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NKX2-5 genetic mutation in a young woman with an atrial septal defect presenting with complete heart block: ICD or bradycardia pacemaker?
  1. Ahmed El-Medany1,2,
  2. Shahid Aziz2 and
  3. Edward Duncan1
  1. 1Cardiology, Bristol Heart Institute, Bristol, UK
  2. 2Cardiology, Southmead Hospital, Bristol, UK
  1. Correspondence to Dr Ahmed El-Medany; amedany{at}


A woman in her 40s was admitted following syncope. The 12-lead ECG showed atrial fibrillation with slow ventricular response and suspected complete atrioventricular (AV) block. Cardiac monitoring demonstrated non-sustained monomorphic ventricular tachycardia (VT). Her medical history included surgical repair of an atrial septal defect (ASD) aged 4 years. The patient’s mother died suddenly in her early 50s and also had an ASD. Given the patient’s syncope, background of familial sudden cardiac death (SCD), suspicion of complete AV block and non-sustained VT, she received an implantable cardiac defibrillator (ICD). She underwent genetic testing, revealing a heterozygous NKX2-5 genetic mutation. The signature phenotype in NKX2-5 mutations is ASD with AV conduction disturbance and an increased risk of SCD secondary to ventricular arrhythmias or severe bradycardia. SCD has been described in NKX2-5 mutation carriers despite functioning permanent pacemakers (PPMs). Therefore, we propose implantation of a preventive ICD, as opposed to a PPM.

  • Pacing and electrophysiology
  • Arrhythmias
  • Genetic screening / counselling

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  • Contributors AE-M drafted and revised the manuscript and contributed to the conception and design of the case report. SA contributed to the conception and revised the manuscript. ED revised the manuscript. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.