Disease Penetrance in Genotype-Positive But Clinically Unaffected Relatives From Families With Dilated Cardiomyopathy.

doi:10.1016/j.jchf.2025.102588

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Article

Disease Penetrance in Genotype-Positive But Clinically Unaffected Relatives From Families With Dilated Cardiomyopathy.

JACC. Heart failure - 1 Oct 2025

Cannie Douglas E, Bakalakos Athanasios, Syrris Petros, Protonotarios Alexandros, Lorenzini Massimiliano, Guttmann Oliver, O'Mahony Constantinos, Savvatis Konstantinos, Sekhri Neha, Mohiddin Saidi, Lopes Luis R, Elliott Perry M

Abstract excerpt

BACKGROUND: Serial clinical assessment of genotype-positive relatives from families with dilated cardiomyopathy (DCM) is recommended, but there are limited data to guide screening intervals. OBJECTIVES: This study sought to understand the influence of age, sex, and genotype on disease expression. METHODS: Families with a DCM phenotype and a likely pathogenic or pathogenic variant in DCM-related genes were...

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Topics

Humans
Male
Female
Cardiomyopathy, Dilated
Penetrance
Middle Aged

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Adult

Genotype

Retrospective Studies

Phenotype

Sex Factors

Incidence

Pedigree

Heart Failure

Lamin Type A

Source

Open in PubMed

Identifiers

PMID: 40848704
DOI: 10.1016/j.jchf.2025.102588

Genes

LMNA

Provenance

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