A Rare Cause of Syncope: Naxos Disease Caused by Novel Homozygous Deletion in the JUP Gene

Circ Cardiovasc Imaging. 2021 Oct;14(10):e013059. doi: 10.1161/CIRCIMAGING.121.013059. Epub 2021 Sep 30.

Authors

Mehmet Rasih Sonsöz¹, Ezgi Gökpinar İli², Alper Gezdirici², Cagdas Topel³, Gökhan Kahveci¹, Helen Bornaun⁴

Affiliations

¹ Department of Cardiology (M.R.S., G.K.), Basaksehir Cam & Sakura City Hospital, Istanbul, Turkey.
² Department of Medical Genetics (E.G.İ., A.G.), Basaksehir Cam & Sakura City Hospital, Istanbul, Turkey.
³ Department of Radiology, Mehmet Akif Ersoy Cardiothoracic and Vascular Surgery Research Hospital, Istanbul, Turkey (C.T.).
⁴ Department of Pediatric Cardiology, Istanbul Kanuni Sultan Suleyman Training and Research Hospital, Turkey (H.B.).

PMID: 34587761
DOI: 10.1161/CIRCIMAGING.121.013059

No abstract available

Keywords: Naxos disease; arrhythmogenic right ventricular dysplasia; echocardiography; gamma catenin; magnetic resonance imaging; mutation.

Publication types

Case Reports

MeSH terms

Arrhythmogenic Right Ventricular Dysplasia / complications*
Arrhythmogenic Right Ventricular Dysplasia / diagnosis
Arrhythmogenic Right Ventricular Dysplasia / genetics
Base Sequence
DNA / genetics*
DNA Mutational Analysis
Echocardiography
Female
Hair Diseases / complications*
Hair Diseases / diagnosis
Hair Diseases / genetics
Heart Ventricles / diagnostic imaging
Heart Ventricles / physiopathology
Homozygote
Humans
Keratoderma, Palmoplantar / complications*
Keratoderma, Palmoplantar / diagnosis
Keratoderma, Palmoplantar / genetics
Magnetic Resonance Imaging, Cine / methods
Mutation*
Pedigree
Rare Diseases*
Sequence Deletion / genetics*
Syncope / etiology*
Syncope / genetics
Young Adult
gamma Catenin / genetics
gamma Catenin / metabolism

Substances

JUP protein, human
gamma Catenin
DNA

Supplementary concepts

Naxos disease