Shortened PQ interval in the differential diagnosis of Anderson-Fabry disease: a case report
Year: 2022
Type: article
Study design: Case Report
Abstract: In this article, we present a case of a patient with a late diagnosis of Fabry disease caused by a pathogenic variant in the GLA gene (p.1287_1288dup), who repeatedly attempted interventional treatment of Wolff-Parkinson-White Syndrome due to characteristic electrocardiographic pattern of ventricular preexcitation and paroxysmal arrhythmias. The proposed pathognomonic signs of the disease will ensure timely diagnosis and the appointment of specific treatment.
Source: Russian Journal of Cardiology
Authors: P. D. Zlobina, A. A. Kalemberg, R. P. Myasnikov, M. S. Kharlap, O. V. Kulikova, E. A. Mershina, A. V. Tarasov, K. V. Davtyan
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4302391071