Work

Autosomal recessive RYR2 genetic mutation presenting as atrioventricular block and polymorphic ventricular tachycardia in a young female

Year: 2024

Type: article

Abstract: A young woman in her thirties, born out of consanguineous marriage, with no family history of sudden cardiac death, initially presented with symptomatic high-grade atrioventricular (AV) block, for which she underwent a dual-chamber left bundle branch area pacemaker implantation. She subsequently developed recurrent episodes of polymorphic ventricular tachycardia (PVT) and was found to have an autosomal recessive mutation for catecholaminergic polymorphic ventricular tachycardia (CPVT).

Source: HeartRhythm Case Reports

DOI: 10.1016/j.hrcr.2024.11.013

Authors: Sanjai Pattu Valappil, Narayanan Namboodiri, Shaima Hafeez, Abhinav B. Anand

Institutions: SRM Institute of Science and Technology, Sree Chitra Thirunal Institute for Medical Sciences and Technology, Lokmanya Tilak Municipal General Hospital and Lokmanya Tilak Municipal Medical College

Language: English

Topic: Cardiac electrophysiology and arrhythmias

Subfield: Cardiology and Cardiovascular Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,100