: 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.
A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy / Ciccone, Maria Pia; Panfili, Filippo Maria; Bacigalupo, Francesca; Brusco, Francesca; Florean, Lara; Lo Re, Federica; Bottillo, Irene. - In: CLINICAL GENETICS. - ISSN 1399-0004. - (2025). [10.1111/cge.70131]
A Novel POPDC2 Pathogenic Variant in a Young Patient With Cardiac Conduction Disease and Hypertrophic Cardiomyopathy
Ciccone, Maria PiaPrimo
;Panfili, Filippo Maria
;Bacigalupo, Francesca;Brusco, Francesca;Re, Federica;Bottillo, IreneUltimo
2025
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
