NKX2-5 Mutation and ICD Implantation in a Pregnant AV Block Patient

Arrhythmias and conduction disorders are relatively common during pregnancy and are often amplified by the physiological changes of gestation. Although new-onset complete heart block is uncommon, it has been linked to mutations in the NKX2-5 gene, which is associated with congenital heart disorders and progressive conduction system defects.

We present the case of a pregnant woman with an NKX2-5 gene mutation who developed progressive atrioventricular nodal disease and chronotropic incompetence. She underwent dual-chamber implantable cardioverter-defibrillator placement, with a well-tolerated procedure and an uncomplicated pregnancy and delivery.

This case demonstrates the feasibility of device implantation during pregnancy and highlights the importance of genetic insight and multidisciplinary care in managing complex cardiac conditions.

Limited guidelines exist for the management of conduction mutations such as NKX2-5 during pregnancy. More research, data, and shared clinical experience are needed to better guide clinicians into multidisciplinary, timely and individualized management plans to ensure optimal maternal and fetal outcomes.