Evaluation of the 2021 ESC recommendations for family screening in hereditary transthyretin cardiac amyloidosis.

ATTRv Amyloidosis Cascade screening Repeat evaluation

Journal

European journal of heart failure

ISSN: 1879-0844

Titre abrégé: Eur J Heart Fail

Pays: England

ID NLM: 100887595

Informations de publication

Date de publication:
17 Jun 2024

Historique:

revised: 13 05 2024

received: 29 02 2024

accepted: 02 06 2024

medline: 18 6 2024

pubmed: 18 6 2024

entrez: 18 6 2024

Statut: aheadofprint

Résumé

The 2021 European Society of Cardiology (ESC) screening recommendations for individuals carrying a pathogenic transthyretin amyloidosis variant (ATTRv) are based on expert opinion. We aimed to (i) determine the penetrance of ATTRv cardiomyopathy (ATTRv-CM) at baseline; (ii) examine the value of serial evaluation; and (iii) establish the yield of first-line diagnostic tests (i.e. electrocardiogram, echocardiogram, and laboratory tests) as per 2021 ESC position statement. We included 159 relatives (median age 55.6 [43.2-65.9] years, 52% male) at risk for ATTRv-CM from 10 centres. The primary endpoint, ATTRv-CM diagnosis, was defined as the presence of (i) cardiac tracer uptake in bone scintigraphy; or (ii) transthyretin-positive cardiac biopsy. The secondary endpoint was a composite of heart failure (New York Heart Association class ≥II) and pacemaker-requiring conduction disorders. At baseline, 40/159 (25%) relatives were diagnosed with ATTRv-CM. Of those, 20 (50%) met the secondary endpoint. Indication to screen (≤10 years prior to predicted disease onset and absence of extracardiac amyloidosis) had an excellent negative predictive value (97%). Other pre-screening predictors for ATTRv-CM were infrequently identified variants and male sex. Importantly, 13% of relatives with ATTRv-CM did not show any signs of cardiac involvement on first-line diagnostic tests. The yield of serial evaluation (n = 41 relatives; follow-up 3.1 [2.2-5.2] years) at 3-year interval was 9.4%. Screening according to the 2021 ESC position statement performs well in daily clinical practice. Clinicians should adhere to repeating bone scintigraphy after 3 years, as progressing to ATTRv-CM without signs of ATTRv-CM on first-line diagnostic tests or symptoms is common.

Identifiants

DOI: 10.1002/ejhf.3339 PMID: 38887861

pubmed: 38887861

doi: 10.1002/ejhf.3339

doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

Subventions

Organisme : Netherlands Heart Foundation

ID : CVON 2020B005 Double Dose

Organisme : Netherlands Heart Foundation

ID : CVON 2018-30 Predict 2

Organisme : Italian Ministry of Health

ID : RC-2024-2789983

Organisme : ZonMw

ID : Offroad Grant 2021

Pays : Netherlands

Organisme : European Research Council

ID : #101115536

Pays : International

Informations de copyright

Références

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