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

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.