EXPLORING THE 12 LEAD ECG CHARACTERISTIC OF PAEDIATRIC AND YOUNG ADULT CARRIERS OF DESMOPLAKIN GENE VARIANTS (2024)

Background and Aim

The DSP gene (locus. 6p24.3) encodes desmoplakin, a quintessential desmosomal protein for cellular adhesion, particularly within cardiac tissues. DSP gene variants can cause dilated cardiomyopathy, non–dilated left ventricular cardiomyopathy (NDLVC) and arrhythmogenic righ ventricular cardiomyopathy (ARVC), cardiac conditions known to trigger malignant ventricular arrhythmias and cause sudden cardiac death in young individuals. Nevertheless, the electrocardiographic (ECG) patterns in children carrying DSP variants are underexplored.

Methods

A retrospective analysis was conducted involving paediatric DSP gene variant carriers (</=18 years), followed at Great Ormond Street Hospital from 2006 to 2023. Their 12–lead ECGs were characterised and compared with those of an age and gender–matched healthy control group (χ2, p–value<0.05).

Results

25 DSP carriers (64% females; 12.6±4 years) were identified [including 4 (16%) with an overt cardiomyopathy phenotype] and compared to 25 healthy matched controls (12.7±4.3years). Compared to the control group, DSP carriers exhibited a higher prevalence of low QRS voltages (72% vs 44%, p= 0.041), QRS notching (72% vs 26%, p= 0,014) and flattened T waves (72% vs 52%, p= 0,026). All 4 patients with an overt cardiomyopathy phenotype had widespread low QRS voltages and QRS fractionation, as well as flattened/inverted T waves, particularly in the inferior and lateral leads.

Conclusion