A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis

A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis

Cardiocutaneous syndrome (CCS) is often caused by genetic variants in desmoplakin (<i>DSP</i>) in the presence of thick calluses on the hands and soles of the feet (palmoplantar keratoderma) in combination with arrhythmogenic cardiomyopathy. In this case report, we describe a 58-year-old...

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Bibliographic Details
Main Authors: Tolga Çimen, Argelia Medeiros-Domingo, Antonios Kolios, Deniz Akdiş, Shehab Anwer, Felix C. Tanner, Corinna Brunckhorst, Firat Duru, Ardan M. Saguner
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Journal of Clinical Medicine
Subjects:
desmoplakin
arrhythmogenic cardiomyopathy
cardiocutaneous syndrome
repeat genetic testing
Online Access:https://www.mdpi.com/2077-0383/12/3/913

Internet

https://www.mdpi.com/2077-0383/12/3/913

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