Publications by authors named "Vasiliki Vlagkouli"
Article Synopsis
- Homozygous truncating mutations in the desmoplakin gene (DSP) can lead to Carvajal syndrome, which is linked to heart issues and skin symptoms.
- A case study details a 13-year-old girl with severe heart problems caused by a new DSP mutation, but she did not show typical skin symptoms; her brother died from similar heart issues at 18.
- The findings suggest the extreme C-terminal region of the desmoplakin protein plays a crucial role in its function, highlighting its importance in heart health.
Aims: The 12-lead electrocardiogram (ECG) is routinely performed in children with hypertrophic cardiomyopathy (HCM). An ECG risk score has been suggested as a useful tool for risk stratification, but this has not been independently validated. This aim of this study was to describe the ECG phenotype of childhood HCM in a large, international, multi-centre cohort and investigate its role in risk prediction for arrhythmic events.
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