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Article

A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy.

Clinical genetics - 1 May 2026

Ciccone Maria Pia, Panfili Filippo Maria, Bacigalupo Francesca, Brusco Francesca, Florean Lara, Re Federica, Bottillo Irene

Abstract excerpt

We chronicle the diagnostic journey of a young patient suffering from severe arrhythmias and left ventricular hypertrophy, for which, after about 15 years of inconclusive genetic testing, a definitive diagnosis was made possible by finding an undescribed homozygous variant in POPDC2, a gene recently associated with CCDs and HCM.

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Share to Cardiac Conduction System Disease
Share to Cardiomyopathy, Hypertrophic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41456958
DOI: 10.1111/cge.70131

Genes

POPDC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy.PMID 41456958Read ↗

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