Evidence map›Paper›PMID 39537877›Full record

Trial reportEuropean journal of nuclear medicine and molecular imaging2025

Pre-symptomatic scintigraphic and genetic cascade screening in cardiac transthyretin amyloidosis.

Katarzyna Holcman, Paweł Rubiś, Bogdan Ćmiel, Agnieszka Stępień, Katarzyna Graczyk, Krystian Mróz, Wojciech Szot, Ewa Dziewięcka, Mateusz Winiarczyk, Maria Kurek and 3 more

Registry-linked trialAbstract readClinical Trial
PubMed Full text at PMC Publisher
In one paragraph

Trial report in European journal of nuclear medicine and molecular imaging, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05814380 (The Comparisons of Regional Scintigraphic DPD Uptake Between Patients With Hereditary and Wild Type Cardiac Transthyretin Amyloidosis), which is not on this map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT05814380 unknown statusnot on this map

The Comparisons of Regional Scintigraphic DPD Uptake Between Patients With Hereditary and Wild Type Cardiac Transthyretin Amyloidosis

TypeobservationalSponsorKatarzyna HolcmanRan2020 to 2024Enrolled100ConditionsTransthyretin AmyloidosisArms99mTc-DPD scintigraphy, Collection of blood samples and echocardiography
3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Observational
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Katarzyna HolcmanJagiellonian University Medical College, Department of Cardiac and Vascular Diseases, Institute of Cardiology, St. John Paul II Hospital, Pradnicka 80, 31-202, Krakow, Poland. katarzyna.holcman@gmail.com.ORCID 0000-0002-6895-4076
Paweł RubiśJagiellonian University Medical College, Department of Cardiac and Vascular Diseases, Institute of Cardiology, St. John Paul II Hospital, Pradnicka 80, 31-202, Krakow, Poland.
Bogdan ĆmielFaculty of Applied Mathematics, AGH University of Science and Technology, Krakow, Poland.
Agnieszka StępieńJagiellonian University Medical College, Department of Cardiac and Vascular Diseases, Institute of Cardiology, St. John Paul II Hospital, Pradnicka 80, 31-202, Krakow, Poland.
Katarzyna GraczykJagiellonian University Medical College, Department of Cardiac and Vascular Diseases, Institute of Cardiology, St. John Paul II Hospital, Pradnicka 80, 31-202, Krakow, Poland.
Krystian MrózJagiellonian University Medical College, Department of Interventional Cardiology, Institute of Cardiology St, John Paul II Hospital, Krakow, Poland.
Wojciech SzotDepartment of Nuclear Medicine, St. John Paul II Hospital, Krakow, Poland.
Ewa DziewięckaJagiellonian University Medical College, Department of Cardiac and Vascular Diseases, Institute of Cardiology, St. John Paul II Hospital, Pradnicka 80, 31-202, Krakow, Poland.
Mateusz WiniarczykJagiellonian University Medical College, Department of Cardiac and Vascular Diseases, Institute of Cardiology, St. John Paul II Hospital, Pradnicka 80, 31-202, Krakow, Poland.
Maria KurekStudents Scientific Group of Cardiovascular Imaging, Department of Cardiac and Vascular Diseases, Jagiellonian University Medical College, Krakow, Poland.
Mateusz KęskaStudents Scientific Group of Cardiovascular Imaging, Department of Cardiac and Vascular Diseases, Jagiellonian University Medical College, Krakow, Poland.
Piotr PodolecJagiellonian University Medical College, Department of Cardiac and Vascular Diseases, Institute of Cardiology, St. John Paul II Hospital, Pradnicka 80, 31-202, Krakow, Poland.
Magdalena KostkiewiczJagiellonian University Medical College, Department of Cardiac and Vascular Diseases, Institute of Cardiology, St. John Paul II Hospital, Pradnicka 80, 31-202, Krakow, Poland.

Funding

Pfizer Pfizer Research Grant: ID#57165999
6 · The paper itself

Abstract

purposeWhile early diagnosis is crucial, as new treatments can significantly slow the progression of the disease, there is growing evidence on the application of novel imaging techniques for detecting transthyretin amyloidosis (ATTR) in pre-symptomatic stages. This study aimed to evaluate the utility of pre-symptomatic scintigraphic imaging cascade screening for early detection of ATTR.

methodsDuring the period from 2020 to 2024, we conducted a prospective study that enrolled 100 consecutive adults. The study utilized a multimodal cascade screening approach to assess asymptomatic relatives of individuals with ATTR (ClinicalTrials.gov Identifier: NCT05814380). The analysis incorporated clinical data, genetic testing, echocardiography, scintigraphy and single-photon emission computed tomography/computed tomography (SPECT/CT) with [99mTc]Tc-DPD, regardless of the predicted age of disease onset.

resultsOverall, scintigraphy identified cardiac amyloidosis (CA) in 8.2% of relatives, while 20.5% carried a pathogenic transthyretin variant without radiotracer uptake, with Phe53Leu being predominant. Notably, no relatives of wild-type ATTR patients exhibited CA on scintigraphy or carried a transthyretin variant. Additionally, newly-diagnosed relatives with ATTR CA presented elevated high-sensitivity troponin levels and exhibited a higher incidence of pathological electrocardiographic Q waves, greater thickness of the intraventricular septum and left ventricular posterior wall, a notable decline in lateral wall and intraventricular septal E' tissue velocities measured by TDI, and the "5-5-5" sign (p < 0.05).

conclusionThe presented findings demonstrate that implementing a systematic screening protocol, which integrates genetic and scintigraphic testing, facilitates the early detection of ATTR. Crucially, a significant proportion of asymptomatic relatives of patients with hereditary ATTR may suffer from underlying CA. REGISTRATION: ClinicalTrials.gov Identifier: NCT05814380.

Indexed as

Amyloid Neuropathies, FamilialGenetic TestingAdultAgedFemaleHumansMaleMiddle AgedPrealbuminProspective StudiesRadionuclide ImagingSingle Photon Emission Computed Tomography Computed TomographyPrealbuminAmyloid cardiomyopathyATTRDPDSPECTTransthyretinTransthyretin amyloidosis

Identifiers

PMID39537877
PMCPMC11928397

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.