Homozygous PKP2 Deletion Associated with Left Ventricular Noncompaction and Arrhythmia

Left ventricular noncompaction cardiomyopathy (LVNC) is a genetic cardiomyopathy, characterized by prominent left ventricular trabeculations and deep intertrabecular recesses. Relatively few responsible genes have been identified. Plakophilin-2 (PKP2) is a component of the desmosome complex and is known for its role in cell-to-cell adhesion. Heterozygous variants of the PKP2 gene deletion that encoding the desmosomal protein plakophilin-2, are associated with arrhythmogenic right ventricular cardiomyopathy (ARVC). The homozygous variant of the PKP2 deletion has been described only once in a case associated with LVNC.

Here, we are reporting a total homozygous PKP2 deletion, after molecular genetic analysis of whole-exome sequencing (WES), which was identified in a 4- month boy with severe (LVNC). He presented with intractable congestive heart failure (CHF) and arrhythmia of Wolf – Parkinson - White syndrome (WPW) and ventricular tachycardia (VT). Our results support not only the association of PKP2 with ventricular noncompaction cardiomyopathy, but also WPW and VT.