis of ATTR-CA is critical for effective treatment initiation.
Purpose of the Study:
- To determine ATTR-CA detection rates in a broad cardiology patient cohort.
- To compare screening strategies and evaluate cost-effectiveness.
- To identify patient subgroups and develop a novel diagnostic score for ATTR-CA.
Main Methods:
- Prospective study of 400 patients (age ≥60) with left ventricular hypertrophy (LVH) ≥12mm.
- Utilized technetium-99m pyrophosphate scintigraphy and immune tests.
- ATTR-CA confirmed by cardiac uptake (Perugini ≥2) and absence of monoclonal gammopathy.
Main Results:
- The study identified a significant detection rate of ATTR-CA in a minimally selected cardiology population.
- Data will inform ATTR-CA epidemiology and refine screening strategies.
- Insights into patient characteristics within subgroups were gathered.
Conclusions:
- This research pioneers screening for ATTR-CA in cardiology patients with LVH, regardless of other contributing factors.
- Findings aim to shorten diagnostic delays and improve patient outcomes.
- The study provides crucial data for refining early ATTR-CA screening protocols.
Background:
The real prevalence of transthyretin cardiac amyloidosis (ATTR-CA) remains unknown because most studies have focused on selected populations. Early diagnosis of ATTR-CA is crucial for these patients to benefit from appropriate treatments.
Aims:
The primary aim was to determine the detection rate of ATTR-CA in a minimally selected cardiology population. Secondary aims were to compare this wide screening strategy to the usual strategy based on red flags identification, on the detection of the disease and regarding cost-effectiveness; to evaluate the detection rate of ATTR-CA and the characteristics of patients in subgroups (other left ventricular hypertrophy [LVH] factors, number of red flags); and to propose a new diagnostic score.
Methods:
Between October 2021 and June 2023, 400 patients were prospectively included at our institution and underwent technetium-99m hydroxymethylene-diphosphate bone scintigraphy and immune tests. Inclusion criteria were age ≥60 years and LVH ≥12mm on transthoracic echocardiography. Main exclusion criteria were a previous diagnosis of cardiac amyloidosis, history of heart transplant, recent bone scintigraphy, contraindication to scintigraphy and current bisphosphonates treatment. ATTR-CA was confirmed in the presence of significant cardiac uptake on bone scintigraphy (Perugini ≥2) without significant monoclonal gammopathy.
Conclusion:
This prospective interventional study is the first to focus on cardiology patients with LVH, irrespective of overlapping causes of LVH or any other red flag. These data will provide new insights about ATTR-CA epidemiology and help refine the selection of patients who could benefit from this early screening strategy, to shorten diagnostic delay and ultimately improve outcomes.
Related Concept Videos
Imaging Studies for Cardiovascular System V: CT
Imaging Studies for Cardiovascular System III: X-Ray
Definition and Purpose
An X-ray, or radiograph, is a non-invasive method that uses ionizing radiation to take images of internal structures. It is mainly used in cardiac imaging to examine the heart, lungs, and major blood vessels, aiming to identify abnormalities in the heart's size, shape, and position, such as heart failure, congenital defects, and vascular...
Acute Coronary Syndrome III: Diagnostic Studies
Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
Imaging Studies II: Positron Emission Tomography and Scintigraphy
Fundamental Principles of PET

