Key result
Novel homozygous POPDC2 variant linked to cardiac conduction disease and HCM in a young patient.
Identification of a novel homozygous variant in POPDC2 provides a definitive diagnosis for a young patient with severe arrhythmias and left ventricular hypertrophy.
Supports POPDC2 screening in select phenotypes; hypothesis-generating and should not yet change practice.
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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Ciccone et al. (2025) studied this question. A novel homozygous variant in POPDC2 was identified as the definitive cause of cardiac conduction disease and hypertrophic cardiomyopathy in a young patient.
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