Mathews Journal of Cardiology

2572-6420

Current Issue Volume 9, Issue 2 - 2025

Plakophilin-2 is Likely to be the Result of Whole Sequencing in Uhl Anomaly

Stefan Peters*

Medical Care Unit Cardiology, Elze, Germany

*Corresponding Author: Prof.Dr.med. Stefan Peters, Medical Care Unit Elze, Cardiology, Königsberger Str. 1, 31008 Elze, Germany, Tel: +49 5068 9337022, Email: [email protected]

Received Date: November 14, 2025

Published Date: December 31, 2025

Citation: Peters S. (2025). Plakophilin-2 is Likely to be the Result of Whole Sequencing in Uhl Anomaly. Mathews J Cardiol. 9(2):42.

Copyrights: Peters S. © (2025).

ABSTRACT

The  origin of Uhl anomaly is still unknown. Method: In a patient with Uhl anomaly, recently described, genetic whole sequencing was performed. Results: At genetic whole sequencing a nonsense heterozygous mutation of plakophilin-2 was identified. Conclusions: This paper offers the first and only positive genetic finding. It is likely that Uhl anomaly is the maximum variant of arrhythmogenic right ventricular cardiomyopathy as plakophilin-2 is the most common mutation in arrhythmogenic right ventricular cardiomyopathy.

Keywords: Uhl Anomaly, Arrhythmogenic Right Ventricular Cardiomyopathy, Plakophilin-2.


Creative Commons License

© 2015 Mathews Open Access Journals. All Rights Reserved.

Open Access by Mathews Open Access Journals is licensed under a
Creative Commons Attribution 4.0 International License.
Based On a Work at Mathewsopenaccess.com