Work

NKX2-5 mutation in a family with ventricular tachycardia and aborted sudden cardiac death

Year: 2026

Type: article

Abstract: 1)Progressive AVCD is a characteristic manifestation of patients with CHD and/or cardiomyopathies associated with NKX 2.5 mutations. However, there are reports of SCD in patients with this mutation with a pacemaker implanted for high degree or complete AV block. 2)This report describes a family with a novel NKX 2.5 mutation, in whom the mother was subsequently demonstrated to have polymorphic VT/VF following a resuscitated cardiac arrest years distant from an uncomplicated surgical repair of a secundum ASD. 3)A pacemaker may be inadequate for some patients with an NKX 2.5 mutation in association with CHD and/or a cardiomyopathy. 4)Since the arrhythmia manifestations often occur years after repair of CHD, even patients with simple, uncomplicated ASDs should undergo routine ECGs to monitor for progressive AVCD, and when present, should trigger genetic testing for NKX 2.5 mutations. 5)For patients with a known NKX 2.5 mutation long-term follow-up should include monitoring for ventricular arrhythmias as well as high degree or complete heart block.

Source: HeartRhythm Case Reports

DOI: 10.1016/j.hrcr.2026.06.025

Authors: Abinash Pandey, Burt Bromberg, Dipika Menon

Institutions: Cardinal Glennon Children’s Medical Center, Saint Louis University

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