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Article

Unmasking subclinical cardiomyopathy: The role of cardiopulmonary exercise testing when screening genotype-positive phenotype negative relatives.

International journal of cardiology - 1 Sept 2026

Abela Mark, Scicluna James, Debattista Jessica, Scerri Jeanesse, Marmara Vincent, Scerri Christian, Felice Tiziana

Abstract excerpt

INTRODUCTION: Cascade testing in gene-positive cardiomyopathy families facilitates the identification of relatives at risk of cardiomyopathy. Conventional clinical screening is often unremarkable, particularly in younger individuals. This study evaluated the potential role of cardiopulmonary exercise testing (CPET) in detecting subclinical disease among gene-positive phenotype-negative (G + P-) relatives....

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Identifiers

PMID: 42134666
DOI: 10.1016/j.ijcard.2026.134555

Genes

ACTC1
DSG2
TTN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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