Publications by authors named "Paul L Eugenio"
Article Synopsis
- Pathogenic gain-of-function variants in the CACNA1C gene are responsible for type-8 long QT syndrome (LQT8), and this study aims to describe associated electrocardiographic features and understand the genetic mechanisms involved.
- Researchers identified rare variants and assessed their pathogenicity, discovering nine notable variants affecting 23 patients from 19 families, with many clustering in a specific region of the Cav1.2 protein related to SH3 domain binding.
- Key findings include a common late-peaking T wave morphology on EKG and evidence of QT prolongation after exercise, with a concerning history of sudden death linked to variants in the II-III loop region.
Heart failure is common and is associated with significant morbidity and mortality. Identifying potentially modifiable risk factors for the development of ventricular dysfunction is important in both the prevention and the treatment of this condition. Arrhythmia disorders are increasingly recognized as contributory to the development of ventricular failure.
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