What question did this study set out to answer?

The study aims to identify a genetic cause for severe arrhythmias and left ventricular hypertrophy in a young patient.

January 10, 2026Clinical Genetics0 citations

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

MCMaria Pia CicconeNini Hospital FPFilippo Maria PanfiliBambino Gesù Children's Hospital FBFélix BacigalupoPontificia Universidad Católica de Chile

Key Result

A novel homozygous variant in POPDC2 was identified as the definitive cause of cardiac conduction disease and hypertrophic cardiomyopathy in a young patient.

Key Points

The study aims to identify a genetic cause for severe arrhythmias and left ventricular hypertrophy in a young patient.
Chronicles a diagnostic journey over 15 years of inconclusive genetic testing
Identification of a novel homozygous variant in the POPDC2 gene
A definitive diagnosis of a pathogenic variant in POPDC2 was established
The variant is linked to the patient's cardiac conduction disease and hypertrophic cardiomyopathy

Structured PICO

Population

1 young patient with severe arrhythmias and left ventricular hypertrophy (cardiac conduction disease and hypertrophic cardiomyopathy)

Intervention

Genetic testing identifying a novel homozygous variant in POPDC2

Outcome

Definitive genetic diagnosis

Identification of a novel homozygous variant in POPDC2 provides a definitive diagnosis for a young patient with severe arrhythmias and left ventricular hypertrophy.

Main Result

Absolute Event Rate: 0% vs 0%

Abstract

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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