Evidence map›Paper›PMID 41195766›Full record

ArticleJournal of the American Heart Association2025

Hypertrophic Cardiomyopathy: The Impact of Age at Diagnosis of the Proband on Genetic Yield, Clinical Presentation, Outcomes, and Yield of Family Screening.

Elvira Silajdzija, Christoffer Rasmus Vissing, Emma Basse Christensen, Helen Lamiokor Mills, Thilde Olivia Kock, Lars Juel Andersen, Martin Snoer, Jens Jakob Thune, Emil Daniel Bartels, Anna Axelsson Raja and 2 more

Abstract read
In one paragraph

Article in Journal of the American Heart Association, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
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

12 authors.

Elvira SilajdzijaDepartment of Cardiology Copenhagen University Hospital-Rigshospitalet Copenhagen Denmark.ORCID 0009-0001-8873-429X
Christoffer Rasmus VissingDepartment of Cardiology Copenhagen University Hospital-Rigshospitalet Copenhagen Denmark.ORCID 0000-0002-0834-206X
Emma Basse ChristensenDepartment of Cardiology Copenhagen University Hospital-Rigshospitalet Copenhagen Denmark.
Helen Lamiokor MillsDepartment of Cardiology Copenhagen University Hospital-Rigshospitalet Copenhagen Denmark.ORCID 0000-0002-3011-0740
Thilde Olivia KockDepartment of Cardiology Copenhagen University Hospital-Rigshospitalet Copenhagen Denmark.ORCID 0000-0001-8240-0363
Lars Juel AndersenDepartment of Cardiology Zealand University Hospital Roskilde Denmark.
Martin SnoerDepartment of Cardiology Zealand University Hospital Roskilde Denmark.
Jens Jakob ThuneDepartment of Cardiology Copenhagen University Hospital-Bispebjerg-Frederiksberg Hospital Copenhagen Denmark.ORCID 0000-0002-3621-3775
Emil Daniel BartelsDepartment of Clinical Biochemistry Copenhagen University Hospital-Rigshospitalet Copenhagen Denmark.
Anna Axelsson RajaDepartment of Cardiology Copenhagen University Hospital-Rigshospitalet Copenhagen Denmark.ORCID 0000-0001-8665-3309
Alex Hørby ChristensenDepartment of Cardiology Copenhagen University Hospital-Rigshospitalet Copenhagen Denmark.ORCID 0000-0002-6855-1496
Henning BundgaardDepartment of Cardiology Copenhagen University Hospital-Rigshospitalet Copenhagen Denmark.ORCID 0000-0002-0563-7049

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHypertrophic cardiomyopathy is a complex disease with variable clinical presentation and familial impact. Age at diagnosis may influence phenotypic expression, but it is unclear if age also affects clinical outcomes, genetic findings, and yield of family screening.

methodsThis was a retrospective cohort study of families screened for hypertrophic cardiomyopathy in eastern Denmark (2006-2023). Probands were analyzed by age at diagnosis both continuously and in quartiles: 18 to 45, 46 to 56, 57 to 65, and >65 years.

resultsA total of 612 probands (62% men; median age, 56 years; median follow-up, 9 years) and 919 relatives (45% men; median age, 42 years) were studied. A higher proband age at diagnosis was associated with more left ventricular outflow tract obstruction (odds ratio [OR], 1.19/10 years), hypertension (OR, 1.57/10 years) and atrial fibrillation (OR, 1.24/10 years), but less left ventricular hypertrophy (wall thickness ≥30 mm; OR, 0.52/10 years), and ventricular arrhythmias (OR 0.81/10 years). Older age at diagnosis was associated with higher all-cause death, but similar cardiovascular death. Sarcomere variants were less common in the oldest versus youngest quartile of probands (13% versus 42%,

conclusionsThe proband's age at hypertrophic cardiomyopathy diagnosis was associated with clinical and genetic findings, but the cardiovascular death and the yield of family screening were similar across all ages at diagnosis, supporting the presently recommended follow-up and family screening irrespective of the proband's age at diagnosis.

Indexed as

Cardiomyopathy, HypertrophicGenetic TestingAdolescentAdultAgedAge FactorsDenmarkFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedPedigreePhenotypeRetrospective StudiesRisk Factorsagingclinical outcomesfamily screeninggenetic testinghypertrophic cardiomyopathyphenotypic expression

Identifiers

PMID41195766
PMCPMC12887210

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Registered trials

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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.