Evidence map›Paper›PMID 38898187›Full record

ReviewHeart failure reviews2024

Navigating the penetrance and phenotypic spectrum of inherited cardiomyopathies.

Frans Serpa, Caitlin M Finn, Usman A Tahir

Abstract readReview
PubMed Publisher
In one paragraph

Review in Heart failure reviews, 2024. 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. 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

3 authors.

Frans SerpaDivision of Cardiology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.ORCID 0009-0004-2103-2981
Caitlin M FinnDivision of Cardiology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-2671-731X
Usman A TahirDivision of Cardiology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA. utahir@bidmc.harvard.edu.ORCID 0000-0002-3657-6082

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Inherited cardiomyopathies are genetic diseases that can lead to heart failure and sudden cardiac death. These conditions tend to run in families, following an autosomal dominant pattern where first-degree relatives have a 50% chance of carrying the pathogenic variant. Despite significant advancements and increased accessibility of genetic testing, accurately predicting the phenotypic expression of these conditions remains challenging due to the inherent variability in their clinical manifestations and the incomplete penetrance observed. This poses challenges in providing patient care and effectively communicating the potential risk of future disease to patients and their families. To address these challenges, this review aims to synthesize the available evidence on penetrance, expressivity, and factors influencing disease expression to improve communication and risk assessment for patients with inherited cardiomyopathies and their family members.

Indexed as

CardiomyopathiesGenetic TestingPenetrancePhenotypeDeath, Sudden, CardiacGenetic Predisposition to DiseaseHumansMutationRisk AssessmentHeart failureInherited cardiomyopathiesPenetranceVariable expressivity

Identifiers

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.