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

BACKGROUND

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.

CASE SUMMARY: 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.

DISCUSSION: 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.

TAKE-HOME MESSAGES: 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.